A NEW FORM OF COMPLICATED HEREDITARY SPASTIC PARAPLEGIA WITH CATARACTS, ATRETIC EAR CANALS AND HYPOPIGMENTATION

A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spastic ity and atrophy starting at 4 years of age, atretic ear canals with he aring dysfunction and diffuse patchy cutaneous hypopigmented areas. Cl inical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensa tion, autonomic and cerebellar functions were not disturbed. Neuroimag ing studies were normal. Laboratory findings did not support a diagnos is of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmi tted presumably in an autosomal recessive pattern. (C) 1998 Elsevier S cience B.V. All rights reserved.