Disease Information for Metachromatic leukodystrophy

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Head Lag Infant Sign
Muscle stiffness/rigidity
Neck weakness/head nodding
Ataxia
Babinski's upgoing toes/bilateral
CNS symptoms/signs
Dystonia
Head Neck Floppy Infant Hypotonia Sign
Hemiplegic Gait
Hyporeflexia/DTRs decreased
Long tract signs
Mental Deficiency Child
Mental/motor retardation in children/signs
Motor and sensory neuropathy/Polyneuropathy signs
Staggering Gait
Symmetric Polyneuropathy
Weak reflexes
Psychomotor retardation
Cherry red spot/retinal sign
Clinical Presentation & Variations
Presentation/Acute encephalopathy Child
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Parental consanguinity
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Preschool child/boy
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Transaminase elevation (Lab)
URINE Chromatography/sulfatides increased
CSF abnormal
Abnormal Lab Findings - Decreased
Lactic acid/Lactate (Lab)
Abnormal Lab Findings - Increased
Aspartamine aminotransferase (SGOT, AST) (Lab)
AST (SGOT) (aspartamine transferase) (Lab)
URINE Lake test/Brown metachromasia sediment
URINE Sediment brown metachromasia
CSF Aldolase
CSF Aspartate amino transferase
CSF LDH
Diagnostic Test Results
Pathology
BX/Nerve biopsy/abnormal
BX/Nerve biopsy/Brown metachromasia/Schwann cells
PATH/Brain white matter multifocal lesions
PATH/Brain/White matter lesion/disease
PATH/CNS/Metachromatic/galactosphingosulfatide deposits
CT Scan
MRI/Head Brain Abnormal
MRI/Head Scan Abnormal
MRI/Head White matter lesions
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Multiple sclerosis
Associated Disease & Complications
Basal gangion lesion/secondary
Blindness in Children
Developmental neurologic degeneration/child
Hemiparesis
Hemiplegia
Leukodystrophy
Leukoencephalopathy process
Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Peripheral neuropathy
Polyneuritis
Akinetic Rigid Syndrome
Demyelinating Disease
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Arylsulfatase A decreased/CNS
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Specific lipid accumulation tissues
Pathophysiology/Demyelination
Pathophysiology/Diffuse/progressive cerebral disease
Pathophysiology/Galactosphingosulfatides myelin deposits
Pathophysiology/Sulfatide accumulation/myelin sheath
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sphingolipid metabolic disorder (ex)
PROCESS/Storage disorder (ex)
PROCESS/Use/Age/atrophic disorder (category)
PROCESS/Cerebral lipidoses (ex)
PROCESS/CNS/White matter disorder (ex)
PROCESS/Leukodystrophy process (ex)
PROCESS/Myelin involvement/disorder (ex)
PROCESS/Storage disorder/brain (ex)
Synonyms
Synonym
ARSA Arylsulfatase A defic, ARSA Arylsulfatase A deficiency, ARSA Arylsulphatase A defic, ARSA Arylsulphatase A deficiency, ARSA DEFICIENCY, ARYLSULFATASE A DEFIC DIS, ARYLSULFATASE A DEFICIENCY, Arylsulfatase A deficiency (disorder), Arylsulfatase A Deficiency Disease, Arylsulphatase A deficiency, brain sclerosis progressive familial, CEREBRAL SCLEROSIS DIFFUSE METACHROMATIC FORM, Cerebroside sulfatase defic, CEREBROSIDE SULFATASE DEFICIENCY, Cerebroside sulphatase defic, CEREBROSIDE SULPHATASE DEFIC DIS, Cerebroside sulphatase deficiency, Cerebroside Sulphatase Deficiency Disease, Deficiency of cerebroside sulfatase, Deficiency of cerebroside sulfatase (disorder), Deficiency of cerebroside sulphatase, Familial progressive cerebral sclerosis, Leukodystrophies Metachromatic, Leukodystrophy metachromatic, LEUKOENCEPHALOPATHY METACHROMATIC, Lipidosis Sulfatide, Metachromatic leucodystrophy, Metachromatic leucodystrophy (disorder), Metachromatic Leukodystrophies, Metachromatic Leukodystrophy, Metachromatic leukodystrophy (disorder), METACHROMATIC LEUKOENCEPHALOPATHY, Metachromatic leukoencephaly, MLD, MLD Metachromatic leucodystrophy, MLD Metachromatic leucodystrop, Scholz, Scholz Bielschowsky Henneberg diffuse cerebral sclerosis, Scholz cerebral sclerosis, sclerosis brain progressive familial, Severe deficiency of arylsulfatase, Severe deficiency of arylsulphatase, Sulfatide lipidosis, sulfatide lipoidosis, Sulphatide lipidosis, van Bogaert Nijssen disease, Early Onset Ataxia/Children, Synonym/Arylsulfatase A deficiency, Synonym/Greenfield's disease, Synonym/Leukoencephalopathy, metachromatic, Synonym/Sulfatidosis
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5)

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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