Disease Information for Infantile ceroid lipofuscinosis/Finnish (Santvuori-Haltia)

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Clinical Manifestations
Signs & Symptoms
Hypotonia
Ataxia
Babinski's upgoing toes/bilateral
Immobility/little spontaneous movement
Myoclonus/Myoclonic jerks on exam
Psychomotor regression/infant/child
Regressing neuromotor/skills child/signs
Seizures
Spastic paralysis/signs
Staggering Gait
Unsteadiness movement/Gait in a child
Psychomotor retardation
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Course/Progressive
Onset/Age 9 to 19 months
Onset/Age one
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/Brain Neuron fatty granules/lipopigment/ceroid
PATH/Neuronal ceroid lipofuscinosis
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Cerebellar ataxia
Convulsions (grand mal)
Developmental neurologic degeneration/child
Infantile ceroid lipofuscinosis/Finnish
Microcephaly/oligophrenia
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Ceroid Lipofuscinoses (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
Infantile Neuronal Ceroid Lipfuscinosis, Neuronal Ceroid Lipfuscinosis Infantile, SANTAVUORI HALTIA DIS, Santavuori Haltia Disease, Synonym/CLN1 (infantile lipofuschinosis), Synonym/INCL (lipofuschinosis), Synonym/Infantile Balkan disease/lipofuschinosis, Synonym/Infantile Finnish type neuronal lipofuschinosis, Synonym/Infantile neuronal ceroid lipofuschinosis, Synonym/Santavuori disease, Synonym/Santavuori-Haltia disease
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

Santavuori Disease;CLN1; Infantile Finnish Type Neuronal Ceroid Lipofuscinosis (Balkan Disease); Infantile Neuronal Ceroid Lipofuscinosis; Infantile Type Neuronal Ceroid Lipofuscinosis; Neuronal Ceroid Lipofuscinosis Type 1;

Santavuori-Haltia Disease; Santavuori Disease, an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL); These diseases share certain similar symptoms and are distinguished in part by the age at which such symptoms appear; Santavuori Disease is considered the infantile form of the neuronal ceroid lipofuscinoses; In most cases, infants with Santavuori Disease appear to develop normally until approximately nine to 19 months of age; They may then begin to exhibit a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation); In addition, affected infants begin to lose previously acquired physical and mental abilities (developmental regression); Affected infants may then experience a variety of symptoms including episodes of uncontrolled electrical disturbances in the brain (seizures), impaired ability to coordinate voluntary movements (cerebellar ataxia), abnormally diminished muscle tone (hypotonia), and repeated, brief, shock-like muscle spasms of the arms, legs, or entire body (myoclonic seizures); Affected infants also experience progressive visual impairment due to deterioration of the nerves of the eyes (optic nerves) that transmit impulses from the nerve-rich membranes lining the eyes (retina) to the brain (optic atrophy); Neurological impairment continues to progress and may be characterized by an inability to move voluntarily (immobility); sudden involuntary muscle spasms (spasticity); and lack of response to stimuli in the environment. Life-threatening complications may develop by the end of the first decade; The symptoms and physical characteristics of Santavuori Disease result due to abnormal accumulation of certain fatty, granular substances (ie, pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body; Santavuori Disease is inherited as an autosomal recessive genetic trait

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External Links Related to Infantile ceroid lipofuscinosis/Finnish (Santvuori-Haltia)
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PubMed (National Library of Medicine)
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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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