The clinical and radiological evolution of familial infantile bilateral striatal necrosis (IBSN) was evaluated in 11 of 15 affected children born to consanguineous Israeli Bedouin parents and reported from the Schneider Children’s Medical Center, Petah Tikva and Sackler School of Medicine, Tel Aviv University, and other centers in Israel. Three were treated with oral biotin 100 mg/day. Inheritance was autosomal recessive. Untreated children showed signs of developmental arrest with onset at age 7 to 15 months, choreoathetosis and dysphagia, and a later onset of pendular nystagmus. MRI showed severe basal ganglia atrophy. Postmortem findings in one patient showed severe atrophy of lenticular nuclei with gliosis and neuronal loss. Biotin therapy resulted in arrest or improvement of disease in 2 patients when administered early, and slowed progression in the proband with treatment over a 15 month period. 
COMMENT. Infantile bilateral striatal necrosis (IBSN) is a rare clinically heterogeneous syndrome characterized pathologically by symmetric spongy degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus. Clinical manifestations are developmental regression, choreoathetosis, dystonia, dysphagia, and mental retardation. Prognosis is usually poor with spastic quadriparesis and early morbidity. Reported cases have been described in 3 groups: 1) subacute necrotizing encephalomyelopathy (Leigh disease); 2) familial striatal degeneration with slow progression; and 3) abrupt neurologic onset following an acute systemic illness. The Israeli familial cases described above are in group 2, with poor prognosis. Biotin is worthy of trial and early treatment is recommended.