Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Mar;7(1):40-42.
doi: 10.1055/s-0037-1606295. Epub 2017 Aug 24.

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Affiliations
Case Reports

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Paulo Victor Sgobbi de Souza et al. J Pediatr Genet. 2018 Mar.

Abstract

Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We describe a 6-month-old Brazilian boy with a 2-month history of severe and rapidly progressive developmental and psychomotor regression and seizures. Neurological examination showed spastic tetraparesis and lethargy. Neuroimaging showed diffuse and symmetric cavitating cystic leukoencephalopathy. Whole-exome sequencing revealed compound heterozygous mutations in the NFU1 gene, providing definite genetic diagnosis of multiple mitochondrial dysfunction syndrome type 1. We report a rare presentation of early-onset cystic leukoencephalopathy in the context of multiple mitochondrial dysfunction syndrome type 1.

Keywords: leukodystrophy mitochondrial disease; leukoencephalopathy; neuroimaging.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest None.

Figures

Fig. 1
Fig. 1
Neuroimaging findings in MMDS type 1 ( NFU1 -related disorder). ( A ) Sagittal and ( B ) coronal brain MR images disclosing corpus callosum dysgenesis, pontocerebellar atrophy, and marked diffuse cavitating lesions involving mainly the periventricular and profound supratentorial white matter in T2-weighted images. Axial brain MR images disclosing multiple cystic and cavitating lesions of the supratentorial white matter with relative sparing of the basal ganglia and anterior temporal lobe in T2 ( C,D,F ) and T1-weighted sequences ( E ). MR, magnetic resonance; MMDS, multiple mitochondrial dysfunction syndrome.

Similar articles

Cited by

References

    1. Schiffmann R, van der Knaap M S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009;72(08):750–759. - PMC - PubMed
    1. Vanderver A, Prust M, Tonduti D et al.Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015;114(04):494–500. - PMC - PubMed
    1. Invernizzi F, Ardissone A, Lamantea E et al.Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations. Front Genet. 2014;5:412. - PMC - PubMed
    1. Cameron J M, Janer A, Levandovskiy V et al.Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Am J Hum Genet. 2011;89(04):486–495. - PMC - PubMed
    1. Navarro-Sastre A, Tort F, Stehling O et al.A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet. 2011;89(05):656–667. - PMC - PubMed

Publication types

Grants and funding

Funding None.