Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
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.


METHODS
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.
Straussberg
R
R
Neurogenetics Clinic and Department of Pediatrics, Schneider Children's Medical Center of Israel, Petah Tivka. rachelst@post.tau.ac.il
Shorer
Z
Z
Weitz
R
R
Basel
L
L
Kornreich
L
L
Corie
C I
CI
Harel
L
L
Djaldetti
R
R
Amir
J
J
D001480:Basal Ganglia Diseases / Q000188:drug therapy / Q000235:genetics; D001710:Biotin / Q000494:pharmacology / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D003342:Corpus Striatum / Q000187:drug effects / Q000473:pathology*; D005260:Female; D007839:Functional Laterality; D005808:Genes, Recessive / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009336:Necrosis; D010375:Pedigree
D001710:Biotin