Oculocraniosomatic neuromuscular disease with hypoparathyroidism
M. Toppet, N. Telerman-Toppet, H. B. Szliwowski, M. Vainsel and C. Coers
During a six-year period, an adolescent girl developed a polyglandular
disease characterized by hypoparathyroidism, chemical diabetes, growth
failure and pubertal delay, hypercholesterolemia, and hypomagnesemia. A
slowly progressive neurological disorder occurred simultaneously,
consisting of progressive external ophthalmoplegia, mitochondrial myopathy,
ataxia, neural deafness, mental subnormality, atypical retinitis, corneal
dystrophy, cataract, and increased protein level in the cerebrospinal
fluid. An intracardiac conduction defect was also found. This disorder, the
cause of which is uncertain, is termed oculocraniosomatic disease. Our
patient is apparently unique in that there was an associated
hypoparathyroidism.
