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An X-linked Phakomatosis Associated With Central and Peripheral Nervous System Dysfunction

Arch Neurol. 1999;56:487.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

A 44-YEAR-OLD man, whose case history has been previously published,¹ presented with a history of "knife-like, stabbing" pains in all 4 limbs since childhood. His parents also noted a persistent, nonpruritic rash of punctate pigmented lesions on his groin and abdomen in a "bathing trunk" distribution (Figure 1). Three maternal uncles with a similar rash had died of an undiagnosed kidney disease. When the patient was examined, he was noted to have spoke-like cataracts that did not require surgery. He later developed asymptomatic, subnephrotic proteinuria. Fifteen years later, he sought medical care for syncopal episodes attributed to dysautonomia. Serologic analysis revealed an -galactosidase level less than 5% of normal. Skin biopsy specimens demonstrated "zebra bodies" from the accumulation of -galactosidase A that is characteristic of Fabry disease.²

Figure appears in full text version. Depiction of the bluish-purple, macular rash in the "bathing trunk" distribution typical of Fabry disease.

The triad of spoke-like cataracts, renal . . . [Full Text of this Article]