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Contents : Arq Neuropsiquiatr 2001 59(3-B):790-792 HEREDITARY SPASTIC PARAPLEGIA ASSOCIATED WITH THIN CORPUS CALLOSUM H lio A. Ghizoni Teive1 .abio Massaiti Iwamoto2 Marcus Vin cius Della Coletta2 Carlos Henrique Camargo2 Ruth Danielle Bezerra2 Guilberto Minguetti3 Lineu Cesar Werneck4 ABSTRACT - Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life spastic paraparesis and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. .urther studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries. KEY WORDS: hereditary spastic paraplegia corpus callosum MRI. Paraplegia esp stica heredit ria associada a hipoplasia de corpo caloso RESUMO - A paraplegia esp stica heredit ria autoss mica recessiva (PEH-AR) associada com hipoplasia de corpo caloso foi inicialmente descrita no Jap o. Estudos de liga o gen tica mostram que a maioria das fam lias est o relacionadas ao cromossomo 15q13-15. Relatamos dois pacientes de fam lias brasileiras n o relacionadas com dist rbio de marcha com in cio na segunda d cada de vida paraparesia esp stica e comprometimento das fun es cognitivas. Um dos pacientes apresentava ataxia cerebelar. A resson ncia magn tica de enc falo de ambos os pacientes mostrou hipoplasia de corpo caloso. PEH-AR associada com hipoplasia de corpo caloso uma condi o rara descrita principalmente em pacientes do Jap o. Encontramos apenas 4 fam lias caucasianas com PEH-AR e hipoplasia de corpo caloso. Mais estudos com fam lias caucasianas s o necess rios para delinear o perfil gen tico dessa s ndrome em pa ses ocidentais. PALAVRAS-CHAVE: paraplegia esp stica heredit ria corpo caloso resson ncia magn tica. Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic neurodegenerative disorders characterized by progressive spasticity of the lower limbs. In 1981 Harding1 suggested clinical criteria for classifying HSP into pure and complicated forms. Pure HSP patients present with family history progressive gait disturbance spasticity of lower limbs hiperreflexia and extensor plantar responses. In complicated HSP the spastic paraparesis is only one feature of a much more complex phenotype. Complicated HSP has been associated with many conditions including mental retardation or deterioration optic atrophy retinopathy extrapyramidal disease amyotrophy ataxia and cerebellar signs deafness icthyosis and peripheral neuropathy2. HSP is also geneti- cally heterogeneous and autosomal dominant autosomal recessive and X-linked mode of inheritance have been described2. Recently a new form of complicated autosomal recessive HSP (AR-HSP) associated with thin corpus callosum was described in Japan3 4. Because few cases were reported in Caucasian population herein we present two patients from two different families with HSP and thin corpus callosum. CASES Patient 1. A 18-year-old Caucasian girl presented a 4year history of frequent falls gait disturbance progressive muscular weakness and pain in the lower limbs. She had normal achievement of motor milestones. There was Division of Neurology Hospital de Cl nicas of the .ederal University of Paran (U.PR) Curitiba PR Brazil: 1Assistant Professor 2Resident in Neurology 3Associate Professor 4Professor of Neurology and Chief. Received 5 .ebruary 2001 received in final form 30 April 2001. Accepted 10 May 2001. Dr. H lio Teive - Servi o de Neurologia Hospital de Clinicas U.PR Rua General Carneiro 181 - 80069-900 Curitiba PR - Brasil. .AX: 55 41 2643606. E-mail: hagteive@mps.com.br Arq Neuropsiquiatr 2001 59(3-B) 791 .ig 1. Sagital MRI of head T2-weighted image showing a dysgenesis of corpus callosum (thin corpus callosus) (Patient 1). no family history and her parents were unrelated. General physical examination was normal. On neurological examination she presented mild dysarthria muscular strength in the lower limbs grade IV/V (Medical Research Council) spasticity in the lower limbs patellar and ankle deep tendon reflexes grade +++/IV left extensor cutaneous plantar response and spastic gait. Sensation and coordination was normal. Ophthalmological examination was normal. Complete blood count glucose electrolytes thyroid function tests serum vitamin B12 and cerebrospinal fluid analysis were normal. Serum HTLV-1 antib

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