Late onset Fabry's disease

Nance et al. Later onset Fabry disease. An adult variant presenting with cramp-fasciculation syndrome. Arch Neurol 2006; 63:453-457.

Fabry disease is an X linked recessively inherited disease due to deficient/absent lysosomal alpha galactosidase and accumulation of globotriaosylceramide (GL-3) and glycososphingolipids in plasma and cellular lysosomes. Classically, male onset occurs in childhood with episodic painful burning sensations in the hands and feets (acroparesthesias), typical skin lesions (angiokeratomas), hypohydrosis, and corneal opacities. Later, patients develop CRF, cardiac valvular disease and strokes, and die by 50s.

Late onset variants typically have renal or cardiac disease without typical neurologic stigmata in sixth decade or later.

Case report is of 34 year old man with activity induced cramps and fasciculations. Nerve biopsy, and pan MRI were negative. Mother had similar syndrome, with painful walking, and had a stroke at 37. Patient's alpha Gal A was deficient, leading to diagnosis.

Other features
Dolichoectasia of cerebral vessels
TIA
Vertigo
Hearing loss
Tinnitus
Cognitive disorders
Small fiber neuropathy
Painful acroparesthesias
Hypohidrosis
Impaired temperature sensation
Intestinal dysmotility
Cardiomyopathy
Cardiac conduction abnormality
Renal failure
Angiokeratomas
Corneal dystrophy
Feathery opacities