title: Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.
abstract: Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.
authors.affiliation: Istituto di Neuropsichiatria Infantile, Università La Sapienza, Roma, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A M
authors.initials: AM
authors.lastname: De Negri
authors.forename: M
authors.initials: M
authors.lastname: Gallucci
authors.forename: B
authors.initials: B
authors.lastname: Garavaglia
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D003342:Corpus Striatum / Q000473:pathology*; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009336:Necrosis; D009460:Neurologic Examination; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology