The online version of this article (doi:10.1186/1752-1947-6-17) contains supplementary material, which is available to authorized users.
The authors declare that they have no competing interests.
KA and HS carried out the patient diagnosis, investigation, follow-up, management and the final manuscript writing. Both authors read and approved the final manuscript.
Hutchinson-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.
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.
Surjushe A, Thakre M, Vasani R, Dattatray Saple D: Hutchinson-Gilford syndrome (progeria). Indian J Dermatol. 2009, 54: S27-10.4103/0019-5154.45438. CrossRef
Girija AS: Idiopathic hypoparathyroidism with extensive intracranial calcification associated with kinesogenic choreoathetosis. J Assoc Physicians India. 2000, 48 (9): 938-939. PubMed
Hutchinson J: A case of congenital absence of hair with atrophic condition of the skin and its appendages. Lancet. 1886, 1: 923-
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS: Recurrent de novo point mutations in lamin: a cause Hutchinson-Gilford progeria syndrome. Nature. 2003, 423: 293-298. 10.1038/nature01629. CrossRefPubMed
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO, Gahl WA, Introne WJ: Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008, 358: 592-604. 10.1056/NEJMoa0706898. CrossRefPubMedPubMedCentral
- Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report
Kotb Abbass Metwalley Kalil
Hekma Saad Fargalley
- BioMed Central