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Van der Knaap Disease (Vanishing White Matter) - Unusual Presentation in a Neonate: A Case Report.
Jhancy, Malay; Al Homsi, Ammar; Chowdhury, Fatema; Hossain, Samiha; Ahamed, Reshme.
Afiliação
  • Jhancy M; Associate Professor of Pediatrics, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates; Former Assistant Professor of Pediatrics, Department of Pediatrics, Rangaraya Medical College, Kakinada, Andhra Pradesh, India.
  • Al Homsi A; RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates.
  • Chowdhury F; RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates.
  • Hossain S; RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates.
  • Ahamed R; RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates.
Neurol India ; 68(3): 669-672, 2020.
Article em En | MEDLINE | ID: mdl-32643685
Van der Knaap disease, also known as megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a rare autosomal disorder, with no exact prevalence but more than 150 cases were reported in the literature. It was more prevalent in some ethnicities where consanguinity is common.[1] It is usually characterized by infantile-onset macrocephaly, cerebral leukoencephalopathy and mild neurological symptoms, and a slow course of functional deterioration.[2] Diagnosis is determined by suggestive clinical features and MRI findings that include leukodystrophy and subcortical cysts. Herein, we present a rare occurrence of Van der Knaap disease, in a 24-day-old female neonate with similar MRI findings, who presented with neonatal seizures for evaluation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Substância Branca Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central / Cistos / Substância Branca Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article