A Deaf Child with Hypoparathyroidism: A Case Report
Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism. Case Report The patient was a 6.5 year-old boy whose hearing impairment had been det...
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Qom University of Medical Sciences
2010-04-01
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doaj-ec8bb06b8cae4d06a022c49044c12bfe2021-03-27T08:49:50ZfasQom University of Medical SciencesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum1735-77992008-13752010-04-01414853A Deaf Child with Hypoparathyroidism: A Case ReportR Fallah0A Shajari1 Shahid Sadoughi University of Medical Sciences Shahid Sadoughi University of Medical Sciences Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism. Case Report The patient was a 6.5 year-old boy whose hearing impairment had been detected in infancy and cochlear implant had been done at 3.5 years of age. He had no problem until one week before admission, when he faced carpopedal spasm and eyes-staring, and he was then admitted to the hospital due to his status of epilepticus. Brain CT scan showed calcifications in frontal lobe and basal ganglia. Hypocalcemia , hyperphosphatemia and low parathyroid hormone level were detected in laboratory data. Kidney sonography was normal. Concerning negative family history and normal kidneys, autosomal recessive form of disease without renal involvement or new mutation might be suggested in this patient; therefore, in deaf patients, hypoparathyroidism would be taken into account .http://journal.muq.ac.ir/article-1-514-en.htmlseizureshypocalcemiahypoparathyroidismdeafness |
collection |
DOAJ |
language |
fas |
format |
Article |
sources |
DOAJ |
author |
R Fallah A Shajari |
spellingShingle |
R Fallah A Shajari A Deaf Child with Hypoparathyroidism: A Case Report Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum seizures hypocalcemia hypoparathyroidism deafness |
author_facet |
R Fallah A Shajari |
author_sort |
R Fallah |
title |
A Deaf Child with Hypoparathyroidism: A Case Report |
title_short |
A Deaf Child with Hypoparathyroidism: A Case Report |
title_full |
A Deaf Child with Hypoparathyroidism: A Case Report |
title_fullStr |
A Deaf Child with Hypoparathyroidism: A Case Report |
title_full_unstemmed |
A Deaf Child with Hypoparathyroidism: A Case Report |
title_sort |
deaf child with hypoparathyroidism: a case report |
publisher |
Qom University of Medical Sciences |
series |
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum |
issn |
1735-7799 2008-1375 |
publishDate |
2010-04-01 |
description |
Background and Objectives: HDR (hypoparathyroidism, deafness and renal dysplasia) is an autosomal dominant syndrome due to mutation in the glutamyl aminotransferase. We report a deaf child with hypoparathyroidism.
Case Report
The patient was a 6.5 year-old boy whose hearing impairment had been detected in infancy and cochlear implant had been done at 3.5 years of age. He had no problem until one week before admission, when he faced carpopedal spasm and eyes-staring, and he was then admitted to the hospital due to his status of epilepticus.
Brain CT scan showed calcifications in frontal lobe and basal ganglia. Hypocalcemia , hyperphosphatemia and low parathyroid hormone level were detected in laboratory data. Kidney sonography was normal. Concerning negative family history and normal kidneys, autosomal recessive form of disease without renal involvement or new mutation might be suggested in this patient; therefore, in deaf patients, hypoparathyroidism would be taken into account . |
topic |
seizures hypocalcemia hypoparathyroidism deafness |
url |
http://journal.muq.ac.ir/article-1-514-en.html |
work_keys_str_mv |
AT rfallah adeafchildwithhypoparathyroidismacasereport AT ashajari adeafchildwithhypoparathyroidismacasereport AT rfallah deafchildwithhypoparathyroidismacasereport AT ashajari deafchildwithhypoparathyroidismacasereport |
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