RESUMO

In modern medicine, prenatal diagnosis can no longer be sufficient by ultrasound examination. The genetic technical progress and its contribution may remain a challenge in isolated sites with the consequences that this implies in perinatal health.

RESUMO

En el Hospital José María Velasco Ibarra de la ciudad del Tena, provincia de Napo, en la República de Ecuador, se reportó el caso de un neonato con Síndrome de Meckel Gruber, de sexo femenino, fruto de un embarazo sin seguimiento prenatal, hijo de padres indígenas no consanguíneos, provenientes de la comunidad amazónica Tamiahurco ubicada en Misahuallí. En este recién nacido se presentó la triada diagnóstica al respecto: riñones hiperplásicos poliquísticos, encefalocele occipital y polidactilia postaxial bilateral, determina el diagnóstico de certeza de esta enfermedad, en la que al menos dos de estos elementos deben estar presentes. Además, puede cursar con malformaciones a nivel oral, genital, del Sistema Nervioso Central (SNC) y fibrosis hepática(AU)

At José María Velasco Ibarra Hospital in Tena, Napo province, in the Republic of Ecuador, the case of a female neonate with Meckel Gruber Syndrome is reported. This infant is the result of a pregnancy with no prenatal follow-up, non-consanguineous indigenous parents, from the Tamiahurco Amazon community, in Misahuallí. This newborn had the diagnostic triad of polycystic hyperplastic kidneys, occipital encephalocele and bilateral postaxial polydactyly, which determined this disease diagnosis of certainty, in which at least two of these elements must be present. Other symptoms are oral, genital malformations, hepatic fibrosis and malformations of the Central Nervous System (CNS)(AU)

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RESUMO

OBJECTIVE: To describe the sonographic features of fetal cephalocele diagnosed at the time of first-trimester ultrasound screening for aneuploidy. METHODS: This was a retrospective review of cases of cephalocele diagnosed in the first trimester at four fetal medicine referral centers. Once diagnosis was suspected, a transvaginal ultrasound examination was offered to improve depiction of the cranial defect and enhance examination of fetal anatomy, with special attention given to the location, size and content of defects. To assure consistency in diagnosis, representative pictures and videoclip sequences of the cranial defect were obtained and reviewed by at least two authors. Cases were classified and compared with the assessment made at diagnosis. RESULTS: Of the 35 affected fetuses identified, 33 were of a singleton pregnancy and two were of twin pregnancies in which the other fetus was unaffected. The lesion was classified as a cranial meningocele in 13 (37%) cases and as an encephalocele in 22 (63%). The bone defect was occipital in 27 (77%), frontal in three (9%), parietal in three (9%) and non-classifiable in two (6%). Twelve (34%) were considered as small in size, 11 (31%) as medium and 12 (34%) as large. There were no reported cases of aneuploidy; however, four (11%) cases were associated with Meckel-Gruber syndrome, two (6%) with a disruptive syndrome and one (3%) with skeletal dysplasia. Eight (23%) pregnancies were lost to follow-up. Parents opted for termination of pregnancy in 21 of the 27 remaining cases and, of the six ongoing pregnancies, four patients miscarried or the fetus died in utero during the second trimester, one liveborn infant died shortly after delivery and one underwent neonatal surgery for an isolated cranial meningocele and is currently doing well. CONCLUSIONS: First-trimester sonographic diagnosis of cephalocele is accomplished easily with a detailed examination of the skull contour at the time of routine assessment of the axial and sagittal views of the head for measurement of the biparietal diameter and nuchal translucency, respectively. However, the sonographic features are highly variable. A significant proportion of cases are associated with genetic or disruptive syndromes. Prenatal diagnosis of cephalocele in the first trimester was associated with a high rate of termination of pregnancy and early intrauterine fetal demise. Only one fetus in this series survived and is neurologically intact; therefore, the prognosis of this condition remains poor.

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RESUMO

Os autores relatam um caso de diagnóstico pré-natal de síndrome de Meckel-Gruber em gestante de 12 anos de idade. A primeira ultra-sonografia, realizada na 32ª semana, identificou feto único portador de microcefalia, volumosa encefalocele na linha média da região occipital, lábio leporino completo bilateral e fenda palatina. Os rins encontravam-se de dimensões e ecotextura aumentadas, medindo cerca de 12 cm de comprimento, levando a importante aumento do volume abdominal. A genitália fetal não foi identificada, sendo visualizada pequena imagem cística na sua topografia.Em função da presença de oligodramnia, foi realizada ressonância magnética na 33ª semana, que confirmou os achados ultra-sonográficos e demonstrou uma lisencefalia. Na 34ª semana, a gestação evoluiu com amniorrexe prematura, sendo realizada cesariana, com retirada de natimorto, posteriormente encaminhado à necropsia. Polidactilia foi a única alteração presente não-identificada pelos métodos de imagem.

The authors report a case of antenatal ultrasound diagnosis of Meckel-Gruber syndrome in a 12-year-old pregnant girl. The first scan done at 32 weeks of gestation revealed a single fetus withmicrocephaly, large encephalocele in the occipital mid-line region, bilateral complete cleft lip, and cleft palate. The kidneys and their ecotexture were found to be enlarged, measuring about 12 cm in length, causing an important enlargement of the abdomen. The fetus' genitals were not identified, but a small cystic image was visualized in their topography. Due to the presence of oligohydramnios, a magnetic resonance was performed at 33 weeks of gestation,which confirmed the sonographic findings and demonstrated a lisencephaly. A premature rupture of membranes occurred at 34 weeks of gestation, upon which a caeserian section was performed, the stillborn baby removed and subsequently taken for a necropsy. Polydactyly was the only anomaly present which was not identified by the imaging methods used.

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