Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

Autor:	Faten Tinsa, Manel Jallouli, D. Bousnina, Catherine Caillaud, Khadija Boussetta, Souad Bousnina, Hela Louati
Rok vydání:	2008
Předmět:	Pediatrics medicine.medical_specialty medicine.diagnostic_test business.industry Fundus (eye) medicine.disease Ophthalmology Febrile seizure Magnetic resonance imaging of the brain medicine Ceroid lipofuscinosis Myoclonic epilepsy Cerebellar atrophy Neurology (clinical) Late infantile neuronal ceroid lipofuscinosis business Psychomotor delay
Zdroj:	Neuro-Ophthalmology. 32:210-213
ISSN:	1744-506X 0165-8107
Popis:	The classical form of late infantile neuronal ceroid lipofuscinosis is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. We report a two-year-old Tunisian boy who presented this form of ceroid lipofuscinosis. A febrile seizure was the presenting symptom without psychomotor delay. Magnetic resonance imaging of the brain showed mild cerebellar atrophy. Fundus oculi showed bilateral posterior polar cataract, which is a new finding in the classical form of late infantile neuronal ceroid lipofuscinosis. A homozygous R208X mutation was identified in the NLC2 gene. On follow up, this patient presented with myoclonic epilepsy and regression of acquired milestones.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e7dd3a95108f187cb70ff03bbd45b6d2 https://doi.org/10.1080/01658100802266982 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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