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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Novel brain MRI abnormalities in Gitelman syndrome.

Ahmed El Beltagi¹, Alexander Norbash², Surjith Vattoth³

¹Department of Radiology, Al-Sabah Hospital, Kuwait ah_elbeltagi@hotmail.com.

The Neuroradiology Journal

|October 8, 2015

Summary

Gitelman syndrome, a kidney disorder, can cause brain abnormalities like encephalopathy. This case highlights new MRI findings in a young patient, suggesting metabolic derangements impact brain function.

Area of Science:

Neurology
Nephrology
Medical Imaging

Background:

Gitelman syndrome is a genetic kidney disorder causing electrolyte imbalances.

Keywords:

Gitelman syndrome encephalopathy respiratory chain

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Neuroradiological findings in Gitelman syndrome are rarely documented.

Previous reports include basal ganglia calcification and intracranial hypertension.