Progressive ataxia, retinal degeneration, neuromyopathy, and mental subnormality in a patient with true hypoparathyroidism, dwarfism, malabsorption, and cholelithiasis

A 25-year-old woman of short stature and low intelligence had pigmentary retinal degeneration, primary hypoparathyroidism, and hepatosplenomegaly. Obstructive jaundice due to cholelithiasis had been surgically treated at age 28 months. Dietary and vitamin D therapy had controlled the hypocalcemia after age 5 years. Progressive muscle weakness, ataxia, and postural dizziness appeared after age 19 years. Electromyography showed evidence of peripheral neuropathy and myopathy. Examination of the sural nerve indicated a mild axonal neuropathy. Muscle biopsy indicated reinnervation of muscle fibers. In addition, abundant inclusions (diastase-fast, PAS-positive, Nile blue sulfatepositive, sudanophilic, and acid-fast) were found in the fibers. On electron microscopy these were membrane-bound and positive for acid phosphatase and thus were considered secondary lysosomes. The syndrome is compared to other possibly related neurodegenerative disorders.