An 11-year-old boy showing rapid psychomotor regression and diffuse cerebral white matter lesions.

摘要

A male patient was born at term to healthy parents with normal delivery after an uneventful pregnancy. There was no family history of neuromuscular disorders. His development was normal in early infancy: he showed social smiling at 5 months of age, recognition of his mother at 6 months and head control at 7 months. However, he could neither roll over nor utter meaningful words. He developed mild psy-chomotor developmental delay and myoclonic seizures in his legs around the age of 12 months. Clinical examination showed frontal bossing (head circumference, 48 cm), scolio-sis, hepatosplenomegaly, poor head control, visual disturbance, bulbar palsy, hypotonia and brisk deep tendon reflex. He was admitted to our center at the age of 19 months. He lost voluntary eye tracking and reactions to environmental stimuli, and required tube feeding to avoid aspiration pneumonia. He developed severe motor disabilities and became bedridden. The lesions of the bilateral thalamus were hypodense on CT scan and T2-hyperintense on MRI, as reported previously. The cerebral white matter gradually showed T1 low and T2 high-signal changes on MRI (Fig. 1A). Since he had recurrent episodes of aspiration pneumonia and suffered from subsequent cardiopulmonary arrest, he received continuous mechanical ventilation after the age of 4 years. Recurrent urinary tract infection occurred and he died of acute renal failure at the age of 11 years.