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A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.

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.

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Guillén-Navarro E,Wallerstein R,Moran E,Chu ML,Grant A

doi

10.1016/s0303-8467(97)00123-6

subject

Has Abstract

pub_date

1998-03-01 00:00:00

pages

64-7

issue

1

eissn

0303-8467

issn

1872-6968

pii

S0303846797001236

journal_volume

100

pub_type

杂志文章

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