síndrome de meckel.pmd - SPR
síndrome de meckel.pmd - SPR
síndrome de meckel.pmd - SPR
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Martins EML et al. / Síndrome <strong>de</strong> Meckel-Gruber: relato <strong>de</strong> caso<br />
realização do cariótipo fetal para o auxílio no diagnóstico<br />
e aconselhamento genético, já que esta doença possui<br />
herança autossômica recessiva e, assim, há risco <strong>de</strong><br />
recorrência <strong>de</strong> 25% em gestações futuras.<br />
A trissomia do cromossomo 13 é uma doença que<br />
<strong>de</strong>ve ser <strong>de</strong>scartada através do cariótipo fetal, pois os<br />
fetos também po<strong>de</strong>m apresentar rins policísticos em até<br />
30% dos casos, além <strong>de</strong> polidactilia e <strong>de</strong>feitos do tubo<br />
neural [10] .<br />
A associação da <strong>síndrome</strong> <strong>de</strong> Meckel-Gruber com a<br />
lisencefalia não foi encontrada na revisão da literatura.<br />
É importante ressaltar que a <strong>síndrome</strong> <strong>de</strong> Miller-Dieker,<br />
também conhecida como lisencefalia do tipo I, é secundária<br />
a uma alteração no cromossomo 17 e po<strong>de</strong> estar<br />
associada a algumas anomalias idênticas à <strong>síndrome</strong> <strong>de</strong><br />
Meckel-Gruber, como a polidactilia e as anomalias genitais<br />
e do trato urinário. Um dado importante que <strong>de</strong>ve<br />
ser <strong>de</strong>finido é o sexo da criança, pois a lisencefalia do<br />
tipo I apresenta uma relação homem/mulher da or<strong>de</strong>m<br />
<strong>de</strong> 1:2,25, enquanto na <strong>síndrome</strong> <strong>de</strong> Meckel-Gruber não<br />
existe predomínio em relação ao sexo..<br />
A <strong>síndrome</strong> <strong>de</strong> Meckel-Gruber é incompatível com<br />
a vida e a maioria dos fetos vai a óbito em conseqüência<br />
<strong>de</strong> hipoplasia pulmonar logo após o nascimento. Dos<br />
nove casos estudados por Blankenberg e cols. [8] , cinco<br />
fetos nasceram vivos, mas o tempo máximo <strong>de</strong> sobrevida<br />
foi <strong>de</strong> 30 horas.<br />
REFERÊNCIAS<br />
1. Meckel JF. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen<br />
entstellter Geshwister. Dtsch Arch Physiol 1822;7:<br />
99–172.<br />
2. Dahiya N, Vijay S, Prabhakar S, Subramaniam S, Neha Dahiya.<br />
Antenatal ultrasound diagnosis of Meckel-Gruber syndrome. Ind<br />
J Radiol Imaging 2001;11:199–201.<br />
3. Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel Gruber<br />
syndrome. Am J Med Genet 1981;6:694–6.<br />
12<br />
4. Rapola J, Salonen R. Visceral anomalies in the Meckel syndrome.<br />
Teratology 1985;31:193–201.<br />
5. Salonen R, Norio R. The Meckel syndrome in Finland: epi<strong>de</strong>miologic<br />
and genetic aspects. Am J Med Genet 1984;18:691–8.<br />
6. Silva MVC, Senanayake HM. Fibrosis of the liver in Meckel-<br />
Gruber syndrome. Ind Pediatr 2001;38:1325–6.<br />
7. Malguria N, Merchant SA, Kiran KV, Verghese SL. Meckel-<br />
Gruber syndrome associated with short limbed dwarfism. J<br />
Postgrad Med 1996;42:55–6.<br />
8. Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick<br />
JE. Pathology of renal and hepatic anomalies in Meckel syndrome.<br />
Am J Med Genet 1987;3:395–410.<br />
9. Ahdab-Barmada M, Claassen D. A distinctive triad of malformations<br />
of the central nervous system in the Meckel-Gruber syndrome.<br />
J Neuropathol Exp Neurol 1999;49:610–20.<br />
10. Nyberg DA, Hallesy D, Mahony BS, et al. Meckel-Gruber syndrome.<br />
Importance of prenatal diagnosis. J Ultrasound Med<br />
1990;9:691–6.<br />
11. Mittermayer C, Lee A, Brugger PC. Prenatal diagnosis of the<br />
Meckel-Gruber syndrome from 11th to 20th gestational week.<br />
Ultraschall Med 2004;25:275–9.<br />
Abstract. Meckel-Gruber syndrome: a case report.<br />
The authors report a case of antenatal ultrasound diagnosis of<br />
Meckel-Gruber syndrome in a 12-year-old pregnant girl. The first<br />
scan done at 32 weeks of gestation revealed a single fetus with<br />
microcephaly, large encephalocele in the occipital mid-line region,<br />
bilateral complete cleft lip, and cleft palate. The kidneys and their<br />
ecotexture were found to be enlarged, measuring about 12 cm in<br />
length, causing an important enlargement of the abdomen. The<br />
fetus’ genitals were not i<strong>de</strong>ntified, but a small cystic image was<br />
visualized in their topography. Due to the presence of oligohydramnios,<br />
a magnetic resonance was performed at 33 weeks of gestation,<br />
which confirmed the sonographic findings and <strong>de</strong>monstrated<br />
a lisencephaly. A premature rupture of membranes occurred at 34<br />
weeks of gestation, upon which a caeserian section was performed,<br />
the stillborn baby removed and subsequently taken for a necropsy.<br />
Polydactyly was the only anomaly present which was not i<strong>de</strong>ntified<br />
by the imaging methods used.<br />
Keywords: Meckel-Gruber syndrome; Ultrasound; Magnetic resonance<br />
imaging; Fetal malformation; Lisencephaly.<br />
Rev Imagem 2007;29(1):9–12