Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
Hereditary spastic paraplegia is composed of a heterogeneous group of neurodegenerative disorders and is classified as pure or complicated due to its clinical variability. Autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum is a rare form of complicated hereditary spastic paraplegia. In complicated hereditary spastic paraplegia, autosomal dominant, autosomal recessive, and X-linked modes of inheritance have been noted. The diagnostic criteria of autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum are inheritance consistent with autosomal recessive trait, slowly progressive spastic paraparesis and mental detoriation, hypoplasia of corpus callosum revealed by brain computerized tomography or magnetic resonance imaging, and exclusion of other disorders by magnetic resonance imaging of the spine and brain as well as other laboratory tests. In this report, the authors present the case of 3 affected siblings in a family from Turkey, whereas 1 child and the con-sanguineous parents were healthy. To the authors' knowledge, it is the first reported case of autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum from Turkey.
Gucuyener
Kivilcim
K
Department of Pediatric Neurology, Gazi University, Faculty of Medicine, Besevler, Ankara, Turkey.
Hirfanoglu
Tugba
T
Ok
Ikbal
I
Cansu
Ali
A
Serdaroglu
Ayse
A
D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D005192:Family Health; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology*; D014421:Turkey