HEREDITARY SPASTIC PARAPARESIS WITH DISTAL MUSCLE WASTING, MICROCEPHALY, MENTAL-RETARDATION, ARACHNODACTYLY AND TREMORS - NEW ENTITY

We present a consanguineous Pakistani family in which four patients (t wo males and two females) had a new Troyer-like phenotype. All four pa tients showed some marfanoid features (span more than height, arachnod actyly, high arched palate), and generalized hyper-reflexia. The two a ffected males and the younger female also had microcephaly and mental retardation. Features only present in the affected males included shor t stature, dysarthria, amyotrophy of the distal muscles, fasciculation s and tremor. The distal muscle wasting in the two affected brothers r eflected the presence of axonal neuropathy demonstrated both electroph ysiologically and by nerve biopsy. Although neither of the sisters had any degree of distal muscle wasting, both had reduced M-wave amplitud e of the tibial and peroneal nerves, bilaterally. The described phenot ype does not fit any of the recognized forms of hereditary spastic par aparesis with distal muscle wasting. The specific axonal neuropathy di fferentiates it from familial motor neuron disease with mental retarda tion. The reported phenotype represents a possible new Troyer-like syn drome similar to that described by Neuhauser (1976), but differs from it by the lack of major dysmorphic features. (C) 1997 Elsevier Science B.V.