Familial Isolated Hypoparathyroidism: Case Report with Serum PTHrP Examination.

Abstract

Abstract.We report a family with isolated hypoparathyroidism. The proband was a 24-year-old woman, who presented with paresthesia of both hands. She had a mild degree of extrapyramidal signs, such as rigidity and decrease in arm swinging.Laboratory examinations revealed low PTH levels, mild hypocalcemia and hyperphosphatemia in the proband, her father, a younger brother and a younger sister, whereas her mother had normal serum calcium, phosphorus and PTH levels. These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother.Serum PTH-related protein (PTHrP) levels were examined, and found to be slightly high only in the father of the proband.

Heredofamilial Brain Calcinosis Syndrome

“…22 Patients with BCS have been reported particularly in autosomal dominant familial isolated hypoparathyroidism. 23,[26][27][28][29][30] Head CT shows bilateral calcifications, mainly in the basal ganglia. Patients with bilateral calcifications in the cerebral white matter, thalamus, and cerebellum also have been reported.…”

“…23,[26][27][28]30 In some of these patients, extrapyramidal tract signs such as parkinsonism, chorea, and ataxia are present, along with mental retardation and seizures. 26,28,30 Linkage analysis of familial isolated hypoparathyroidism identified mutations in the CASR gene on chromosome 3q [29][30][31][32] and in the PTH gene on chromosome 11p 24,33,34 and at Xq26-q27. 25 AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE I: CHROMOSOME 21q22.3 (AIRE) (OMIM 240300) Autoimmune polyglandular syndrome (APS) type I (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) is a rare disorder, typically an autosomal recessive trait.…”