Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness
Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which w...
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2012-01-01
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Series: | Case Reports in Pediatrics |
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doaj-49d0d55d93aa43a09d5ea9f5e8a6e0282020-11-24T22:49:09ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/605053605053Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe DeafnessRink Nikki0Bitzan Martin1O'Gorman Gus2Nagel Mato3Torban Elena4Goodyer Paul5Pediatric Nephrology, The Montreal Children's Hospital, McGill University, Montreal, QC, H3H 1P3, CanadaPediatric Nephrology, The Montreal Children's Hospital, McGill University, Montreal, QC, H3H 1P3, CanadaPediatric Radiology, The Montreal Children's Hospital, McGill University, Montreal, QC, H3H 1P3, CanadaCenter for Nephrology and Metabolic Diseases, Albert-Schweitzer-Ring 32, 02943 Weisswasser, GermanyDepartment of Medicine, McGill University, Montreal, QC, H3G 1Y6, CanadaPediatric Nephrology, The Montreal Children's Hospital, McGill University, Montreal, QC, H3H 1P3, CanadaHereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which was initially misdiagnosed as autism. Genetic analysis showed compound heterozygous mutations with one known and one novel mutation of the ATP6V1B1 gene; cerebral magnetic resonance imaging (MRI) revealed bilateral enlargement of the endolymphatic sacs of the inner ear. With improved cooperation, audiometric testing showed that hearing loss was most profound on the right, where endolymphatic sac enlargement was greatest, demonstrating a clear link between the degree of deafness and the degree of inner ear abnormality. This case indicates the value of MRI for diagnosis of inner ear involvement in very young children with distal RTA. Although citrate therapy quickly corrects the acidosis and restores growth, early diagnosis of deafness is crucial so that hearing aids can be used to assist acquisition of speech and to provide enough auditory nerve stimulation to assure the affected infants remain candidates for cochlear implantation.http://dx.doi.org/10.1155/2012/605053 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rink Nikki Bitzan Martin O'Gorman Gus Nagel Mato Torban Elena Goodyer Paul |
spellingShingle |
Rink Nikki Bitzan Martin O'Gorman Gus Nagel Mato Torban Elena Goodyer Paul Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness Case Reports in Pediatrics |
author_facet |
Rink Nikki Bitzan Martin O'Gorman Gus Nagel Mato Torban Elena Goodyer Paul |
author_sort |
Rink Nikki |
title |
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness |
title_short |
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness |
title_full |
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness |
title_fullStr |
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness |
title_full_unstemmed |
Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness |
title_sort |
endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness |
publisher |
Hindawi Limited |
series |
Case Reports in Pediatrics |
issn |
2090-6803 2090-6811 |
publishDate |
2012-01-01 |
description |
Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which was initially misdiagnosed as autism. Genetic analysis showed compound heterozygous mutations with one known and one novel mutation of the ATP6V1B1 gene; cerebral magnetic resonance imaging (MRI) revealed bilateral enlargement of the endolymphatic sacs of the inner ear. With improved cooperation, audiometric testing showed that hearing loss was most profound on the right, where endolymphatic sac enlargement was greatest, demonstrating a clear link between the degree of deafness and the degree of inner ear abnormality. This case indicates the value of MRI for diagnosis of inner ear involvement in very young children with distal RTA. Although citrate therapy quickly corrects the acidosis and restores growth, early diagnosis of deafness is crucial so that hearing aids can be used to assist acquisition of speech and to provide enough auditory nerve stimulation to assure the affected infants remain candidates for cochlear implantation. |
url |
http://dx.doi.org/10.1155/2012/605053 |
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