The gene mutation causing autosomal recessive infantile bilateral striatal necrosis (IBSN) was identified in eight consanguineous Israeli Bedouin families, in a study at Schneider Children’s Medical Center, Petah Tikva, Israel, and other centers. The age of onset of the disease in the 12 affected individuals ranged from 7 to 15 months. Choreoathetoid movements of the face, trunk and extremities, dystonia, pendular nystagmus, optic atrophy, and spastic quadriparesis were associated with gradual disappearance of the basal ganglia on serial MRI scans. At 10 to 11 years old, the MRI showed a small, residual caudate nucleus and putamen with abnormal signals. Metabolic workup was normal. Sequencing of the nup62 gene showed a missense mutation in all patients mapped to the chromosomal region 19ql3.33. Five prenatal diagnoses were made in 3 at-risk families. The p62 protein is involved in the basal ganglia degeneration. [1]

COMMENT. Infantile bilateral striatal necrosis is characterized by degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus. Clinically, the disease presents with developmental regression, choreoathetosis, dystonia, spasticity, failure to thrive, nystagmus, optic atrophy, and mental retardation. Familial cases are described. In the above families, the gene mutation is mapped to chromosome 19ql3.33.