Open AccessVitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report.
Author(s) -
Divya Vupperla,
Snehal Balvant Lunge,
Praveen Elaprolu
Publication year - 2018
Publication title -
doaj (doaj: directory of open access journals)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
DOI - 10.4103/ijd.ijd_434_17
Subject(s) - medicine , rickets , vitamin d and neurology , scalp , alkaline phosphatase , vitamin , calcium , endocrinology , hair loss , dermatology , biochemistry , enzyme , chemistry
Vitamin D-dependent rickets type II is a rare hereditary disorder. It occurs due to mutations in the gene chr. 12q12-q14, which codes for vitamin D receptor. End-organ resistance to 1,25-(OH) 2 vitamin D3 and alopecia in severe cases are the characteristic features. We report a case of a 4-year-old boy with loss of hair over the scalp and body - first observed after 1 month of birth. The boy also developed difficulty in walking at the age of 2 year. On analysis, reduced serum calcium level (7.5 mg/dL) and elevated alkaline phosphatase level (625 IU/L) were reported. Initially, the treatment included intramuscularly administered single dose of 600,000 IU vitamin D, followed by 400 IU of vitamin D along with 1 g of supplemental calcium every day. Periodic follow-up was conducted for 2 months. Improvement was observed in the biochemical parameters and X-rays of the distal radial and ulnar metaphyses, although no improvement was observed in alopecia.