Symmetrical infantile thalamic degeneration in two sibs
AUTOR(ES)
Abuelo, Dianne N
RESUMO
This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048791Documentos Relacionados
- Thalamic degeneration induced by temporal lesions in the cat
- Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice
- Orofaciodigital syndrome type III in two sibs.
- Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.
- Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.