J Pediatr Genet 2018; 07(01): 040-042
DOI: 10.1055/s-0037-1606295
Case Report
Georg Thieme Verlag KG Stuttgart · New York

NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy

Paulo Victor Sgobbi de Souza
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
,
Thiago Bortholin
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
,
Stênio Burlin
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
,
Fernando George Monteiro Naylor
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
,
Wladimir Bocca Vieira de Rezende Pinto
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
,
Acary Souza Bulle Oliveira
1  Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil
› Author Affiliations
Funding None.
Further Information

Publication History

14 May 2017

27 July 2017

Publication Date:
24 August 2017 (eFirst)

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.

Note

Full consent was obtained from the patient's parents for the case report. This study was approved by the authors' ethics institution.