A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.
Clin Neurol Neurosurg
; 100(1): 64-7, 1998 Mar.
Article
em En
| MEDLINE
| ID: mdl-9637210
ABSTRACT
A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Paraplegia Espástica Hereditária
/
Hipopigmentação
/
Consanguinidade
/
Genes Recessivos
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Clin Neurol Neurosurg
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos