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Disease Information for Ceroid lipofuschinosis/Late infantile (Jansky)

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: Be the first to add a definition for Ceroid lipofuschinosis/Late infantile (Jansky)
External Links Related to Ceroid lipofuschinosis/Late infantile (Jansky): Google; Wikipedia; Merck; 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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