Dataset Information

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

ABSTRACT:

Aim

Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.

Method

We conducted a retrospective review of the detailed neurological and neuroradiological features of nine children (four females, five males; age range at last examination 6-20y) with genetically proven EAST syndrome.

Results

All children presented with tonic-clonic seizures in infancy. Later, non-progressive, cerebellar ataxia and hearing loss were noted. Whilst seizures mostly responded well to treatment, ataxia proved to be the most debilitating feature, with three patients non-ambulant. All available magnetic resonance imaging (MRI) revealed subtle symmetrical signal changes in the cerebellar dentate nuclei. Moreover, four patients had a small corpus callosum and brainstem hypoplasia, and three had a small spinal cord. Regional quantitative volumetric analysis of the images confirmed the corpus callosum and brainstem hypoplasia and showed further patterns of variation from the norm.

Interpretation

The neurological features of EAST syndrome appear to be non-progressive, which is important for prognostic counselling. The spectrum of EAST syndrome includes consistent abnormalities on brain MRI, which may aid diagnosis. Further longitudinal documentation is required to determine the true natural history of the disorder.

SUBMITTER: Cross JH

PROVIDER: S-EPMC4298033 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Publications

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Cross J Helen JH Arora Ruchi R Heckemann Rolf A RA Gunny Roxana R Chong Kling K Carr Lucinda L Baldeweg Torsten T Differ Ann-Marie AM Lench Nicholas N Varadkar Sophie S Sirimanna Tony T Wassmer Evangeline E Hulton Sally A SA Ognjanovic Milos M Ramesh Venkateswaran V Feather Sally S Kleta Robert R Hammers Alexander A Bockenhauer Detlef D

Developmental medicine and child neurology 20130901 9

<h4>Aim</h4>Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities.<h4>Method</h4>We conducted a retrospective review of the detailed ...[more]

PMID: 23924083

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Dataset Information

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Aim

Method

Results

Interpretation

Publications

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

Similar Datasets

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