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Case Reports
. 2012 Jul-Aug;18(4):285-9.
doi: 10.4103/1319-3767.98439.

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

Abdulaziz AlSaman  1 , Hoda Tomoum, Federica Invernizzi, Massimo Zeviani
Affiliations
Case Reports

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

Abdulaziz AlSaman et al. Saudi J Gastroenterol. 2012 Jul-Aug.

Abstract

Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
(a-b) Image of the patient showing brittle and sparse hair; scaly and pruritic skin with eczematoid changes and lichenification
Figure 2
Figure 2
(a-b) MRI brain of the patient (axial FLAIR) showing increased signal intensity in T2 weighted images- involving the cortical and subcortical white matter
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts