Unusual presentation of biliary atresia splenic malformation syndrome with autosomal dominant hypospadias.

Biliary atresia is associated with polysplenia in 2-10% of cases and is defined as Biliary Atresia Splenic Malformation syndrome (BASM). The main features of BASM syndrome include extrahepatic biliary atresia and polysplenia besides the characteristic findings of laterality anomalies, cardiac anomalies, intraabdominal vascular anomalies, pancreatic anomalies and malrotation. Here we present a 6-month-old male patient with BASM having atrial septal defect, umblical hernia, inguinal hernia, and hypospadias. Clinical history revealed that his father also had hypospadias which showed a rare form of autosomal dominant inheritance. The karyotype was normal and the molecular analysis of CFC1 gene revealed no mutation. We emphasize the importance of a detailed physical examination in cases with BASM.

An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.