Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation

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Abstract
A neurocutaneous syndrome is described in which spastic paraplegia, peroneal neuropathy and crural hypopigmentation are inherited in a dominant pattern. Spastic paraplegia becomes clinically apparent during adolescence or in childhood, and progresses slowly throughout the adult years with a variability in severity of expression. Peroneal neuropathy is documented clinically and by slowing on nerve conduction studies. Pattern-reversal visual-evoked potentials also yield a delayed response, but brainstem auditory-evoked potentials and somatosensory-evoked potentials in upper and lower extremities are normal. Crural hypopigmentation is present in each neurologically affected family member. Although the pattern may vary, a pretibial distribution predominates. The lower extremity abnormalities of the CNS and peripheral nervous system, and neural crest cell derivatives may share a common relationship, but the abnormal visual-evoked potentials suggest a more generalized involvement. This family may represent a transition form between familial spastic paraplegia and spinocerebellar degeneration.