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.
MeSH terms
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Adult
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Basal Ganglia Diseases / diagnosis
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Basal Ganglia Diseases / genetics*
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Basal Ganglia Diseases / physiopathology
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Child
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Consanguinity
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Corpus Striatum / pathology*
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Dystonia / diagnosis
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Dystonia / genetics*
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Dystonia / physiopathology
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Evoked Potentials, Visual / physiology
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Female
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Follow-Up Studies
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Genes, Recessive / genetics
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Humans
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Magnetic Resonance Imaging
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Male
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Necrosis
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Neurologic Examination
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Optic Atrophies, Hereditary / diagnosis
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Optic Atrophies, Hereditary / genetics*
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Optic Atrophies, Hereditary / physiopathology
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Tomography, X-Ray Computed
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Visual Acuity / physiology
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Visual Fields / physiology