Agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21.

摘要

We report an 18-month-old boy with trisomy 21 (Fig. 1), partial agenesis of the corpus callosum, a left posterior dorsa! interhemispheric cyst and a hepatic haemangioma. He was born weighing 4.35 kg (> 98th centile) at 39 weeks of gestation to a non-consanguineous couple. The mother took amoxycillin for a urinary tract infection at 16 weeks. Polyhydramnios was noted at 24 weeks of gestation. At birth, the patient was noted to have a 6 cm hepatomegaly and his occipitofrontal head circumference (OFHC) measured 42 cm (3 cm > 98th centile). A mass was noted protruding from the occipitoparietal region. Neurological examination noted irritabilty and hypotonia. He was alert, however, fed well and there were symmetrical movements of all four limbs. Progressive enlargement of the head (OFHC 42-48 cm) was observed and a ventriuloperitoneal shunt was inserted at 6 weeks of age. Skin and ophthalmological examination was normal. Despite the grim prognosis given to his parents in the neonatal period, our patient hashad an excellent outcome. When last examined at 16 months of age, growth parameters were on the 50th centile and development appropriate for a child with Down's syndrome. Apart from regular monitoring of his ventriuloperitoneal shunt there have been no acute health concerns.