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

Kotb Abbass Metwalley Kalil,Hekma Saad Fargalley

doi:10.1186/1752-1947-6-17

Abstract

IntroductionHutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism.Case presentationA 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.ConclusionRoutine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.

Highlights

Hutchinson-Gilford progeria syndrome is a rare genetic disorder
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
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

Summary

Introduction

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]. Apart from drug treatment for hypercholesterolemia, he was not receiving any other medication He was the second-born male child to consanguineous Egyptian parents, with the other sibling being normal. Was delivered at term by Caesarean delivery and cried immediately after birth He was apparently normal until two years of age. Investigations revealed that a hemogram, liver function tests, renal function tests, his lipid profile, fasting blood sugar, sodium, potassium and magnesium levels, blood gases, a urinary aminoacidogram, thyroid function tests, an electrocardiogram, an echocardiogram, an abdominal ultrasound, an electroencephalogram and a computerized tomography scan of his brain were all normal. A radiograph of his hands and feet revealed resorption of the terminal phalanges with osteoporosis 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 levels were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia

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Conclusion