{"id":1154,"date":"2025-09-14T16:44:31","date_gmt":"2025-09-14T09:44:31","guid":{"rendered":"https:\/\/cdha.edu.vn\/cdha\/?p=1154"},"modified":"2025-09-15T14:44:19","modified_gmt":"2025-09-15T07:44:19","slug":"pnh-lac-cho-chat-xam","status":"publish","type":"post","link":"https:\/\/cdha.edu.vn\/cdha\/pnh-lac-cho-chat-xam\/","title":{"rendered":"N\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n v\u00e0 c\u1ed9ng h\u01b0\u1edfng t\u1eeb"},"content":{"rendered":"\n

<\/a>T\u00d3M T\u1eaeT NHANH<\/h3>\n\n\n\n
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L\u1ea1c ch\u1ed7 t\u1ebf b\u00e0o th\u1ea7n kinh l\u00e0 s\u1ef1 hi\u1ec7n di\u1ec7n c\u1ee7a c\u00e1c t\u1ebf b\u00e0o th\u1ea7n kinh \u1edf b\u1ea5t k\u1ef3 v\u1ecb tr\u00ed n\u00e0o kh\u00e1c ngo\u00e0i v\u1ecf n\u00e3o, g\u00e2y ra b\u1edfi s\u1ef1 di tr\u00fa b\u1ea5t th\u01b0\u1eddng trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n c\u1ee7a thai nhi.<\/p>\n\n\n\n

N\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t (periventricular nodular heterotopia) (PNH), l\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a s\u1ef1 ph\u00e1t tri\u1ec3n b\u1ea5t th\u01b0\u1eddng l\u1edbp bi\u1ec3u m\u00f4 th\u1ea7n kinh (neuroependyma). PNH bao g\u1ed3m c\u00e1c t\u1eadp h\u1ee3p t\u1ebf b\u00e0o th\u1ea7n kinh v\u00e0 t\u1ebf b\u00e0o th\u1ea7n kinh \u0111\u1ec7m s\u1eafp x\u1ebfp l\u1ed9n x\u1ed9n, n\u1eb1m d\u1ecdc theo th\u00e0nh c\u00e1c n\u00e3o th\u1ea5t b\u00ean. Ch\u00fang c\u00f3 th\u1ec3 \u0111\u01a1n \u0111\u1ed9c ho\u1eb7c \u0111i k\u00e8m v\u1edbi c\u00e1c b\u1ea5t th\u01b0\u1eddng kh\u00e1c c\u1ee7a h\u1ec7 th\u1ea7n kinh trung \u01b0\u01a1ng.<\/p>\n\n\n\n

H\u1ea7u h\u1ebft b\u1ec7nh nh\u00e2n m\u1eafc PNH bi\u1ec3u hi\u1ec7n b\u1eb1ng c\u00e1c c\u01a1n co gi\u1eadt v\u00e0\/ho\u1eb7c ch\u1eadm ph\u00e1t tri\u1ec3n, v\u1edbi m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng v\u00e0 tu\u1ed5i kh\u1edfi ph\u00e1t kh\u00e1c nhau.<\/p>\n\n\n\n

M\u1eb7c d\u00f9 vi\u1ec7c ch\u1ea9n \u0111o\u00e1n ti\u1ec1n s\u1ea3n PNH b\u1eb1ng si\u00eau \u00e2m \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o trong y v\u0103n nh\u01b0ng nh\u00ecn chung t\u00ecnh tr\u1ea1ng n\u00e0y th\u01b0\u1eddng b\u1ecb b\u1ecf s\u00f3t trong c\u00e1c \u0111\u1ee3t si\u00eau \u00e2m s\u00e0ng l\u1ecdc thai nhi.<\/p>\n\n\n\n

C\u00e1c bi\u1ec3u hi\u1ec7n c\u1ee7a PNH bao g\u1ed3m:
– D\u00e3n n\u00e3o th\u1ea5t b\u00ean 1 ho\u1eb7c 2 b\u00ean
– Th\u00e0nh n\u00e3o th\u1ea5t b\u00ean kh\u00f4ng \u0111\u1ec1u
– M\u1ed9t ho\u1eb7c nhi\u1ec1u n\u1ed1t h\u1ed3i \u00e2m l\u1ed3i v\u00e0o l\u00f2ng n\u00e3o th\u1ea5t
– S\u1eebng tr\u00e1n v\u00e0 th\u00e2n c\u00e1c n\u00e3o th\u1ea5t b\u00ean c\u00f3 d\u1ea1ng vu\u00f4ng<\/p>\n\n\n\n

Th\u00e0nh n\u00e3o th\u1ea5t kh\u00f4ng \u0111\u1ec1u v\u00e0 c\u00e1c n\u1ed1t l\u1ed3i v\u00e0o l\u00f2ng n\u00e3o th\u1ea5t l\u00e0 nh\u1eefng d\u1ea5u hi\u1ec7u h\u00ecnh \u1ea3nh kinh \u0111i\u1ec3n g\u1ee3i \u00fd PNH. Do \u0111\u1ed9 ph\u00e2n gi\u1ea3i t\u01b0\u01a1ng ph\u1ea3n k\u00e9m c\u1ee7a si\u00eau \u00e2m thai, c\u00e1c d\u1ea5u hi\u1ec7u n\u00e0y c\u00f3 th\u1ec3 b\u1ecb b\u1ecf s\u00f3t v\u00e0 PNH c\u00f3 kh\u1ea3 n\u0103ng b\u1ecb ch\u1ea9n \u0111o\u00e1n thi\u1ebfu ngay c\u1ea3 khi th\u1ef1c hi\u1ec7n c\u00e1c kh\u1ea3o s\u00e1t chuy\u00ean s\u00e2u. Ch\u00fang t\u00f4i m\u00f4 t\u1ea3 m\u1ed9t d\u1ea5u hi\u1ec7u m\u1edbi: s\u1eebng tr\u00e1n v\u00e0 th\u00e2n c\u1ee7a n\u00e3o th\u1ea5t b\u00ean c\u00f3 d\u1ea1ng vu\u00f4ng v\u00e0 b\u1edd kh\u00f4ng \u0111\u1ec1u, d\u1ec5 ph\u00e1t hi\u1ec7n h\u01a1n tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n v\u00e0 r\u1ea5t g\u1ee3i \u00fd PNH. D\u1ea5u hi\u1ec7u n\u00e0y n\u00ean \u0111\u01b0\u1ee3c t\u00ecm ki\u1ebfm khi si\u00eau \u00e2m ti\u1ec1n s\u1ea3n trong c\u00e1c t\u00ecnh hu\u1ed1ng \u0111\u00e3 bi\u1ebft c\u00f3 li\u00ean quan \u0111\u1ebfn PNH (c\u00f3 gi\u00e3n n\u00e3o th\u1ea5t, b\u1ea5t s\u1ea3n th\u1ec3 chai v\u00e0, nh\u01b0 quan s\u00e1t trong lo\u1ea1t ca c\u1ee7a ch\u00fang t\u00f4i, gi\u00e3n h\u1ed1 sau).<\/p>\n<\/blockquote>\n\n\n\n

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https:\/\/drive.google.com\/file\/d\/1gQtIofOZgJz1o14JEaScGip40SkQhGKr\/view?usp=sharing<\/a>
DOI: <\/strong>10.1002\/uog.12340<\/p>\n<\/blockquote>\n\n\n\n

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TO\u00c0N V\u0102N <\/h2>\n\n\n\n
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N\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n v\u00e0 c\u1ed9ng h\u01b0\u1edfng t\u1eeb<\/h2>\n\n\n\n

Si\u00eau \u00e2m S\u1ea3n Ph\u1ee5 Khoa <\/em>2013; 42<\/strong>: 149 \u2013 155
\u0110\u01b0\u1ee3c xu\u1ea5t b\u1ea3n tr\u00ean th\u01b0 vi\u1ec7n tr\u1ef1c tuy\u1ebfn Wiley (wileyonlinelibrary.com). DOI: <\/strong>10.1002\/uog.12340<\/p>\n\n\n\n

E. BLONDIAUX*, C. SILEO*, C. NAHAMA-ALLOUCHE*, M. L. MOUTARD\u2020, A. GELOT\u2021, J. M. JOUANNIC\u00a7, H. DUCOU LE POINTE* v\u00e0 C. GAREL*<\/p>\n\n\n\n

*Khoa ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh, B\u1ec7nh vi\u1ec7n Trousseau, H\u1ec7 th\u1ed1ng B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc \u0110\u00f4ng Paris (APHP), \u0110\u1ea1i h\u1ecdc Pierre v\u00e0 Marie Curie, Paris VI, Ph\u00e1p; <\/em>\u2020Khoa Th\u1ea7n kinh Nhi, B\u1ec7nh vi\u1ec7n Trousseau, H\u1ec7 th\u1ed1ng B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc \u0110\u00f4ng Paris (APHP), \u0110\u1ea1i h\u1ecdc Pierre v\u00e0 Marie Curie, Paris VI, Ph\u00e1p; <\/em>\u2021Khoa B\u1ec7nh l\u00fd Th\u1ea7n kinh, Khoa Gi\u1ea3i ph\u1eabu v\u00e0 T\u1ebf b\u00e0o h\u1ecdc B\u1ec7nh l\u00fd, B\u1ec7nh vi\u1ec7n Trousseau, H\u1ec7 th\u1ed1ng B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc \u0110\u00f4ng Paris (APHP), \u0110\u1ea1i h\u1ecdc Pierre v\u00e0 Marie Curie, Paris VI, Ph\u00e1p; <\/em>\u00a7Trung t\u00e2m Chu sinh, Trung t\u00e2m Ch\u1ea9n \u0111o\u00e1n ti\u1ec1n s\u1ea3n \u0111a chuy\u00ean khoa \u0110\u00f4ng Paris, B\u1ec7nh vi\u1ec7n Trousseau, H\u1ec7 th\u1ed1ng B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc \u0110\u00f4ng Paris (APHP), \u0110\u1ea1i h\u1ecdc Pierre v\u00e0 Marie Curie, Paris VI, Ph\u00e1p<\/em><\/em><\/p>\n\n\n\n

T\u1eea KH\u00d3A:  <\/strong>b\u1ea5t th\u01b0\u1eddng di tr\u00fa th\u1ea7n kinh; d\u1ecb d\u1ea1ng n\u00e3o; ch\u1ea9n \u0111o\u00e1n ti\u1ec1n s\u1ea3n<\/p>\n\n\n\n

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T\u00d3M T\u1eaeT<\/h3>\n\n\n\n

M\u1ee5c ti\u00eau <\/em><\/strong>m\u00f4 t\u1ea3 c\u00e1c d\u1ea5u hi\u1ec7u tr\u00ean si\u00eau \u00e2m v\u00e0 c\u1ed9ng h\u01b0\u1edfng t\u1eeb (MRI) g\u1ee3i \u00fd n\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t (periventricular nodular heterotopia – PNH).<\/em><\/p>\n\n\n\n

Ph\u01b0\u01a1ng ph\u00e1p <\/em><\/strong>\u0110\u00e2y l\u00e0 m\u1ed9t lo\u1ea1t ca b\u1ec7nh h\u1ed3i c\u1ee9u bao g\u1ed3m c\u00e1c thai nhi \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn c\u01a1 s\u1edf c\u1ee7a ch\u00fang t\u00f4i \u0111\u1ec3 ch\u1ee5p c\u1ed9ng h\u01b0\u1edfng t\u1eeb n\u00e3o t\u1eeb n\u0103m 2007 \u0111\u1ebfn n\u0103m 2012, \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1eafc PNH v\u00e0 \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c nh\u1eadn b\u1eb1ng c\u1ed9ng h\u01b0\u1edfng t\u1eeb sau sinh ho\u1eb7c kh\u00e1m nghi\u1ec7m t\u1eed thi. Lo\u1ea1i PNH, t\u00ecnh tr\u1ea1ng gi\u00e3n n\u00e3o th\u1ea5t k\u00e8m theo v\u00e0 c\u00e1c d\u1ecb t\u1eadt b\u1ea9m sinh \u0111i k\u00e8m \u0111\u1ec1u \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o.<\/em><\/p>\n\n\n\n

K\u1ebft qu\u1ea3 <\/em><\/strong>Nghi\u00ean c\u1ee9u bao g\u1ed3m 11 thai nhi (ch\u00edn n\u1eef, hai nam) v\u1edbi tu\u1ed5i thai trung b\u00ecnh l\u00fac ch\u1ea9n \u0111o\u00e1n l\u00e0 31 tu\u1ea7n (dao \u0111\u1ed9ng t\u1eeb 23\u201334 tu\u1ea7n). C\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH c\u00f3 k\u00edch th\u01b0\u1edbc nh\u1ecf v\u00e0 lan t\u1ecfa (n = 7), l\u1edbn v\u00e0 nhi\u1ec1u (n = 1) ho\u1eb7c \u0111\u01a1n \u0111\u1ed9c (n = 3). Kh\u1ea3o s\u00e1t si\u00eau \u00e2m chuy\u00ean s\u00e2u \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u01b0\u1edbc khi ch\u1ee5p c\u1ed9ng h\u01b0\u1edfng t\u1eeb thai nhi \u0111\u00e3 b\u1ecf s\u00f3t ch\u1ea9n \u0111o\u00e1n trong b\u1ed1n tr\u01b0\u1eddng h\u1ee3p (m\u1ed9t tr\u01b0\u1eddng h\u1ee3p lan t\u1ecfa v\u00e0 ba tr\u01b0\u1eddng h\u1ee3p \u0111\u01a1n \u0111\u1ed9c); m\u1ed9t l\u1ea7n si\u00eau \u00e2m b\u1ed5 sung \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n sau khi ch\u1ee5p c\u1ed9ng h\u01b0\u1edfng t\u1eeb \u0111\u00e3 ch\u1ea9n \u0111o\u00e1n \u0111\u01b0\u1ee3c PNH \u1edf hai trong s\u1ed1 b\u1ed1n tr\u01b0\u1eddng h\u1ee3p n\u00e0y. Gi\u00e3n n\u00e3o th\u1ea5t xu\u1ea5t hi\u1ec7n trong s\u00e1u tr\u01b0\u1eddng h\u1ee3p (b\u1ed1n tr\u01b0\u1eddng h\u1ee3p m\u1ed9t b\u00ean v\u00e0 hai tr\u01b0\u1eddng h\u1ee3p hai b\u00ean). PNH bi\u1ec3u hi\u1ec7n trong t\u1ea5t c\u1ea3 c\u00e1c tr\u01b0\u1eddng h\u1ee3p d\u01b0\u1edbi d\u1ea1ng c\u00e1c n\u1ed1t c\u00f3 h\u1ed3i \u00e2m trung gian, l\u1ed3i v\u00e0o trong l\u00f2ng n\u00e3o th\u1ea5t. Trong t\u1ea5t c\u1ea3 c\u00e1c tr\u01b0\u1eddng h\u1ee3p PNH lan t\u1ecfa, s\u1eebng tr\u00e1n v\u00e0 th\u00e2n n\u00e3o th\u1ea5t b\u00ean c\u00f3 d\u1ea1ng vu\u00f4ng tr\u00ean m\u1eb7t c\u1eaft coronal, v\u1edbi b\u1edd kh\u00f4ng \u0111\u1ec1u tr\u00ean m\u1eb7t c\u1eaft axial. C\u00e1c d\u1ecb t\u1eadt b\u1ea9m sinh n\u00e3o k\u00e8m theo \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong b\u1ea3y tr\u01b0\u1eddng h\u1ee3p, bao g\u1ed3m b\u1ea5t s\u1ea3n th\u1ec3 chai (n = 4, v\u1edbi c\u00e1c b\u1ea5t th\u01b0\u1eddng kh\u00e1c k\u00e8m theo trong hai tr\u01b0\u1eddng h\u1ee3p) v\u00e0 nang h\u1ed1 sau (retrocerebellar cyst) (n = 3). B\u1ea5t th\u01b0\u1eddng ngo\u00e0i n\u00e3o c\u0169ng xu\u1ea5t hi\u1ec7n trong hai tr\u01b0\u1eddng h\u1ee3p. C\u1ed9ng h\u01b0\u1edfng t\u1eeb m\u1eb9 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u1edf n\u0103m trong s\u1ed1 s\u00e1u tr\u01b0\u1eddng h\u1ee3p PNH nh\u1ecf v\u00e0 lan t\u1ecfa \u0111\u01a1n thu\u1ea7n \u1edf thai nhi n\u1eef, \u0111\u00e3 cho th\u1ea5y PNH \u1edf hai trong s\u1ed1 c\u00e1c tr\u01b0\u1eddng h\u1ee3p n\u00e0y.<\/em><\/em><\/p>\n\n\n\n

K\u1ebft lu\u1eadn <\/em><\/strong>PNH th\u01b0\u1eddng b\u1ecb ch\u1ea9n \u0111o\u00e1n s\u00f3t tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n, ngay c\u1ea3 trong kh\u1ea3o s\u00e1t chuy\u00ean s\u00e2u. Th\u00e0nh n\u00e3o th\u1ea5t kh\u00f4ng \u0111\u1ec1u tr\u00ean m\u1eb7t c\u1eaft axial v\u00e0 n\u00e3o th\u1ea5t b\u00ean c\u00f3 d\u1ea1ng vu\u00f4ng kh\u00f4ng \u0111\u1ec1u tr\u00ean m\u1eb7t c\u1eaft coronal l\u00e0 nh\u1eefng d\u1ea5u hi\u1ec7u g\u1ee3i \u00fd PNH tr\u00ean si\u00eau \u00e2m thai. Copyright \u00a9<\/em> 2012 ISUOG. Published by John Wiley & Sons Ltd.<\/em><\/em><\/p>\n\n\n\n

GI\u1edaI THI\u1ec6U<\/h3>\n\n\n\n

L\u1ea1c ch\u1ed7 t\u1ebf b\u00e0o th\u1ea7n kinh l\u00e0 s\u1ef1 hi\u1ec7n di\u1ec7n c\u1ee7a c\u00e1c t\u1ebf b\u00e0o th\u1ea7n kinh \u1edf b\u1ea5t k\u1ef3 v\u1ecb tr\u00ed n\u00e0o kh\u00e1c ngo\u00e0i v\u1ecf n\u00e3o, g\u00e2y ra b\u1edfi s\u1ef1 di tr\u00fa b\u1ea5t th\u01b0\u1eddng trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n thai nhi. Theo ph\u00e2n lo\u1ea1i \u0111\u01b0\u1ee3c c\u1eadp nh\u1eadt g\u1ea7n \u0111\u00e2y c\u1ee7a Barkovich v\u00e0 c\u1ed9ng s\u1ef1\u00b9, th\u1ec3 ph\u1ed5 bi\u1ebfn nh\u1ea5t, n\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t (periventricular nodular heterotopia) (PNH), l\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a s\u1ef1 ph\u00e1t tri\u1ec3n b\u1ea5t th\u01b0\u1eddng l\u1edbp bi\u1ec3u m\u00f4 th\u1ea7n kinh (neuro-ependyma). PNH bao g\u1ed3m c\u00e1c t\u1eadp h\u1ee3p t\u1ebf b\u00e0o th\u1ea7n kinh v\u00e0 t\u1ebf b\u00e0o th\u1ea7n kinh \u0111\u1ec7m s\u1eafp x\u1ebfp l\u1ed9n x\u1ed9n, n\u1eb1m d\u1ecdc theo th\u00e0nh c\u00e1c n\u00e3o th\u1ea5t b\u00ean. Ch\u00fang c\u00f3 th\u1ec3 \u0111\u01a1n \u0111\u1ed9c (\u0111\u01b0\u1ee3c ph\u00e2n lo\u1ea1i v\u1ec1 m\u1eb7t di truy\u1ec1n th\u00e0nh c\u00e1c d\u1ea1ng li\u00ean k\u1ebft v\u00e0 kh\u00f4ng li\u00ean k\u1ebft v\u1edbi nhi\u1ec5m s\u1eafc th\u1ec3 X) ho\u1eb7c \u0111i k\u00e8m v\u1edbi c\u00e1c b\u1ea5t th\u01b0\u1eddng kh\u00e1c c\u1ee7a h\u1ec7 th\u1ea7n kinh trung \u01b0\u01a1ng. T\u1ef7 l\u1ec7 m\u1eafc PNH trong d\u00e2n s\u1ed1 chung ch\u01b0a \u0111\u01b0\u1ee3c bi\u1ebft, nh\u01b0ng PNH \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o \u1edf 11\u201320% b\u1ec7nh nh\u00e2n \u0111\u1ed9ng kinh c\u00f3 b\u1ea5t th\u01b0\u1eddng v\u1ecf n\u00e3o2,3<\/sup>. H\u1ea7u h\u1ebft b\u1ec7nh nh\u00e2n m\u1eafc PNH bi\u1ec3u hi\u1ec7n b\u1eb1ng c\u00e1c c\u01a1n co gi\u1eadt v\u00e0\/ho\u1eb7c ch\u1eadm ph\u00e1t tri\u1ec3n, v\u1edbi m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng v\u00e0 tu\u1ed5i kh\u1edfi ph\u00e1t kh\u00e1c nhau4,5<\/sup>. M\u1eb7c d\u00f9 vi\u1ec7c ch\u1ea9n \u0111o\u00e1n ti\u1ec1n s\u1ea3n PNH b\u1eb1ng si\u00eau \u00e2m \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o trong y v\u0103n6,8<\/sup> nh\u01b0ng nh\u00ecn chung t\u00ecnh tr\u1ea1ng n\u00e0y th\u01b0\u1eddng b\u1ecb b\u1ecf s\u00f3t trong c\u00e1c \u0111\u1ee3t si\u00eau \u00e2m s\u00e0ng l\u1ecdc thai nhi. <\/p>\n\n\n\n

M\u1ee5c ti\u00eau c\u1ee7a ch\u00fang t\u00f4i l\u00e0 m\u00f4 t\u1ea3 c\u00e1c d\u1ea5u hi\u1ec7u si\u00eau \u00e2m ti\u1ec1n s\u1ea3n g\u1ee3i \u00fd PNH (v\u00e0 n\u00ean \u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh ch\u1ee5p c\u1ed9ng h\u01b0\u1edfng t\u1eeb (MRI)) \u1edf c\u00e1c thai nhi c\u00f3 ch\u1ea9n \u0111o\u00e1n x\u00e1c nh\u1eadn sau sinh ho\u1eb7c sau kh\u00e1m nghi\u1ec7m t\u1eed thi.<\/p>\n\n\n\n

PH\u01af\u01a0NG PH\u00c1P<\/h3>\n\n\n\n

Ch\u00fang t\u00f4i \u0111\u00e3 \u0111\u01b0a v\u00e0o nghi\u00ean c\u1ee9u h\u1ed3i c\u1ee9u n\u00e0y c\u00e1c thai nhi \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn c\u01a1 s\u1edf c\u1ee7a ch\u00fang t\u00f4i \u0111\u1ec3 ch\u1ee5p MRI n\u00e3o t\u1eeb n\u0103m 2007 \u0111\u1ebfn 2012 m\u00e0 \u0111\u00e1p \u1ee9ng c\u00e1c ti\u00eau ch\u00ed sau: n\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t (periventricular nodular heterotopia) PNH \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n tr\u00ean h\u00ecnh \u1ea3nh ti\u1ec1n s\u1ea3n (MRI v\u00e0 \u0111\u00f4i khi l\u00e0 si\u00eau \u00e2m), c\u00f3 th\u1ec3 \u0111\u01a1n \u0111\u1ed9c ho\u1eb7c \u0111i k\u00e8m v\u1edbi c\u00e1c d\u1ecb t\u1eadt n\u00e3o ho\u1eb7c ngo\u00e0i n\u00e3o kh\u00e1c; PNH \u0111\u01b0\u1ee3c x\u00e1c nh\u1eadn b\u1eb1ng MRI sau sinh ho\u1eb7c b\u1eb1ng k\u1ebft qu\u1ea3 kh\u00e1m nghi\u1ec7m t\u1eed thi. C\u00e1c thai nhi nghi ng\u1edd m\u1eafc PNH tr\u00ean h\u00ecnh \u1ea3nh ti\u1ec1n s\u1ea3n nh\u01b0ng kh\u00f4ng c\u00f3 x\u00e1c nh\u1eadn sau sinh ho\u1eb7c sau kh\u00e1m nghi\u1ec7m t\u1eed thi \u0111\u1ec1u b\u1ecb lo\u1ea1i tr\u1eeb. Nghi\u00ean c\u1ee9u n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c h\u1ed9i \u0111\u1ed3ng \u0111\u1ea1o \u0111\u1ee9c c\u1ea5p ph\u00e9p.<\/p>\n\n\n\n

Tr\u01b0\u1edbc khi ch\u1ee5p MRI, si\u00eau \u00e2m s\u1ea3n khoa \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n qua ng\u1ea3 b\u1ee5ng v\u1edbi h\u1ec7 th\u1ed1ng si\u00eau \u00e2m Toshiba (Aplio, Toshiba, Tokyo, Nh\u1eadt B\u1ea3n) c\u00f3 \u0111\u1ea7u d\u00f2 3.5 \u2013 6-MHz. Ph\u01b0\u01a1ng ph\u00e1p si\u00eau \u00e2m ng\u1ea3 \u00e2m \u0111\u1ea1o (\u0111\u1ea7u d\u00f2 6-MHz) \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng cho c\u00e1c thai nhi ng\u00f4i \u0111\u1ea7u. T\u1ea5t c\u1ea3 \u0111\u1ec1u \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n b\u1edfi m\u1ed9t b\u00e1c s\u0129 ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh \u0111\u01b0\u1ee3c \u0111\u00e0o t\u1ea1o (C.G.) v\u1edbi 20 n\u0103m kinh nghi\u1ec7m v\u1ec1 ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh thai nhi. T\u00ecnh tr\u1ea1ng PNH c\u00f3 nh\u00ecn th\u1ea5y \u0111\u01b0\u1ee3c hay kh\u00f4ng tr\u00ean si\u00eau \u00e2m \u1edf c\u00e1c m\u1eb7t c\u1eaft axial \u0111\u00e3 \u0111\u01b0\u1ee3c ghi l\u1ea1i. MRI thai nhi \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n b\u1eb1ng h\u1ec7 th\u1ed1ng 1.5-Tesla (Achieva Philips Medical Systems, Best, H\u00e0 Lan) s\u1eed d\u1ee5ng coil m\u1ea3ng pha b\u1ee5ng. C\u00e1c chu\u1ed7i xung h\u00ecnh \u1ea3nh bao g\u1ed3m \u00edt nh\u1ea5t chu\u1ed7i xung turbo spin-echo m\u1ed9t l\u1ea7n ch\u1ee5p T2 (TR\/TE (th\u1eddi gian l\u1eb7p\/th\u1eddi gian ph\u1ea3n h\u1ed3i), 15000\/120 ms; tr\u01b0\u1eddng nh\u00ecn t\u00f9y thu\u1ed9c v\u00e0o tu\u1ed5i thai; \u0111\u1ed9 d\u00e0y l\u00e1t c\u1eaft, 4 mm; kho\u1ea3ng c\u00e1ch, 2 mm; ma tr\u1eadn, 188 \u00d7 256) \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u00ean c\u00e1c m\u1eb7t ph\u1eb3ng axial, sagittal v\u00e0 coronal m\u1ed9t c\u00e1ch ch\u00ednh x\u00e1c (strictly). Khi c\u00f3 b\u1ea5t th\u01b0\u1eddng \u0111\u01b0\u1eddng gi\u1eefa, c\u00e1c l\u00e1t c\u1eaft T1 b\u1ed5 sung s\u1ebd \u0111\u01b0\u1ee3c ch\u1ee5p tr\u00ean m\u1eb7t ph\u1eb3ng sagittal. Ch\u1ea9n \u0111o\u00e1n PNH \u0111\u01b0\u1ee3c g\u1ee3i \u00fd tr\u00ean h\u00ecnh \u1ea3nh MRI n\u1ebfu c\u00e1c t\u1ed5n th\u01b0\u01a1ng n\u1eb1m quanh n\u00e3o th\u1ea5t, l\u1ed3i v\u00e0o trong l\u00f2ng n\u00e3o th\u1ea5t v\u00e0 c\u00f3 c\u00f9ng t\u00edn hi\u1ec7u v\u1edbi ch\u1ea5t x\u00e1m tr\u00ean t\u1ea5t c\u1ea3 c\u00e1c chu\u1ed7i xung.<\/p>\n\n\n\n

Ch\u00fang t\u00f4i \u0111\u00e3 thu th\u1eadp d\u1eef li\u1ec7u bao g\u1ed3m ti\u1ec1n s\u1eed gia \u0111\u00ecnh, gi\u1edbi t\u00ednh thai nhi v\u00e0 tu\u1ed5i thai t\u1ea1i th\u1eddi \u0111i\u1ec3m si\u00eau \u00e2m v\u00e0 MRI. Ch\u00fang t\u00f4i \u0111\u00e3 xem l\u1ea1i c\u00e1c h\u00ecnh \u1ea3nh si\u00eau \u00e2m v\u00e0 MRI ti\u1ec1n s\u1ea3n c\u0169ng nh\u01b0 h\u00ecnh \u1ea3nh MRI sau sinh. PNH \u0111\u01b0\u1ee3c ph\u00e2n t\u00edch h\u1ed3i c\u1ee9u v\u1ec1 m\u1eb7t k\u00edch th\u01b0\u1edbc v\u00e0 s\u1ed1 l\u01b0\u1ee3ng. K\u00edch th\u01b0\u1edbc \u0111\u01b0\u1ee3c coi l\u00e0 nh\u1ecf khi < 2 mm. C\u00e1c t\u1ed5n th\u01b0\u01a1ng l\u1ea1c ch\u1ed7 c\u00f3 th\u1ec3 \u0111\u01a1n \u0111\u1ed9c ho\u1eb7c nhi\u1ec1u. PNH lan t\u1ecfa t\u01b0\u01a1ng \u1ee9ng v\u1edbi s\u1ed1 l\u01b0\u1ee3ng t\u1ed5n th\u01b0\u01a1ng qu\u00e1 l\u1edbn \u0111\u1ec3 c\u00f3 th\u1ec3 \u0111\u1ebfm ch\u00ednh x\u00e1c. Th\u00e0nh c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t b\u00ean \u0111\u01b0\u1ee3c ki\u1ec3m tra v\u00e0 \u0111\u01b0\u1ee3c coi l\u00e0 kh\u00f4ng \u0111\u1ec1u khi c\u00f3 c\u00e1c v\u1ebft l\u00f5m r\u00f5 r\u00e0ng. H\u00ecnh d\u1ea1ng c\u1ee7a s\u1eebng tr\u00e1n v\u00e0 th\u00e2n th\u1ea5t b\u00ean c\u0169ng \u0111\u01b0\u1ee3c ph\u00e2n t\u00edch. K\u00edch th\u01b0\u1edbc c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t c\u0169ng \u0111\u01b0\u1ee3c ghi nh\u1eadn: gi\u00e3n n\u00e3o th\u1ea5t \u0111\u01b0\u1ee3c \u0111\u1ecbnh ngh\u0129a PNH \u0111\u01b0\u1ee3c ph\u00e2n t\u00edch h\u1ed3i c\u1ee9u v\u1ec1 m\u1eb7t k\u00edch th\u01b0\u1edbc v\u00e0 s\u1ed1 l\u01b0\u1ee3ng. K\u00edch th\u01b0\u1edbc \u0111\u01b0\u1ee3c coi l\u00e0 nh\u1ecf khi < 2 mm. C\u00e1c t\u1ed5n th\u01b0\u01a1ng l\u1ea1c ch\u1ed7 c\u00f3 th\u1ec3 \u0111\u01a1n \u0111\u1ed9c ho\u1eb7c nhi\u1ec1u. PNH lan t\u1ecfa t\u01b0\u01a1ng \u1ee9ng v\u1edbi s\u1ed1 l\u01b0\u1ee3ng t\u1ed5n th\u01b0\u01a1ng qu\u00e1 l\u1edbn \u0111\u1ec3 c\u00f3 th\u1ec3 \u0111\u1ebfm ch\u00ednh x\u00e1c. Th\u00e0nh c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t b\u00ean \u0111\u01b0\u1ee3c ki\u1ec3m tra v\u00e0 \u0111\u01b0\u1ee3c coi l\u00e0 kh\u00f4ng \u0111\u1ec1u khi c\u00f3 c\u00e1c v\u1ebft l\u00f5m r\u00f5 r\u00e0ng. H\u00ecnh d\u1ea1ng c\u1ee7a s\u1eebng tr\u00e1n v\u00e0 th\u00e2n th\u1ea5t b\u00ean c\u0169ng \u0111\u01b0\u1ee3c ph\u00e2n t\u00edch. K\u00edch th\u01b0\u1edbc c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t c\u0169ng \u0111\u01b0\u1ee3c ghi nh\u1eadn: gi\u00e3n n\u00e3o th\u1ea5t \u0111\u01b0\u1ee3c \u0111\u1ecbnh ngh\u0129a khi \u0111\u01b0\u1eddng k\u00ednh ng\u00e3 ba n\u00e3o th\u1ea5t (atrium) \u2265 10 mm \u1edf m\u1ed9t ho\u1eb7c hai b\u00ean. H\u01a1n n\u1eefa, khi c\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH nh\u1ecf v\u00e0 lan t\u1ecfa \u0111\u01a1n \u0111\u1ed9c \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y \u1edf thai nhi n\u1eef, MRI c\u1ee7a ng\u01b0\u1eddi m\u1eb9 s\u1ebd \u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh, bao g\u1ed3m \u00edt nh\u1ea5t c\u00e1c chu\u1ed7i xung T1 h\u1ed3i ph\u1ee5c \u0111\u1ea3o ng\u01b0\u1ee3c (inversion recuperation) coronal ho\u1eb7c axial.<\/p>\n\n\n\n

Ph\u00e2n t\u00edch di truy\u1ec1n \u0111\u1ed9t bi\u1ebfn FLNA<\/em> \u0111\u00e3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n trong hai tr\u01b0\u1eddng h\u1ee3p.<\/p>\n\n\n\n

Khi cha m\u1eb9 quy\u1ebft \u0111\u1ecbnh ch\u1ea5m d\u1ee9t thai k\u1ef3, kh\u00e1m nghi\u1ec7m t\u1eed thi s\u1ebd \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n. N\u1ebfu thai k\u1ef3 \u0111\u01b0\u1ee3c ti\u1ebfp t\u1ee5c, MRI sau sinh s\u1ebd \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u0111\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n PNH.<\/p>\n\n\n\n

K\u1ebeT QU\u1ea2<\/h3>\n\n\n\n

Trong giai \u0111o\u1ea1n nghi\u00ean c\u1ee9u, t\u1ea1i c\u01a1 s\u1edf c\u1ee7a ch\u00fang t\u00f4i c\u00f3 16 thai nhi nghi ng\u1edd m\u1eafc PNH tr\u00ean MRI n\u00e3o. N\u0103m tr\u01b0\u1eddng h\u1ee3p \u0111\u00e3 b\u1ecb lo\u1ea1i tr\u1eeb do kh\u00f4ng th\u1ec3 x\u00e1c nh\u1eadn l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m sau sinh ho\u1eb7c sau kh\u00e1m nghi\u1ec7m t\u1eed thi (v\u00ec t\u1ef1 ti\u00eau ho\u1eb7c t\u1eeb ch\u1ed1i kh\u00e1m nghi\u1ec7m). M\u01b0\u1eddi m\u1ed9t tr\u01b0\u1eddng h\u1ee3p \u0111\u00e1p \u1ee9ng c\u00e1c ti\u00eau ch\u00ed \u0111\u00e3 \u0111\u01b0\u1ee3c \u0111\u01b0a v\u00e0o (H\u00ecnh 1); nh\u1eefng thai nhi n\u00e0y \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn sau khi si\u00eau \u00e2m th\u01b0\u1eddng quy ph\u00e1t hi\u1ec7n m\u1ed9t ho\u1eb7c nhi\u1ec1u b\u1ea5t th\u01b0\u1eddng sau \u0111\u00e2y: gi\u00e3n h\u1ed1 sau (increased fluid-filled space of the posterior fossa) (n = 4), gi\u00e3n n\u00e3o th\u1ea5t (n = 5), b\u1ea5t s\u1ea3n th\u1ec3 chai (n = 4) v\u00e0 th\u00e0nh n\u00e3o th\u1ea5t kh\u00f4ng \u0111\u1ec1u (n = 3, bao g\u1ed3m m\u1ed9t tr\u01b0\u1eddng h\u1ee3p ng\u01b0\u1eddi m\u1eb9 \u0111\u00e3 \u0111\u01b0\u1ee3c bi\u1ebft l\u00e0 m\u1eafc PNH v\u00e0 mang \u0111\u1ed9t bi\u1ebfn gen FLNA<\/em>).<\/p>\n\n\n

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H\u00ecnh 1<\/strong> L\u01b0u \u0111\u1ed3 t\u00f3m t\u1eaft quy tr\u00ecnh \u0111\u01b0a c\u00e1c thai nhi c\u00f3 n\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m quanh n\u00e3o th\u1ea5t v\u00e0o nghi\u00ean c\u1ee9u, c\u00f9ng c\u00e1c ph\u00e1t hi\u1ec7n tr\u00ean c\u1ed9ng h\u01b0\u1edfng t\u1eeb (MRI) v\u00e0 si\u00eau \u00e2m.<\/em><\/p>\n\n\n\n

Kh\u1ea3o s\u00e1t si\u00eau \u00e2m chuy\u00ean s\u00e2u sau khi ch\u1ee5p MRI, \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n trong c\u00f9ng m\u1ed9t ng\u00e0y, t\u1ea1i tu\u1ed5i thai trung b\u00ecnh l\u00e0 31 tu\u1ea7n (dao \u0111\u1ed9ng t\u1eeb 23\u201334 tu\u1ea7n). Gi\u1edbi t\u00ednh thai nhi, ti\u1ec1n s\u1eed gia \u0111\u00ecnh v\u00e0 chi ti\u1ebft v\u1ec1 c\u00e1c d\u1ecb t\u1eadt b\u1ea9m sinh \u0111i k\u00e8m \u0111\u01b0\u1ee3c t\u00f3m t\u1eaft trong B\u1ea3ng 1. T\u1ea5t c\u1ea3, tr\u1eeb hai thai (Ca 6 v\u00e0 11) \u0111\u1ec1u l\u00e0 n\u1eef. C\u00e1c \u0111\u1eb7c \u0111i\u1ec3m si\u00eau \u00e2m c\u1ee7a PNH v\u00e0 h\u00ecnh th\u00e1i c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t b\u00ean t\u00f9y theo lo\u1ea1i d\u1ecb s\u1ea3n \u0111\u01b0\u1ee3c t\u00f3m t\u1eaft trong B\u1ea3ng 2.<\/p>\n\n\n

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PNH \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n qua si\u00eau \u00e2m chuy\u00ean s\u00e2u tr\u01b0\u1edbc khi ch\u1ee5p MRI trong b\u1ea3y tr\u01b0\u1eddng h\u1ee3p, b\u1ecb b\u1ecf s\u00f3t tr\u00ean si\u00eau \u00e2m v\u00e0 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n l\u1ea1i tr\u00ean MRI trong b\u1ed1n tr\u01b0\u1eddng h\u1ee3p: trong Ca 1, c\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH \u1edf hai b\u00ean, nh\u1ecf v\u00e0 lan t\u1ecfa, Ca 6 v\u00e0 11 c\u00f3 m\u1ed9t n\u1ed1t nh\u1ecf \u0111\u01a1n \u0111\u1ed9c v\u00e0 Ca 8 c\u00f3 m\u1ed9t n\u1ed1t l\u1edbn \u0111\u01a1n \u0111\u1ed9c. M\u1ed9t l\u1ea7n si\u00eau \u00e2m kh\u00e1c \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n sau MRI \u1edf b\u1ed1n ca b\u1ec7nh n\u00e0y, cho ph\u00e9p nh\u1eadn di\u1ec7n PNH b\u1eb1ng si\u00eau \u00e2m \u1edf Ca 1 v\u00e0 8. C\u00e1c n\u1ed1t l\u1ea1c ch\u1ed7 nh\u1ecf c\u00f3 th\u1ec3 nh\u00ecn th\u1ea5y tr\u00ean MRI \u1edf Ca 6 v\u00e0 11 kh\u00f4ng th\u1ec3 quan s\u00e1t \u0111\u01b0\u1ee3c b\u1eb1ng si\u00eau \u00e2m.<\/p>\n\n\n

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B\u1ea3ng 2 <\/strong>Ph\u00e2n t\u00edch c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m tr\u00ean si\u00eau \u00e2m c\u1ee7a n\u1ed1t l\u1ea1c ch\u1ed7 quanh n\u00e3o th\u1ea5t (PNH) v\u00e0 n\u00e3o th\u1ea5t b\u00ean \u1edf 11 thai nhi \u0111\u01b0\u1ee3c gi\u1edbi thi\u1ec7u \u0111\u1ebfn c\u01a1 s\u1edf c\u1ee7a ch\u00fang t\u00f4i \u0111\u1ec3 ch\u1ee5p c\u1ed9ng h\u01b0\u1edfng t\u1eeb n\u00e3o t\u1eeb n\u0103m 2007 \u0111\u1ebfn 2012.<\/em><\/p>\n\n\n\n

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H\u00ecnh 2<\/strong> C\u00e1c m\u1eb7t c\u1eaft ngang tr\u00ean si\u00eau \u00e2m qua ng\u1ea3 b\u1ee5ng (a, c, e, g) v\u00e0 h\u00ecnh \u1ea3nh c\u1ed9ng h\u01b0\u1edfng t\u1eeb (MR) T2 (b, d, f, h) \u1edf m\u1ee9c th\u00e2n th\u1ea5t b\u00ean c\u1ee7a Ca 1 (a, b), Ca 3 (c, d), Ca 4 (e, f) v\u00e0 Ca 7 (g, h). Trong t\u1ea5t c\u1ea3 c\u00e1c ca, h\u00ecnh \u1ea3nh si\u00eau \u00e2m v\u00e0 MR cho th\u1ea5y th\u00e0nh n\u00e3o th\u1ea5t hai b\u00ean kh\u00f4ng \u0111\u1ec1u v\u00e0 c\u00e1c n\u1ed1t quanh n\u00e3o th\u1ea5t nh\u1ecf, lan t\u1ecfa, c\u00f3 h\u1ed3i \u00e2m trung gian v\u00e0 t\u00edn hi\u1ec7u th\u1ea5p.<\/em><\/p>\n\n\n\n

Ph\u00e2n t\u00edch h\u00ecnh \u1ea3nh si\u00eau \u00e2m cho th\u1ea5y nh\u01b0 B\u1ea3ng 2. (1) Trong s\u00e1u ca, si\u00eau \u00e2m th\u1ea5y gi\u00e3n n\u00e3o th\u1ea5t m\u1ed9t b\u00ean (n = 4) ho\u1eb7c hai b\u00ean (n = 2). Gi\u00e3n n\u00e3o th\u1ea5t m\u1ed9t b\u00ean \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong hai ca PNH k\u00edch th\u01b0\u1edbc l\u1edbn v\u00e0 trong hai ca PNH nh\u1ecf, lan t\u1ecfa. (2) Khi PNH c\u00f3 th\u1ec3 nh\u00ecn th\u1ea5y tr\u00ean si\u00eau \u00e2m, ch\u00fang xu\u1ea5t hi\u1ec7n d\u01b0\u1edbi d\u1ea1ng c\u00e1c n\u1ed1t c\u00f3 k\u00edch th\u01b0\u1edbc kh\u00e1c nhau l\u1ed3i v\u00e0o trong  l\u00f2ng n\u00e3o th\u1ea5t v\u00e0 c\u00f3 h\u1ed3i \u00e2m trung gian. (3) Trong c\u00e1c ca PNH nh\u1ecf v\u00e0 lan t\u1ecfa (n = 7), th\u00e0nh n\u00e3o th\u1ea5t b\u00ean kh\u00f4ng \u0111\u1ec1u c\u00f3 th\u1ec3 nh\u00ecn th\u1ea5y tr\u00ean m\u1eb7t c\u1eaft axial \u1edf n\u0103m ca (gi\u00e3n n\u00e3o th\u1ea5t xu\u1ea5t hi\u1ec7n \u1edf ba trong s\u1ed1 n\u0103m ca n\u00e0y) (H\u00ecnh 2). Trong hai ca c\u00f2n l\u1ea1i, bao g\u1ed3m m\u1ed9t ca gi\u00e3n n\u00e3o th\u1ea5t hai b\u00ean v\u00e0 m\u1ed9t ca kh\u00f4ng gi\u00e3n n\u00e3o th\u1ea5t, kh\u00f4ng c\u00f3 b\u1ea5t th\u01b0\u1eddng n\u00e0o nh\u00ecn th\u1ea5y \u0111\u01b0\u1ee3c tr\u00ean m\u1eb7t c\u1eaft axial. (4) Trong c\u1ea3 b\u1ea3y ca PNH lan t\u1ecfa, s\u1eebng tr\u00e1n v\u00e0 th\u00e2n c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t b\u00ean bi\u1ec3u hi\u1ec7n m\u1ed9t h\u00ecnh th\u00e1i \u0111\u1eb7c tr\u01b0ng, v\u1edbi b\u1edd kh\u00f4ng \u0111\u1ec1u v\u00e0 c\u00f3 d\u1ea1ng vu\u00f4ng (H\u00ecnh 3). H\u00ecnh th\u00e1i n\u00e0y c\u0169ng \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y ch\u1ec9 \u1edf m\u1ed9t b\u00ean trong s\u1eebng tr\u00e1n b\u1ecb gi\u00e3n c\u1ee7a Ca 10.<\/p>\n\n\n\n

C\u00f3 c\u00e1c b\u1ea5t th\u01b0\u1eddng n\u00e3o \u0111i k\u00e8m trong b\u1ea3y ca (B\u1ea3ng 1). Ba trong s\u1ed1 b\u1ed1n ca c\u00f3 gi\u00e3n h\u1ed1 sau (increased fluid-filled space in the posterior fossa), nh\u01b0ng th\u1ef1c ra l\u1ea1i l\u00e0 m\u1ed9t nang h\u1ed1 sau (retrocerebellar cyst). B\u1ea5t s\u1ea3n th\u1ec3 chai \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong b\u1ed1n ca, bao g\u1ed3m hai ca c\u00f3 lo\u1ea1n s\u1ea3n n\u1eafp \u0111\u1ea3o (opercular dysplasia). \u0110a h\u1ed3i n\u00e3o nh\u1ecf (polymicrogyria) thi\u1ec3u s\u1ea3n th\u00f9y nh\u1ed9ng \u0111i k\u00e8m \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong m\u1ed9t ca. C\u00e1c d\u1ecb t\u1eadt ngo\u00e0i n\u00e3o \u0111i k\u00e8m c\u0169ng xu\u1ea5t hi\u1ec7n trong hai ca.<\/p>\n\n\n\n

Trong t\u1ea5t c\u1ea3 c\u00e1c ca, PNH bi\u1ec3u hi\u1ec7n tr\u00ean MRI d\u01b0\u1edbi d\u1ea1ng c\u00e1c n\u1ed1t quanh n\u00e3o th\u1ea5t l\u1ed3i v\u00e0o l\u00f2ng n\u00e3o th\u1ea5t v\u00e0 \u0111\u1ed3ng t\u00edn hi\u1ec7u v\u1edbi ch\u1ea5t x\u00e1m tr\u00ean c\u00e1c chu\u1ed7i xung T1 v\u00e0 T2. Trong c\u00e1c th\u1ec3 nh\u1ecf v\u00e0 lan t\u1ecfa hai b\u00ean, c\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH xu\u1ea5t hi\u1ec7n \u0111\u1eb7c bi\u1ec7t r\u00f5 n\u00e9t tr\u00ean c\u00e1c l\u00e1t c\u1eaft axial T2 \u1edf m\u1ee9c th\u00e2n n\u00e3o th\u1ea5t b\u00ean (H\u00ecnh 2). H\u00ecnh th\u00e1i vu\u00f4ng c\u1ee7a c\u00e1c s\u1eebng tr\u00e1n v\u00e0 th\u00e2n n\u00e3o th\u1ea5t, v\u1edbi b\u1edd kh\u00f4ng \u0111\u1ec1u, v\u1ed1n \u0111\u00e3 nh\u00ecn th\u1ea5y \u0111\u01b0\u1ee3c tr\u00ean h\u00ecnh \u1ea3nh si\u00eau \u00e2m coronal, c\u0169ng \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 r\u00f5 tr\u00ean c\u00e1c l\u00e1t c\u1eaft coronal T2 (H\u00ecnh 3).<\/p>\n\n\n\n

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H\u00ecnh 3<\/strong> M\u1eb7t c\u1eaft coronal tr\u00ean si\u00eau \u00e2m (a, c, e, g, i) v\u00e0 c\u1ed9ng h\u01b0\u1edfng t\u1eeb (MR) T2 (b, d, f, h, j) \u1edf m\u1ee9c s\u1eebng tr\u00e1n ho\u1eb7c th\u00e2n c\u00e1c n\u00e3o th\u1ea5t b\u00ean \u1edf Ca 1 (a, b), Ca 3 (c (si\u00eau \u00e2m qua ng\u1ea3 \u00e2m \u0111\u1ea1o), d), Ca 7 (e, f), Ca 9 (g, h) v\u00e0 Ca 10 (i, j). Trong t\u1ea5t c\u1ea3 c\u00e1c ca, si\u00eau \u00e2m v\u00e0 MR \u0111\u1ec1u cho th\u1ea5y h\u00ecnh th\u00e1i vu\u00f4ng c\u1ee7a c\u00e1c n\u00e3o th\u1ea5t b\u00ean. \u1ede Ca 10, c\u1ea7n l\u01b0u \u00fd h\u00ecnh th\u00e1i h\u00ecnh vu\u00f4ng c\u1ee7a n\u00e3o th\u1ea5t ch\u1ec9 nh\u00ecn th\u1ea5y \u1edf b\u00ean c\u00f3 gi\u00e3n n\u00e3o th\u1ea5t.<\/em><\/p>\n\n\n\n

MRI n\u00e3o ng\u01b0\u1eddi m\u1eb9 \u0111\u00e3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u1edf n\u0103m trong s\u1ed1 s\u00e1u ca PNH \u0111\u01a1n \u0111\u1ed9c, nh\u1ecf, lan t\u1ecfa \u1edf thai nhi n\u1eef, v\u00e0 cho th\u1ea5y PNH \u1edf ng\u01b0\u1eddi m\u1eb9 trong hai ca.<\/p>\n\n\n\n

Trong hai ca (Ca 1, 2), \u0111\u1ed9t bi\u1ebfn FLNA<\/em> \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m v\u00e0 cho k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh (Ca 1: sau kh\u00e1m nghi\u1ec7m t\u1eed thi; Ca 2: tr\u01b0\u1edbc sinh).<\/p>\n\n\n\n

Sau khi t\u01b0 v\u1ea5n ti\u1ec1n s\u1ea3n, cha m\u1eb9 \u0111\u00e3 ch\u1ecdn ch\u1ea5m d\u1ee9t thai k\u1ef3 \u1edf s\u00e1u trong s\u1ed1 m\u01b0\u1eddi m\u1ed9t ca, nh\u1eefng ng\u01b0\u1eddi c\u00f2n l\u1ea1i ti\u1ebfp t\u1ee5c thai k\u1ef3. K\u1ebft qu\u1ea3 MRI sau sinh ho\u1eb7c kh\u00e1m nghi\u1ec7m t\u1eed thi lu\u00f4n x\u00e1c nh\u1eadn c\u00e1c ph\u00e1t hi\u1ec7n tr\u00ean ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh ti\u1ec1n s\u1ea3n. N\u0103m tr\u1ebb \u0111\u01b0\u1ee3c sinh ra s\u1ed1ng c\u00f3 s\u1ef1 ph\u00e1t tri\u1ec3n th\u1ea7n kinh b\u00ecnh th\u01b0\u1eddng nh\u01b0ng t\u1ea5t c\u1ea3 \u0111\u1ec1u d\u01b0\u1edbi 6 tu\u1ed5i t\u1ea1i th\u1eddi \u0111i\u1ec3m vi\u1ebft b\u00e0i; tu\u1ed5i kh\u1edfi ph\u00e1t c\u00e1c c\u01a1n co gi\u1eadt kh\u00e1c nhau \u1edf c\u00e1c b\u1ec7nh nh\u00e2n m\u1eafc PNH.<\/p>\n\n\n\n

TH\u1ea2O LU\u1eacN<\/h3>\n\n\n\n

C\u00e1c nguy\u00ean b\u00e0o th\u1ea7n kinh (neuroblasts) ph\u00e1t sinh t\u1eeb v\u00f9ng m\u1ea7m (germinal matrix) (\u1edf v\u00f9ng d\u01b0\u1edbi m\u00e0ng n\u1ed9i t\u1ee7y) v\u00e0 h\u1ea7u h\u1ebft ch\u00fang di chuy\u1ec3n v\u1ec1 ph\u00eda v\u1ecf n\u00e3o, \u0111\u1ebfn c\u00e1c v\u1ecb tr\u00ed \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh tr\u01b0\u1edbc. M\u00f4 ch\u1ea5t x\u00e1m l\u1ea1c ch\u1ed7 l\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a s\u1ef1 ng\u1eebng di c\u01b0 c\u1ee7a c\u00e1c t\u1ebf b\u00e0o th\u1ea7n kinh.<\/p>\n\n\n\n

PNH th\u01b0\u1eddng kh\u00f4ng \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n th\u01b0\u1eddng quy. Tuy nhi\u00ean, theo kinh nghi\u1ec7m c\u1ee7a ch\u00fang t\u00f4i, \u1edf c\u00e1c tr\u1ebb \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn c\u01a1 s\u1edf c\u1ee7a ch\u00fang t\u00f4i, PNH th\u01b0\u1eddng xuy\u00ean \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n tr\u00ean MRI sau sinh. Khi PNH \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n tr\u00ean ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh ti\u1ec1n s\u1ea3n, trong h\u1ea7u h\u1ebft c\u00e1c ca, \u0111\u00f3 l\u00e0 nh\u1edd MRI, \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n v\u00ec m\u1ed9t ch\u1ec9 \u0111\u1ecbnh kh\u00e1c. Trong nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i, ch\u1ec9 c\u00f3 ba ph\u1ee5 n\u1eef \u0111\u01b0\u1ee3c chuy\u1ec3n \u0111\u1ebfn v\u00ec nghi ng\u1edd PNH v\u00e0 th\u1eadm ch\u00ed m\u1ed9t kh\u1ea3o s\u00e1t si\u00eau \u00e2m th\u1ea7n kinh chuy\u00ean s\u00e2u \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u01b0\u1edbc MRI \u0111\u00e3 b\u1ecf s\u00f3t PNH trong b\u1ed1n ca. \u1ede Ca 8, n\u1ed1t \u0111\u01a1n \u0111\u1ed9c k\u00edch th\u01b0\u1edbc l\u1edbn ch\u1ec9 nh\u00ecn th\u1ea5y \u0111\u01b0\u1ee3c tr\u00ean m\u1eb7t ph\u1eb3ng c\u1ea1nh d\u1ecdc gi\u1eefa (parasagittal), v\u1ed1n kh\u00f4ng \u0111\u01b0\u1ee3c ch\u1ee5p \u0111\u00fang c\u00e1ch trong l\u1ea7n si\u00eau \u00e2m tr\u01b0\u1edbc MRI, v\u00e0 d\u1ec5 d\u00e0ng nh\u00ecn th\u1ea5y trong l\u1ea7n ki\u1ec3m tra th\u1ee9 hai sau MRI. T\u1ed5n th\u01b0\u01a1ng PNH nh\u1ecf \u0111\u01a1n \u0111\u1ed9c, n\u1eb1m d\u1ecdc theo ng\u00e3 ba n\u00e3o th\u1ea5t trong m\u1ed9t thai nhi b\u1ecb b\u1ea5t s\u1ea3n th\u1ec3 chai (Ca 6) v\u00e0 li\u1ec1n k\u1ec1 v\u1edbi m\u1ed9t s\u1eebng tr\u00e1n trong m\u1ed9t thai nhi kh\u00e1c b\u1ecb b\u1ea5t s\u1ea3n th\u1ec3 chai (Ca 11), \u0111\u00e3 b\u1ecb b\u1ecf s\u00f3t ngay c\u1ea3 khi xem l\u1ea1i, r\u1ea5t c\u00f3 th\u1ec3 l\u00e0 do kh\u00f4ng \u0111\u1ee7 \u0111\u1ed9 ph\u00e2n gi\u1ea3i t\u01b0\u01a1ng ph\u1ea3n. \u1ede Ca 1, v\u1edbi PNH nh\u1ecf v\u00e0 lan t\u1ecfa, l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m g\u1ea7n nh\u01b0 kh\u00f4ng th\u1ec3 nh\u00ecn th\u1ea5y \u0111\u01b0\u1ee3c ngay c\u1ea3 khi ki\u1ec3m tra l\u1ea1i tr\u00ean c\u00e1c l\u00e1t c\u1eaft axial. \u0110\u00e1ng ch\u00fa \u00fd l\u00e0 trong ca n\u00e0y, c\u00e1c n\u00e3o th\u1ea5t b\u00ean kh\u00f4ng b\u1ecb gi\u00e3n.<\/p>\n\n\n\n

R\u1ea5t \u00edt b\u00e0i b\u00e1o c\u00e1o v\u1ec1 c\u00e1c ca PNH \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n b\u1eb1ng si\u00eau \u00e2m ti\u1ec1n s\u1ea3n. Ba d\u1ea5u hi\u1ec7u si\u00eau \u00e2m \u0111\u01b0\u1ee3c coi l\u00e0 g\u1ee3i \u00fd PNH: th\u00e0nh n\u00e3o th\u1ea5t b\u00ean kh\u00f4ng \u0111\u1ec1u, d\u1ea3i t\u0103ng \u00e2m quanh n\u00e3o th\u1ea5t v\u00e0 m\u1ed9t ho\u1eb7c nhi\u1ec1u n\u1ed1t t\u0103ng \u00e2m quanh n\u00e3o th\u1ea5t, c\u00f3 xu h\u01b0\u1edbng l\u1ed3i v\u00e0o trong l\u00f2ng n\u00e3o th\u1ea5t.<\/p>\n\n\n\n

Nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i l\u00e0m n\u1ed5i b\u1eadt m\u1ed9t s\u1ed1 \u0111i\u1ec3m sau:<\/p>\n\n\n\n

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  • PNH c\u00f3 th\u01b0\u1eddng c\u00f3 h\u1ed3i \u00e2m trung gian h\u01a1n l\u00e0 t\u0103ng \u00e2m.<\/li>\n\n\n\n
  • C\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH nh\u1ecf v\u00e0 lan t\u1ecfa c\u00f3 th\u1ec3 th\u1ea5y \u0111\u01b0\u1ee3c \u1edf m\u1eb7t c\u1eaft axial tr\u00ean si\u00eau \u00e2m, gi\u1ed1ng nh\u01b0 tr\u00ean MRI, \u1edf m\u1ee9c th\u00e2n c\u00e1c n\u00e3o th\u1ea5t b\u00ean (n\u0103m trong s\u1ed1 b\u1ea3y ca) v\u00e0 nh\u1eefng h\u00ecnh \u1ea3nh n\u00e0y r\u1ea5t c\u00f3 gi\u00e1 tr\u1ecb.<\/li>\n\n\n\n
  • C\u00e1c m\u1eb7t coronal tr\u00ean si\u00eau \u00e2m c\u00f3 vai tr\u00f2 quan tr\u1ecdng trong ch\u1ea9n \u0111o\u00e1n PNH. H\u00ecnh d\u00e1ng vu\u00f4ng v\u00e0 b\u1edd kh\u00f4ng \u0111\u1ec1u c\u1ee7a s\u1eebng tr\u00e1n v\u00e0 th\u00e2n c\u00e1c n\u00e3o th\u1ea5t b\u00ean \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong t\u1ea5t c\u1ea3 c\u00e1c ca PNH lan t\u1ecfa ho\u1eb7c nhi\u1ec1u n\u1ed1t v\u00e0 d\u01b0\u1eddng nh\u01b0 \u0111\u1ea1i di\u1ec7n cho m\u1ed9t h\u00ecnh th\u00e1i \u0111i\u1ec3n h\u00ecnh c\u1ee7a PNH. D\u1ea5u hi\u1ec7u n\u00e0y kh\u00f4ng xu\u1ea5t hi\u1ec7n khi c\u00e1c n\u00e3o th\u1ea5t h\u1ea7u nh\u01b0 kh\u00f4ng \u0111\u01b0\u1ee3c nh\u00ecn th\u1ea5y (m\u1ed9t trong hai s\u1eebng tr\u00e1n \u1edf Ca 10). C\u00e1c m\u1eb7t c\u1eaft coronal ph\u00eda tr\u01b0\u1edbc kh\u00f4ng c\u00f3 gi\u00e1 tr\u1ecb trong c\u00e1c t\u1ed5n th\u01b0\u01a1ng PNH \u0111\u01a1n l\u1ebb, tr\u1eeb khi n\u1ed1t l\u1ea1c ch\u1ed7 li\u1ec1n k\u1ec1 v\u1edbi s\u1eebng tr\u00e1n. M\u1ed9t ca nh\u01b0 v\u1eady \u0111\u00e3 \u0111\u01b0\u1ee3c Malinger v\u00e0 c\u1ed9ng s\u1ef1 b\u00e1o c\u00e1o. \u1ede Ca 11, d\u1ea5u hi\u1ec7u n\u00e0y kh\u00f4ng xu\u1ea5t hi\u1ec7n v\u00ec s\u1eebng tr\u00e1n kh\u00f4ng b\u1ecb gi\u00e3n v\u00e0 do \u0111\u00f3 l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m \u0111\u00e3 b\u1ecb b\u1ecf s\u00f3t. S\u1eebng tr\u00e1n c\u00f3 h\u00ecnh vu\u00f4ng c\u0169ng \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y trong b\u1ea5t s\u1ea3n v\u00e1ch trong su\u1ed1t, nh\u01b0ng trong tr\u01b0\u1eddng h\u1ee3p n\u00e0y, ch\u00fang d\u00ednh v\u00e0o nhau v\u00e0 c\u00e1c b\u1edd kh\u00f4ng kh\u00f4ng \u0111\u1ec1u. M\u00e1i c\u1ee7a s\u1eebng tr\u00e1n h\u00ecnh vu\u00f4ng c\u0169ng g\u1ee3i \u00fd t\u1eadt n\u00e3o tr\u01b0\u1edbc kh\u00f4ng ph\u00e2n chia th\u1ec3 lobar, nh\u01b0ng trong tr\u01b0\u1eddng h\u1ee3p n\u00e0y n\u00f3 \u0111i k\u00e8m v\u1edbi b\u1ea5t s\u1ea3n v\u00e1ch trong su\u1ed1t v\u00e0 gi\u00e3n n\u00e3o th\u1ea5t.<\/li>\n\n\n\n
  • PNH \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o l\u00e0 th\u01b0\u1eddng \u0111i k\u00e8m v\u1edbi gi\u00e3n n\u00e3o th\u1ea5t. Th\u1eadt th\u00fa v\u1ecb, trong nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i, gi\u00e3n n\u00e3o th\u1ea5t kh\u00f4ng xu\u1ea5t hi\u1ec7n trong n\u0103m ca v\u00e0 ch\u1ec9 d\u00e3n m\u1ed9t b\u00ean trong hai ca c\u00f3 l\u1ea1c ch\u1ed7 hai b\u00ean.<\/li>\n\n\n\n
  • Trong ba trong s\u1ed1 11 ca, PNH \u0111i k\u00e8m v\u1edbi m\u1ed9t nang h\u1ed1 sau (retrocerebellar cyst).<\/li>\n<\/ul>\n\n\n\n

    B\u1edd th\u00e0nh n\u00e3o th\u1ea5t b\u1ecb l\u00f5m th\u01b0\u1eddng \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 tr\u00ean MRI r\u00f5 h\u01a1n tr\u00ean si\u00eau \u00e2m do \u0111\u1ed9 ph\u00e2n gi\u1ea3i t\u01b0\u01a1ng ph\u1ea3n m\u00f4 m\u1ec1m v\u01b0\u1ee3t tr\u1ed9i. Tuy nhi\u00ean, PNH c\u0169ng c\u00f3 th\u1ec3 b\u1ecb b\u1ecf s\u00f3t tr\u00ean MRI thai nhi v\u1edbi \u0111\u1ed9 nh\u1ea1y v\u00e0 \u0111\u1ed9 \u0111\u1eb7c hi\u1ec7u c\u1ee7a MRI trong vi\u1ec7c ph\u00e1t hi\u1ec7n PNH \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o l\u1ea7n l\u01b0\u1ee3t l\u00e0 73% v\u00e0 92%. Tr\u00ean MRI, PNH xu\u1ea5t hi\u1ec7n d\u01b0\u1edbi d\u1ea1ng c\u00e1c n\u1ed1t quanh n\u00e3o th\u1ea5t l\u1ed3i v\u00e0o l\u00f2ng n\u00e3o th\u1ea5t, \u0111\u1ed3ng t\u00edn hi\u1ec7u v\u1edbi ch\u1ea5t x\u00e1m tr\u00ean t\u1ea5t c\u1ea3 c\u00e1c chu\u1ed7i xung. L\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m c\u00f3 bi\u1ec3u hi\u1ec7n h\u00ecnh th\u00e1i r\u1ea5t gi\u1ed1ng nhau tr\u00ean MRI ti\u1ec1n s\u1ea3n v\u00e0 MRI sau sinh.<\/p>\n\n\n\n

    \u0110\u1ec3 t\u01b0 v\u1ea5n ti\u1ec1n s\u1ea3n ch\u00ednh x\u00e1c cho cha m\u1eb9, \u0111i\u1ec1u quan tr\u1ecdng l\u00e0 ph\u1ea3i x\u00e1c \u0111\u1ecbnh l\u1ea1c ch\u1ed7 l\u00e0 \u0111\u01a1n \u0111\u1ed9c hay ph\u00e1t tri\u1ec3n c\u00f9ng v\u1edbi c\u00e1c d\u1ecb t\u1eadt b\u1ea9m sinh c\u1ee7a n\u00e3o. B\u1ea5t s\u1ea3n th\u1ec3 chai \u0111\u00e3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o trong 19% tr\u1ebb em c\u00f3 n\u1ed1t l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m. Nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i \u0111\u00e3 b\u1ecb b\u1ecf s\u00f3t hai ca trong b\u1ed1n ca b\u1ea5t s\u1ea3n th\u1ec3 chai k\u00e8m l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m (Ca 6 v\u00e0 11); \u0111i\u1ec1u n\u00e0y ph\u00f9 h\u1ee3p v\u1edbi k\u1ebft qu\u1ea3 \u0111\u01b0\u1ee3c b\u00e1o c\u00e1o b\u1edfi Volpe v\u00e0 c\u1ed9ng s\u1ef1 nh\u01b0ng kh\u00e1c v\u1edbi nh\u1eefng g\u00ec Glenn v\u00e0 c\u1ed9ng s\u1ef1 \u0111\u00e3 b\u00e1o c\u00e1o, theo \u0111\u00f3 ba ca l\u1ea1c ch\u1ed7 \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n tr\u00ean MRI ti\u1ec1n s\u1ea3n \u0111\u00e3 \u0111\u01b0\u1ee3c nghi ng\u1edd tr\u00ean si\u00eau \u00e2m. H\u1ed9i ch\u1ee9ng Aicardi l\u00e0 m\u1ed9t b\u1ed9 ba g\u1ed3m co gi\u1eadt nh\u0169 nhi (infantile spasms), b\u1ea5t s\u1ea3n th\u1ec3 chai v\u00e0 c\u00e1c v\u1ebft khuy\u1ebft m\u00e0ng m\u1ea1ch – v\u00f5ng m\u1ea1c (chorioretinal lacunae), v\u00e0 l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m c\u00f3 th\u1ec3 hi\u1ec7n di\u1ec7n. H\u1ed9i ch\u1ee9ng n\u00e0y \u0111\u01b0\u1ee3c cho l\u00e0 do \u0111\u1ed9t bi\u1ebfn de novo<\/em> trong m\u1ed9t gen li\u00ean k\u1ebft X v\u00e0 g\u00e2y t\u1eed vong \u1edf nam gi\u1edbi c\u00f3 b\u1ed9 nhi\u1ec5m s\u1eafc th\u1ec3 46,XY. \u1ede n\u1eef gi\u1edbi m\u1eafc h\u1ed9i ch\u1ee9ng Aicardi, ch\u1ee9ng \u0111\u1ed9ng kinh kh\u00e1ng tr\u1ecb ph\u00e1t tri\u1ec3n theo th\u1eddi gian. L\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m c\u0169ng c\u00f3 th\u1ec3 \u0111i k\u00e8m v\u1edbi c\u00e1c b\u1ea5t th\u01b0\u1eddng \u1edf h\u1ed1 sau v\u00e0 v\u1ecf n\u00e3o (\u0111a h\u1ed3i n\u00e3o nh\u1ecf).<\/p>\n\n\n\n

    Nhi\u1ec1u gen v\u00e0 \u0111\u1ed9t bi\u1ebfn li\u00ean quan \u0111\u1ebfn PNH \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh. Filamin A, \u0111\u01b0\u1ee3c m\u00e3 h\u00f3a b\u1edfi gen FLNA<\/em> n\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 X, \u0111\u00e3 \u0111\u01b0\u1ee3c ch\u1ee9ng minh \u0111\u00f3ng vai tr\u00f2 then ch\u1ed1t trong qu\u00e1 tr\u00ecnh di tr\u00fa c\u1ee7a c\u00e1c nguy\u00ean b\u00e0o th\u1ea7n kinh (neuroblast). \u0110\u00e1ng ch\u00fa \u00fd, lo\u1ea1t ca c\u1ee7a ch\u00fang t\u00f4i cho th\u1ea5y t\u1ef7 l\u1ec7 n\u1eef gi\u1edbi chi\u1ebfm \u01b0u th\u1ebf r\u00f5 r\u1ec7t. C\u00e1c \u0111\u1ed9t bi\u1ebfn \u1edf gen FLNA<\/em> c\u00f3 li\u00ean quan \u0111\u1ebfn ki\u1ec3u h\u00ecnh th\u01b0\u1eddng g\u1eb7p nh\u1ea5t c\u1ee7a l\u1ea1c ch\u1ed7 ch\u1ea5t x\u00e1m l\u00e0 PNH hai b\u00ean. Do \u0111\u00f3, ch\u00fang t\u00f4i ch\u1ec9 \u0111\u1ec1 ngh\u1ecb ch\u1ee5p MRI cho ng\u01b0\u1eddi m\u1eb9 trong nh\u1eefng tr\u01b0\u1eddng h\u1ee3p ph\u00e1t hi\u1ec7n PNH nh\u1ecf v\u00e0 lan t\u1ecfa \u1edf thai n\u1eef. Tuy nhi\u00ean, c\u00e1c \u0111\u1ed9t bi\u1ebfn \u1edf gen FLNA<\/em> c\u0169ng \u0111\u00e3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong nh\u1eefng ki\u1ec3u h\u00ecnh \u00edt g\u1eb7p h\u01a1n, ch\u1eb3ng h\u1ea1n nh\u01b0 PNH m\u1ed9t b\u00ean v\u00e0 h\u1ed9i ch\u1ee9ng Ehlers\u2013Danlos. PNH hai b\u00ean \u0111i\u1ec3n h\u00ecnh c\u0169ng \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y \u1edf nh\u1eefng tr\u01b0\u1eddng h\u1ee3p c\u00f3 b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3 ho\u1eb7c di truy\u1ec1n kh\u00e1c ngo\u00e0i \u0111\u1ed9t bi\u1ebfn FLNA<\/em> (\u0111\u1ed9t bi\u1ebfn ARFGEF2, h\u1ed9i ch\u1ee9ng Williams v\u00e0 b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3 5p).<\/p>\n\n\n\n

    Th\u00f4ng th\u01b0\u1eddng, n\u1eef gi\u1edbi m\u1eafc PNH li\u00ean k\u1ebft nhi\u1ec5m s\u1eafc th\u1ec3 X c\u00f3 tr\u00ed tu\u1ec7 b\u00ecnh th\u01b0\u1eddng ho\u1eb7c ch\u1ec9 suy gi\u1ea3m tr\u00ed tu\u1ec7 nh\u1eb9, k\u00e8m theo c\u00e1c c\u01a1n co gi\u1eadt kh\u1edfi ph\u00e1t mu\u1ed9n. Nam gi\u1edbi th\u01b0\u1eddng t\u1eed vong tr\u01b0\u1edbc sinh; n\u1ebfu s\u1ed1ng s\u00f3t, h\u1ecd s\u1ebd bi\u1ec3u hi\u1ec7n c\u00e1c khi\u1ebfm khuy\u1ebft th\u1ea7n kinh v\u00e0 tr\u00ed tu\u1ec7 nghi\u00eam tr\u1ecdng, m\u1eb7c d\u00f9 c\u0169ng \u0111\u00e3 c\u00f3 b\u00e1o c\u00e1o v\u1ec1 nh\u1eefng tr\u01b0\u1eddng h\u1ee3p ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng v\u00e0 b\u1ecb \u0111\u1ed9ng kinh.<\/p>\n\n\n\n

    K\u1ebft lu\u1eadn: th\u00e0nh n\u00e3o th\u1ea5t kh\u00f4ng \u0111\u1ec1u v\u00e0 c\u00e1c n\u1ed1t l\u1ed3i v\u00e0o l\u00f2ng n\u00e3o th\u1ea5t l\u00e0 nh\u1eefng d\u1ea5u hi\u1ec7u h\u00ecnh \u1ea3nh kinh \u0111i\u1ec3n g\u1ee3i \u00fd PNH. Do \u0111\u1ed9 ph\u00e2n gi\u1ea3i t\u01b0\u01a1ng ph\u1ea3n k\u00e9m c\u1ee7a si\u00eau \u00e2m thai, c\u00e1c d\u1ea5u hi\u1ec7u n\u00e0y c\u00f3 th\u1ec3 b\u1ecb b\u1ecf s\u00f3t v\u00e0 PNH c\u00f3 kh\u1ea3 n\u0103ng b\u1ecb ch\u1ea9n \u0111o\u00e1n thi\u1ebfu ngay c\u1ea3 khi th\u1ef1c hi\u1ec7n c\u00e1c kh\u1ea3o s\u00e1t chuy\u00ean s\u00e2u. Ch\u00fang t\u00f4i m\u00f4 t\u1ea3 m\u1ed9t d\u1ea5u hi\u1ec7u m\u1edbi: s\u1eebng tr\u00e1n v\u00e0 th\u00e2n c\u1ee7a n\u00e3o th\u1ea5t b\u00ean c\u00f3 d\u1ea1ng vu\u00f4ng v\u00e0 b\u1edd kh\u00f4ng \u0111\u1ec1u, d\u1ec5 ph\u00e1t hi\u1ec7n h\u01a1n tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n v\u00e0 r\u1ea5t g\u1ee3i \u00fd PNH. D\u1ea5u hi\u1ec7u n\u00e0y n\u00ean \u0111\u01b0\u1ee3c t\u00ecm ki\u1ebfm khi si\u00eau \u00e2m ti\u1ec1n s\u1ea3n trong c\u00e1c t\u00ecnh hu\u1ed1ng \u0111\u00e3 bi\u1ebft c\u00f3 li\u00ean quan \u0111\u1ebfn PNH (c\u00f3 gi\u00e3n n\u00e3o th\u1ea5t, b\u1ea5t s\u1ea3n th\u1ec3 chai v\u00e0, nh\u01b0 quan s\u00e1t trong lo\u1ea1t ca c\u1ee7a ch\u00fang t\u00f4i, gi\u00e3n h\u1ed1 sau).<\/p>\n\n\n\n

    L\u1edcI C\u1ea2M \u01a0N<\/h3>\n\n\n\n

    Ch\u00fang t\u00f4i xin ghi nh\u1eadn s\u1ef1 h\u1ee3p t\u00e1c c\u1ee7a c\u00e1c th\u00e0nh vi\u00ean \u0111\u1ed9i ng\u0169 Y h\u1ecdc b\u00e0o thai thu\u1ed9c Trung t\u00e2m Ch\u1ea9n \u0111o\u00e1n Ti\u1ec1n s\u1ea3n \u0111a chuy\u00ean khoa \u0110\u00f4ng Paris<\/p>\n\n\n\n

    T\u00c0I LI\u1ec6U THAM KH\u1ea2O<\/h3>\n\n\n\n
      \n
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    27. Fergelot P, Coupry I, Rooryck C, Deforges J, Maurat E, Sole G, Boute O, Dieux-Coeslier A, David A, Marchal C, Thambo JB, Lacombe D, Arveiler B, Goizet C. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. Eur J Med Genet 2012; 55: 313 \u2013 318<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

      Periventricular nodular heterotopia – PNH th\u01b0\u1eddng b\u1ecb ch\u1ea9n \u0111o\u00e1n s\u00f3t tr\u00ean si\u00eau \u00e2m ti\u1ec1n s\u1ea3n, ngay c\u1ea3 trong kh\u1ea3o s\u00e1t chuy\u00ean s\u00e2u. <\/p>\n","protected":false},"author":1,"featured_media":1163,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1,2,5,71,84],"tags":[88,89,87],"class_list":["post-1154","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-khong-phan-loai","category-doc-sach-cho-vui","category-sieu-am","category-tap-chi-bao-cao","category-thai","tag-lac-cho-chat-xam","tag-periventricular-nodular-heterotopia","tag-pnh"],"_links":{"self":[{"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/posts\/1154","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/comments?post=1154"}],"version-history":[{"count":15,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/posts\/1154\/revisions"}],"predecessor-version":[{"id":1187,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/posts\/1154\/revisions\/1187"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/media\/1163"}],"wp:attachment":[{"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/media?parent=1154"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/categories?post=1154"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cdha.edu.vn\/cdha\/wp-json\/wp\/v2\/tags?post=1154"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}