Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness
| Autor: | Nagel Mato, Bitzan Martin, O'Gorman Gus, Goodyer Paul, Rink Nikki, Torban Elena |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Pathology
medicine.medical_specialty Hearing loss business.industry lcsh:RJ1-570 Case Report lcsh:Pediatrics General Medicine medicine.disease Compound heterozygosity Endolymphatic sac medicine.anatomical_structure Distal renal tubular acidosis Speech delay otorhinolaryngologic diseases medicine Inner ear medicine.symptom business Cochlea Acidosis |
| Zdroj: | Case Reports in Pediatrics, Vol 2012 (2012) Case Reports in Pediatrics |
| ISSN: | 2090-6811 2090-6803 |
| DOI: | 10.1155/2012/605053 |
| Popis: | Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed inα-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. |
| Databáze: | OpenAIRE |
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