PubMed · 1019142
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F J Ayd. 1976. Haloperidol update: 1975.. https://pubmed.ncbi.nlm.nih.gov/1019142/
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BACKGROUND: Infantile bilateral striatal necrosis (IBSN) encompasses several syndromes of bilateral symmetric, spongy degeneration of the caudate nucleus, putamen, and globus pallidus. The familial form of IBSN is rare, and inheritance is either autosomal recessive or maternal. METHOD: The authors describe an Israeli Bedouin kindred in which 15 children born to consanguineous parents were affected with familial IBSN. They evaluated the clinical and radiologic evolution of the disease in 11 patients and the cerebral pathologic findings in one patient. Three of the children were treated with oral biotin 100 mg/day. RESULTS: Inheritance was apparently autosomal recessive. The untreated children had a similar clinical picture including developmental arrest beginning at the age of 7 to 15 months, choreoathetosis, and dysphagia. Pendular nystagmus appeared at a late stage. MRI, performed at various stages of the disease, showed severe basal ganglia atrophy. Postmortem study in one patient showed severe atrophy of the lenticular nuclei with gliosis and loss of neurons. Biotin, 100 mg/day, administered to the proband over a period of 15 months, may have slowed progression. In two other children treatment was initiated earlier and appeared to arrest or improve disease. CONCLUSIONS: Familial infantile bilateral striatal necrosis was inherited as an autosomal recessive trait. Clinical features included developmental arrest, dysphagia, and choreoathetosis. Imaging and pathology showed atrophy and degeneration of the basal ganglia. Oral biotin may have benefited three children.
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A male baby born at term via an uncomplicated vaginal delivery was presented on the fourth day of life with jaundice, accompanied by neurological symptoms related to kernicterus. Despite extensive investigations, a clear cause for his hyperbilirubinaemia could not be found. After 10 days of intensive care he was left with deafness and a severe extrapyramidal motor disturbance. Recently revised practice guidelines suggest a less aggressive approach for the treatment of jaundice with phototherapy or exchange transfusion in newborns. However, in the presence of factors for kernicterus, early and, if necessary, frequent measurement of the serum bilirubin concentration remains important to prevent serious and life-long complications.