Van der Knaap Disease (Vanishing White Matter) – Unusual Presentation in a Neonate: A Case Report
| Autor: | Samiha Hossain, Fatema Chowdhury, Reshme Ahamed, Ammar Al Homsi, Malay Jhancy |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Megalencephalic leukoencephalopathy with subcortical cysts business.industry Leukodystrophy Macrocephaly Disease Consanguinity medicine.disease 030218 nuclear medicine & medical imaging Leukoencephalopathy White matter 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Neurology medicine Neurology (clinical) medicine.symptom Presentation (obstetrics) business 030217 neurology & neurosurgery |
| Zdroj: | Neurology India. 68:669 |
| ISSN: | 0028-3886 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |