Inheritance of the syndrome is suggested to be autosomal recessive. Electroencephalogram (EEG) was abnormal in four of five individuals studied. The brain computed tomography (CT) was abnormal in 9 of 10 individuals and the abnormalities included a small and thick vault, irregular margins of the ventricles, irregular density of the deep white matter, cerebral atrophy, and ventricular dilatation. We report on a Japanese boy with the syndrome and describe brain magnetic resonance imaging (MRI) abnormalities.
The patient was born to healthy, nonconsanguineous parents at 40 weeks of gestation after an uncomplicated pregnancy with a birth weight of 3,190 g, length 33.5 cm, and OFC of 33.5 cm. The mother was 29 years old and the father 30 years old at the patient's birth. Hypotonia and poor sucking were noted during the neonatal period. He underwent an emergency colostomy at age 6 days because of severe constipation, abdominal distention, and congenital megacolon. Histological findings of a rectal biopsy showed aganglionosis of the submucosal plexus in the wall and confirmed short segment Hirschsprung disease. At age 5 months, an endorectal pull-through operation was performed with closure of the colostomy. The patient was referred to us at age 15 months with an epileptic status. He had sparse scalp hair, a sloping forehead, sparse eyebrows, telecanthus, broad nasal bridge, large ears and pointed