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Disease Information for Metachromatic leukodystrophy

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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External Links Related to Metachromatic leukodystrophy

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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