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Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel trmp6 gene mutation
Joint Authors
al-Harbi, Hanan A.
Habib, Abd al-Hadi M.
Schlingmann, Karl P.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 23, Issue 5 (31 Oct. 2012), pp.1038-1042, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2012-10-31
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Topics
Abstract EN
Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the Transient Receptor Potential Melastatin 6 (TRMP6) gene.
Patients usually present during early infancy with symptomatic hypocalcemia ; however, intracranial calcification has not been previously reported in HSH.
We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets.
However, further biochemical analysis of blood and urine were suggestive of HSH.
This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRMP6 gene.
A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC).
Her serum calcium and the BGC improved with magnesium replacement.
BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents.
American Psychological Association (APA)
Habib, Abd al-Hadi M.& al-Harbi, Hanan A.& Schlingmann, Karl P.. 2012. Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel trmp6 gene mutation. Saudi Journal of Kidney Diseases and Transplantation،Vol. 23, no. 5, pp.1038-1042.
https://search.emarefa.net/detail/BIM-311805
Modern Language Association (MLA)
Habib, Abd al-Hadi M.…[et al.]. Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel trmp6 gene mutation. Saudi Journal of Kidney Diseases and Transplantation Vol. 23, no. 5 (Oct. 2012), pp.1038-1042.
https://search.emarefa.net/detail/BIM-311805
American Medical Association (AMA)
Habib, Abd al-Hadi M.& al-Harbi, Hanan A.& Schlingmann, Karl P.. Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel trmp6 gene mutation. Saudi Journal of Kidney Diseases and Transplantation. 2012. Vol. 23, no. 5, pp.1038-1042.
https://search.emarefa.net/detail/BIM-311805
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 1041-1042
Record ID
BIM-311805