Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

Vasques, C O; Valério, Rosa; Reed, Umbertina Conti; Grossman, Rosi Mary; Kok, Fernando

doi:10.1590/s0004-282x2005000100017

Arq. Neuro-Psiquiatr.

2005

DOI: 10.1590/s0004-282x2005000100017

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Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

C O Vasques

Rosa Valério

Umbertina Conti Reed

et al.

Abstract: Tradicionalmente, as lipofuscinoses ceróides neuronais (LCN) eram classificadas de acordo com a idade de início e características clínicas em quatro grandes grupos. Recentemente, os estudos genéticos possibilitaram uma classificação mais pormenorizada dessa entidade em oito formas, permitindo o diagnóstico mais preciso de casos previamente considerados atípicos. Por outro lado, foi demonstrado que mutações de um mesmo gene poderiam ser responsáveis por grande variedade de fenótipos clínicos. O objetivo deste e… Show more

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Cited by 2 publications

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Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos

Gama¹,

Nakayama²,

Távora³

et al. 2007

Arq. Neuro-Psiquiatr.

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The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.

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Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos

Gama¹,

Nakayama²,

Távora³

et al. 2007

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

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Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

et al. 2022

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Neuronal ceroid lipofuscinoses (NCLs) comprise 13 hereditary neurodegenerative pathologies of very low frequency that affect individuals of all ages around the world. All NCLs share a set of symptoms that are similar to other diseases. The exhaustive collection of data from diverse sources (clinical, genetic, neurology, ophthalmology, etc.) would allow being able in the future to define this group with greater precision for a more efficient diagnostic and therapeutic approach. Despite the large amount of information worldwide, a detailed study of the characteristics of the NCLs in South America and the Caribbean region (SA&C) has not yet been done. Here, we aim to present and analyse the multidisciplinary evidence from all the SA&C with qualitative weighting and biostatistical evaluation of the casuistry. Seventy-one publications from seven countries were reviewed, and data from 261 individuals (including 44 individuals from the Cordoba cohort) were collected. Each NCL disease, as well as phenotypical and genetic data were described and discussed in the whole group. The CLN2, CLN6, and CLN3 disorders are the most frequent in the region. Eighty-seven percent of the individuals were 10 years old or less at the onset of symptoms. Seizures were the most common symptom, both at onset (51%) and throughout the disease course, followed by language (16%), motor (15%), and visual impairments (11%). Although symptoms were similar in all NCLs, some chronological differences could be observed. Sixty DNA variants were described, ranging from single nucleotide variants to large chromosomal deletions. The diagnostic odyssey was probably substantially decreased after medical education activities promoted by the pharmaceutical industry and parent organizations in some SA&C countries. There is a statistical deviation in the data probably due to the approval of the enzyme replacement therapy for CLN2 disease, which has led to a greater interest among the medical community for the early description of this pathology. As a general conclusion, it became clear in this work that the combined bibliographical/retrospective evaluation approach allowed a general overview of the multidisciplinary components and the epidemiological tendencies of NCLs in the SA&C region.

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Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

Cited by 2 publications

References 21 publications

Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos

Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview

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