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Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

DOI: 10.1186/1752-1947-6-17

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A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL), low ionized calcium (2.3 mg/dL), raised serum phosphate (7.2 mg/dL), raised alkaline phosphatase (118 U/L) and low intact parathyroid hormone (1.2 pg/mL) levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia.Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.Progeria is a rare combination of dwarfism and premature aging characterized by thin, atrophic shiny skin with sclerodermoid changes, sparse to absent hair of the scalp, eyebrows and eyelashes, craniofacial disproportion, a sculpted beaked nose, short stature, a pyriform thorax, thin limbs and musculoskeletal and cardiovascular manifestations [1]. The classic form is known as Hutchinson-Gilford syndrome. It occurs sporadically, with a reported incidence of one in eight million births and male predominance with male to female ratio of 1.5:1 [2]. Hypoparathyroidism is an inherited or acquired deficiency of the parathyroid hormone (PTH) or its action [3]. Hypoparathyroidism occurs in all age groups. The classic clinica

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