Delayed diagnosis in Vitamin D – dependent rickets type II results in severe skeletal deformities

Authors

  • Erum Sohail Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan
  • Tasnim Ahsan Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan
  • Rukhshanda Jabeen Department of Medicine, Jinnah Postgraduate Medical College, Karachi, Pakistan
  • Urooj Lal Rehman Department of Endocrinology, Jinnah Postgraduate Medical College, Karachi, Pakistan
  • Saima Ghaus Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi, Pakistan

DOI:

https://doi.org/10.47391/JPMA.5266

Abstract

Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP).

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Published

2022-11-15

How to Cite

Sohail, E., Ahsan, T., Jabeen, R. ., Rehman , U. L., & Ghaus, S. . (2022). Delayed diagnosis in Vitamin D – dependent rickets type II results in severe skeletal deformities. Journal of the Pakistan Medical Association, 72(12), 2528–2530. https://doi.org/10.47391/JPMA.5266

Issue

Section

CASE SERIES