Oculocraniosomatic Neuromuscular Disease With Hypoparathyroidism

Abstract

\s=b\ 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.

Phenotypical heterogeneity of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes in a patient with recurrent movement disorder

“…They also reported that the calcifications were symmetric, progressive, most commonly involved the globus pallidus, and were not observed in the dentate nucleus (4). Fahr disease and hypoparathyroidism are important and frequent causes of BG calcification and may occur in association with mitochondrial diseases (5). Deep GM calcifications in our patient had the same radiological distribution as in normal aging or Fahr disease.…”

Neuroradiological features of six kindreds with MELAS tRNALeu A3243G point mutation: implications for pathogenesis

“…It also affected other areas such as the caudate, putamen, thalamus, and internal capsule, but unlike previous studies,13 was not seen in the dentate nucleus. Hypoparathyroidism, an important cause of basal ganglia calcification16 and one which may occur in association with mitochondrial disorders,17 was not present in any of the patients in this study.…”

Endocrine dysfunction in Kearns‐Sayre syndrome

“…Hypomagnesaemia has been found in patients with (Toppet et al, 1977;Horwitz & Roessmann, 1978;Dewhurst et al, 1986, and present case) and without hypoparathyroidism (Simopoulos et al, 1971;Goto et al, 1990). In another example KSS presented with carpopedal spasm due to hypomagnesaemia in the presence of a normal serum calcium (Rheuban et al, 1983).…”

“…Chronic hypokalaemia was also found in four of the hypoparathyroid patients (Joannard et al, 1977;Coulter & Allen, 1981;Allen et al, 1983;Toppet et al, 1977). Aldosterone excretion was not raised in the cases reported by Joannard et al (1977) and Toppet et al (1977). Goodhue found agenesis of the right adrenal with nodular cortical hyperplasia on the left.…”

“…Widespread teeth with overbite and unilateral hypoplastic facial bones occurred in one of the hypoparathyroid cases (Wray & Richardson, 1987). Nail moniliasis (Horwitz & Roessmann, 1978) and striated nails (Toppet et al, 1977) also occurred in hypoparathyroid patients.…”