title: 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.
authors.affiliation: Human Genetics Program, New York University Medical Center, NY 10016, USA.
authors.forename: E
authors.initials: E
authors.lastname: Guillén-Navarro
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: E
authors.initials: E
authors.lastname: Moran
authors.forename: M L
authors.initials: ML
authors.lastname: Chu
authors.forename: A
authors.initials: A
authors.lastname: Grant
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000209:etiology* / Q000473:pathology; D003241:Consanguinity; D003638:Deafness; D004424:Ear Canal / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D017496:Hypopigmentation / Q000209:etiology*; D008297:Male; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000235:genetics