Childhood-onset (Juvenile) Huntington′s disease: A rare case report

Patra, Kailash Chandra; Shirolkar, Mukund Sudhir

doi:10.4103/1817-1745.165709

Cited by 14 publications

(12 citation statements)

References 17 publications

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“…His brain MR Spectroscopy demonstrated normal metabolite patterns. Some reports described brain MRIs that showed hyper intensity involving the caudate nucleus and putamen on both sides 19 Other studies reported subcortical nonspecific tbl2 hyper intense lesions, particularly in patients with the rigid, more than the classical hyperkinetic form. 20 Cerebral volumetric loss has also been described in the basal ganglia, thalami, hippocampi, substantia nigra, and cerebellum with varying degrees of atrophy correlating with the disease stage.…”

Section: Discussionmentioning

confidence: 99%

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review

Khair

Kabrt

Falchek

2020

Qatar Medical Journal

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Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%–10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently available relevant literature. The currently reported case sheds light on antiepileptic drugs that proved effective in our patient and the importance of screening for JHD when a child presents with seizures that are difficult to control.

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Section: Discussionmentioning

confidence: 99%

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review

Khair

Kabrt

Falchek

2020

Qatar Medical Journal

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“…In contrast to our findings, several smaller case studies of patients with JOHD reported smaller cerebellar volumes. 29–31 These studies are limited by their smaller sample size and confounded by the presence of epilepsy in the majority of their patients. Only 20% of patients in our JHD cohort had a history of seizures.…”

Section: Discussionmentioning

confidence: 99%

Brain structure in juvenile-onset Huntington disease

et al. 2019

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ObjectiveTo assess brain morphometry in a sample of patients with juvenile-onset Huntington disease (JOHD) and several mouse models of Huntington disease (HD) that likely represent the human JOHD phenotype.MethodsDespite sharing the mutation in the Huntingtin gene, adult-onset HD characteristically presents as a hyperkinetic motor disorder, while JOHD typically presents as a hypokinetic motor disease. The University of Iowa Kids-JHD program enrolls individuals 5 to 25 years of age who have already received the clinical diagnosis. A total of 19 children with juvenile HD (JHD) (mean CAG = 72) were studied. Patients with JHD were compared to healthy controls (n = 234) using a cross-sectional study design. Volumetric data from structural MRI was compared between groups. In addition, we used the same procedure to evaluate brain morphology of R6/2, zQ175, HdhQ250 HD mice models.ResultsParticipants with JHD had substantially reduced intracranial volumes. After controlling for the small intracranial volume size, the volumes of subcortical regions (caudate, putamen, globus pallidus, and thalamus) and of cortical white matter were significantly decreased in patients with JHD. However, the cerebellum was proportionately enlarged in the JHD sample. The cerebral cortex was largely unaffected. Likewise, HD mice had a lower volume of striatum and a higher volume of cerebellum, mirroring the human MRI results.ConclusionsThe primary pathology of JOHD extends beyond changes in the striatal volume. Brain morphology in both mice and human patients with JHD shows proportional cerebellar enlargement. This pattern of brain changes may explain the unique picture of hypokinetic motor symptoms in JHD, which is not seen in the hyperkinetic chorea-like phenotype of adult-onset HD.

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“…Um estudo com 29 pacientes possuindo herança paterna mostrou que estes tendem a ter antecipação da doença e um maior número de repetições, consequentemente distúrbios mais graves 13 , o que é reforçado por um outro estudo que comparou adultos com DH e jovens com DHJ, chegando à conclusão que os mais novos possuem maior instabilidade da expansão CAG e progressão mais rápida da doença¹. Os autores também reforçam que o início dos sintomas pode cursar com alterações na função executiva e desempenho escolar, depressão, ansiedade e distúrbios de movimento 2,4,5,7,8,15,16 , bem como que as convulsões apresentadas pelos pacientes podem ser mistas de diferentes tipos 17 . Outro sintoma, que se assemelha à DH adulta, consiste nos movimentos oculares sacádicos alterados, que podem estar relacionados diretamente com a gravidade da DHJ 14 .…”

Section: Dicussãounclassified

“…Dentre as alterações de imagem, foram constatadas evidentes atrofias cerebelar 2,5,7,9,13 , de núcleos caudado e putâmen (corpo estriado) 1,5,7,10,16 na grande maioria dos pacientes, com significativo alargamento ventricular 5,10 em alguns, que se evidenciam com a evolução do quadro, não sendo encontrados em diagnósticos precoces. Quanto aos achados de RM, as medidas de volume intracraniano se apresentaram reduzidas 19 .…”

Section: Dicussãounclassified

Manifestações neuropsicomotoras da doença de Huntington juvenil

Nogueira

Rocha

Vasconcelos

et al. 2019

Rev. Med. (São Paulo)

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Nogueira LA, Rocha AEO, Vasconcelos LM, Figueiredo Junior JAB, Bragato SGR. Manifestações neuropsicomotoras da doença de Huntington juvenil: sinais e sintomas e achados de imagem / Neuropsychomotor manifestations of juvenile Huntington's disease: signs and symptoms and imaging findings. Rev Med (São Paulo). 2019 nov.-dez.;98(6):408-14. RESUMO: A Doença de Huntington Juvenil (DHJ) consiste na neurodegeneração de células nervosas causada pela formação da proteína alterada denominada huntingtina, acumuladano citoplasma e núcleo de neurônios, capaz de gerar morte progressiva destas células de forma mais evidente no corpo estriado, que engloba os núcleos caudado e putâmen. A variante juvenil da Doença de Huntington manifesta-se em pacientes com idades entre 0 a 20 anos, com variedade de distúrbios motores, cognitivos e comportamentais. Com o objetivo de estudar os mais prevalentes sinais, sintomas e achados de imagem, bem como as manifestações iniciais e a evolução sintomatológica ao decorrer da doença, foi realizada uma revisão integrativa de literaturas, incluindo o total de 25 artigos selecionados após a adequação de critérios de exclusão e inclusão. Após a análise dos dados, concluiu-se que os sintomas mais destacados foram rigidez muscular, disartria, convulsões, bradicinesia e disfunções cognitivas e comportamentais. Em se tratando de achados de imagem, prevaleceram atrofia de núcleos da base e cerebelo em pacientes com a doença mais avançada e diagnosticados em tempo maior.ABSTRACT: Juvenile Huntington's disease consists of neurodegeneration of nerve cells caused by the formation of the altered protein called huntingtin, accumulated in the cytoplasm and nucleus of neurons, capable of generating progressive death of these cells more clearly in the striatum, which includes the nuclei caudate and putamen. The juvenile variant of Huntington's disease manifests in patients aged 0 to 20 years, with a variety of motor, cognitive and behavioral disorders. In order to study the most prevalent signs, symptoms and imaging findings, as well as the initial manifestations and the symptomatic evolution during the course of the disease, an integrative literature review was carried out, including a total of 25 articles selected after the adequacy of criteria exclusion and inclusion. After analyzing the data, it was concluded that the most prominent symptoms were muscle stiffness, dysarthria, seizures, bradykinesia and cognitive and behavioral dysfunctions. In terms of imaging findings, atrophy of nuclei of the base and cerebellum prevailed in patients with the most advanced disease and diagnosed in greater time.

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Childhood-onset (Juvenile) Huntington′s disease: A rare case report

Cited by 14 publications

References 17 publications

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review

Drug-Resistant Epilepsy in Children with Juvenile Huntington's Disease: A Challenging Case and Brief Review

Brain structure in juvenile-onset Huntington disease

Manifestações neuropsicomotoras da doença de Huntington juvenil

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