Navegando por Palavras-chave "leukoencephalopathy"

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    Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene
    (Sage Publications Inc, 2010-11-01) Lin, Jaime [UNIFESP]; Faria, Eliete Chiconelli; Da Rocha, Antonio Jose; Masruha, Marcelo Rodrigues; Pereira Vilanova, Luiz Celso; Scheper, Gert C.; Van der Knaap, Marjo S.; Universidade Federal de São Paulo (UNIFESP); Fac Ciencias Med Santa Casa São Paulo; Vrije Univ Amsterdam
    Leukoencephalopathy with brainstem and spinal cord involvement and elevated brain lactate diagnosis is based on its highly characteristic pattern of abnormalities observed by magnetic resonance imaging and spectroscopy. Clinically, affected patients develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. in 2007, the pathophysiology of this disorder was elucidated with the discovery of mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals. Here, the authors present a case of leukoencephalopathy with brainstem and spinal cord involvement with normal brain lactate, in which genetic analysis revealed a new mutation in the DARS2 gene not previously described.
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    Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families
    (Elsevier B.V., 2002-06-01) Rosemberg, S.; Leite, C. D.; Arita, Fernando Norio [UNIFESP]; Kliemann, S. E.; Lacerda, MTC; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
    Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. in all cases the initial symptoms occurred in the three first years of life. in three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. in three patients a significant deceleration of the head growth was noted. in one family. brother and sister were affected but the twin brother of the boy was free from the disease. in another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. in one family, the parents were first cousins. in all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid. (C) 2002 Elsevier Science B.V. All rights reserved.
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    NFU1-Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy
    (Georg Thieme Verlag Kg, 2018) Sgobbi de Souza, Paulo Victor [UNIFESP]; Bortholin, Thiago [UNIFESP]; Burlin, Stenio [UNIFESP]; Monteiro Naylor, Fernando George [UNIFESP]; de Rezende Pinto, Wladimir Bocca Vieira [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]
    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.