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Cystic Leucoencephalopathy in NDUFV1 Mutation: Correspondence

  • Josef Finsterer
  • Sinda Zarrouk-Mahjoub
Correspondence
  • 27 Downloads

To the Editor: We read with interest the article by Wadhwa et al. about a one year boy with developmental delay and cystic leucoencephalopathy resembling Vanishing White Matter Disease (VWMD) [1]. Surprisingly, the phenotype was caused by a compound heterozygote missense mutation in the NDIFV1 gene [1]. We have the following comments and concerns.

Patients carrying NDUFV1 mutations may manifest with myoclonic epilepsy [2] or generalised epilepsy [3]. Did the patient ever develop myocloni or seizures? What were the findings on EEG in the reported patient? Was the family history positive for seizures?

Patients with mitochondrial disorders (MIDs) frequently manifest with multiorgan disease [4]. Organs/tissues particularly affected are, in addition to the brain, the muscles, the eyes, ears, endocrine organs, heart, gastrointestinal tract, kidneys, lungs, hematological system, bones, or skin. Was the patient prospectively investigated for multisystem disease?

NDUFV1carriers with...

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Krankenanstalt RudolfstiftungViennaAustria
  2. 2.University of Tunis El Manar and Genomics PlatformPasteur Institute of TunisTunisTunisia

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