Literature DB >> 25593852

Seizure as a presenting manifestation of vitamin D dependent rickets type 1.

Mahmood Dhahir Al-Mendalawi1.   

Abstract

Entities:  

Year:  2015        PMID: 25593852      PMCID: PMC4287770          DOI: 10.4103/2230-8210.131772

Source DB:  PubMed          Journal:  Indian J Endocrinol Metab        ISSN: 2230-9500


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Sir, With reference to the interesting case report by Rani et al.,[1] vitamin D dependent rickets type 1 (VDDR-I) has been increasingly reported in the Indian subcontinent.[2] Apart from the suggestive clinical picture of rickets, hypotonia, muscle weakness, growth failure, and hypocalcemic seizures in early infancy, certain characteristic laboratory features of increased serum concentrations of parathyroid hormone, and low or undetectable serum concentrations of 1,25-dihydroxyvitamin D (1,25(OH) 2D) despite normal or increased concentrations of 25-hydroxyvitamin D (25-OHD) in addition to genetic mutational studies, must be sought to confirm the diagnosis of VDDR-I.[34] I realize that such confirmation was not feasible in the studied patient by Rani et al.[1] in the view of financial constraints and lack of availability. It is wellknown that nutritional rickets is a major public health problem in many parts of the world, particularly developing countries. Even in the Indian context, it has been reported to be present in the majority of children in spite of the wide availability of sunlight.[5] I presume that Rani et al.,[1] through their case report, sent a sound message to pediatricians in developing countries with limited financial resources to consider therapeutic trial of 1 α calciferol in children with rickets who fail to respond to conventional doses of cholecalciferol combined with calcium supplements before referring them to pediatric endocrinologists to exclude hereditary-related rickets.
  5 in total

1.  Pseudovitamin D deficiency rickets--a report from the Indian subcontinent.

Authors:  A H Zargar; A Mithal; A I Wani; B A Laway; S R Masoodi; M I Bashir; M A Ganie
Journal:  Postgrad Med J       Date:  2000-06       Impact factor: 2.401

Review 2.  Genetic disorders and defects in vitamin d action.

Authors:  Peter J Malloy; David Feldman
Journal:  Endocrinol Metab Clin North Am       Date:  2010-06       Impact factor: 4.741

Review 3.  Vitamin D deficiency in childhood-a review of current guidelines on diagnosis and management.

Authors:  S Balasubramanian; K Dhanalakshmi; Sumanth Amperayani
Journal:  Indian Pediatr       Date:  2013-07       Impact factor: 1.411

4.  Vitamin D dependent rickets type I.

Authors:  Chan Jong Kim
Journal:  Korean J Pediatr       Date:  2011-02-28

5.  Seizure as a presenting manifestation of vitamin D dependent rickets type 1.

Authors:  P Radha Rani; Rushikesh Maheshwari; N Rajendra Prasad; T S Karthik Reddy; P Amaresh Reddy
Journal:  Indian J Endocrinol Metab       Date:  2013-12
  5 in total

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