Disease Information for Ceroid lipofuschinosis/Late infantile (Jansky)

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Clinical Manifestations
Signs & Symptoms
Babinski's upgoing toes/bilateral
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Pathology
PATH/Neuronal ceroid lipofuscinosis
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Associated Disease & Complications
Blindness in Children
Developmental neurologic degeneration/child
Late infantile ceroid lipofuscinosis/Jansky-B
Microcephaly/oligophrenia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Ceroid Lipofuscinoses (ex)
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
Amaurotic idiocy early juv typ, Amaurotic idiocy early juvenile type, Amaurotic idiocy late infant, Amaurotic idiocy late infantile type, Bielsch Jansky neur cer lipofu, Bielschowsky Jansky disease, Bielschowsky Jansky type neuronal ceroid lipofuscinosis, Disease Jansky Bielschowsky, Dollin Bielsch neur ceroid lip, Dollinger Bielschowsky syndrome, Dollinger Bielschowsky type neuronal ceroid lipofuscinosis, jansky Bielschowsky amaurotic idiocy, JANSKY BIELSCHOWSKY DIS, Jansky Bielschowsky Disease, Late infant neur ceroid lipofu, Late Infantile Neuronal Ceroid Lipfuscinosis, Late infantile neuronal ceroid lipofuscinosis, Late infantile neuronal ceroid lipofuscinosis (disorder), LINCL, Neuronal Ceroid Lipfuscinosis Late Infantile, NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE, Neuronal lipofuscinosis infantile, Early Onset Ataxia/Children, Synonym/Amaurotic familial idiocy, late infantile, Synonym/Jansky-Bielschowsky syndrome
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Ceroid lipofuschinosis/Late infantile (Jansky)
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Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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