A case of late infantile neuronal ceroid lipofuscinosis type 5
نویسندگان
چکیده
منابع مشابه
Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.
Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike a...
متن کاملNeurological deterioration in late infantile neuronal ceroid lipofuscinosis.
BACKGROUND Late infantile neuronal ceroid lipofuscinosis (LINCL) is associated with progressive degeneration of the brain and retina starting in early childhood. METHODS Thirty-two individual neurologic, ophthalmologic, and CNS imaging (MRI and MRS) assessments of 18 children with LINCL were analyzed. Disease severity was followed by two rating scales, one previously established but modified ...
متن کاملRetinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis.
PURPOSE Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characterized by progressive vision loss. The disease results from mutations in the TPP1 (CLN2) gene. Studies were undertaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds. METHODS A litter of four puppies consisting of one homozygous affected dog, two heterozygotes, an...
متن کاملIntraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis.
Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive neurodegenerative disease caused by mutations in CLN2, which encodes the lysosomal protease tripeptidyl peptidase 1 (TPP1). LINCL is characterized clinically by progressive motor and cognitive decline, and premature death. Enzyme-replacement therapy (ERT) is currently available for lysosomal storage diseases affecti...
متن کاملAn atypical case of neuronal ceroid lipofuscinosis
24 Background: The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the 25 most common Mendelian form of childhood-onset neurodegeneration, but the functions 26 of the known underlying gene products remain poorly understood. The clinical 27 heterogeneity of these disorders may shed light on genetic interactors that modify disease 28 onset and progression. 29 Case presentation: ...
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Child Health
سال: 2021
ISSN: 2386-110X,1391-5452
DOI: 10.4038/sljch.v50i2.9588