Seizure as a presenting manifestation of vitamin D dependent rickets type 1 P. Radha Rani, Rushikesh Maheshwari, N. Rajendra Prasad, T. S. Karthik Reddy, P. Amaresh Reddy Department of Endocrinology and Metabolism, Narayana Medical College and Hospital, Nellore, Andhra Pradesh, India
A B S T R A C T There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. VDDR type 1 (VDDR‑I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH) 2D) by the enzyme 1‑α‑hydroxylase. Patients with VDDR‑I have mutations of chromosome 12 that affect the gene for the enzyme 1‑α‑hydroxylase, resulting in decreased levels of 1,25(OH) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontanels and pathologic fractures. We report a case of VDDR‑I in 14‑month‑old male child. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets is the most common variety of the disease where genetic diagnosis is not always possible because of financial constraints. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention. Key words: Vitamin D dependent rickets type I, seizure, 1,25(OH) vitamin D
Introduction Rickets is still a common health problem and is considered to be a challenge even in developed countries. Epidemiological data are not available in many countries, etiology is sometimes difficult to establish and vitamin D supplementation and rickets treatment have been debated for a long time.
Case Report A child aged 10 months old was admitted in pediatric emergency department with focal seizures with secondary generalization. The child has, delay in motor developmental mile stones and hypotonia and poor gain Access this article online Quick Response Code: Website: www.ijem.in DOI: 10.4103/2230-8210.123562
in height. He had widening of wrist, potbelly, Harrison sulcus and rachitic rosary. Biochemical and radiologic signs were suggestive for rickets. Biochemical profile showing low serum calcium‑6.1 mg/dl (9.2‑11 mg/dl), low phosphorus‑3.9 mg/dl (3.4‑6.2 mg/dl), elevated alkaline phosphatase‑4116 U/L (