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From the Neurogenetics Clinic (Drs. Straussberg and Basel) and Departments of Pediatrics C (Drs. Straussberg, Harel, and Amir), Neurology (Drs. Straussberg and Weitz), and Radiology (Dr. Kornreich), Schneider Children’s Medical Center of Israel, Petah Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv; Department of Child Neurology (Dr. Shorer), Soroka Medical Center, Ben Gurion University, The Negev, Beer Sheba; and Departments of Pathology (Dr. Coire) and Neurology (Dr. Djaldetti), Rabin Medical Center, Beilinson Campus, Petah Tikva and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Address correspondence and reprint requests to Dr. Rachel Straussberg, Neurogenetic Clinic, Department of Neurology, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel 49202; e-mail: rachelst{at}post.tau.ac.il
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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