Biomaterial Database

Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms. 1989

E Klemm, and E Conzelmann

Department of Neurology, University of Bonn, Federal Republic of Germany.

A 24-year-old man presented with a spastic and ataxic condition resembling chronic-progressive multiple sclerosis. Radiological examination revealed symmetrical diffuse paraventricular demyelination. Electrophysiological findings suggested additional involvement of the brain stem and the peripheral nervous system. The diagnosis of adult-onset metachromatic leucodystrophy was confirmed by biochemical and ultrastructural examination. In contrast to almost all adult cases reported so far, psychiatric symptoms were not present.

UI	MeSH Term	Description	Entries
D007966	Leukodystrophy, Metachromatic	An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.	Arylsulfatase A Deficiency Disease,Cerebroside Sulphatase Deficiency Disease,ARSA Deficiency,Arylsulfatase A Deficiency,Cerebral sclerosis, Diffuse, Metachromatic Form,Cerebroside Sulfatase Deficiency,Greenfield Disease,Greenfield's Disease,Leukodystrophy, Metachromatic, Adult,Leukodystrophy, Metachromatic, Juvenile,Metachromatic Leukodystrophy,Metachromatic Leukodystrophy, Adult,Metachromatic Leukodystrophy, Adult-Type,Metachromatic Leukodystrophy, Infant,Metachromatic Leukodystrophy, Infant-Type,Metachromatic Leukodystrophy, Juvenile,Metachromatic Leukodystrophy, Juvenile-Type,Metachromatic Leukodystrophy, Late Infantile,Metachromatic Leukoencephalopathy,Sulfatide Lipidosis,ARSA Deficiencies,Adult Metachromatic Leukodystrophies,Adult Metachromatic Leukodystrophy,Adult-Type Metachromatic Leukodystrophies,Adult-Type Metachromatic Leukodystrophy,Arylsulfatase A Deficiencies,Cerebroside Sulfatase Deficiencies,Deficiencies, ARSA,Deficiencies, Arylsulfatase A,Deficiencies, Cerebroside Sulfatase,Deficiency, ARSA,Deficiency, Arylsulfatase A,Deficiency, Cerebroside Sulfatase,Infant Metachromatic Leukodystrophies,Infant Metachromatic Leukodystrophy,Infant-Type Metachromatic Leukodystrophies,Infant-Type Metachromatic Leukodystrophy,Juvenile Metachromatic Leukodystrophies,Juvenile Metachromatic Leukodystrophy,Juvenile-Type Metachromatic Leukodystrophies,Juvenile-Type Metachromatic Leukodystrophy,Leukodystrophies, Adult Metachromatic,Leukodystrophies, Adult-Type Metachromatic,Leukodystrophies, Juvenile Metachromatic,Leukodystrophies, Juvenile-Type Metachromatic,Leukodystrophies, Metachromatic,Leukodystrophy, Adult Metachromatic,Leukodystrophy, Adult-Type Metachromatic,Leukodystrophy, Juvenile Metachromatic,Leukodystrophy, Juvenile-Type Metachromatic,Leukoencephalopathies, Metachromatic,Leukoencephalopathy, Metachromatic,Lipidosis, Sulfatide,Metachromatic Leukodystrophies,Metachromatic Leukodystrophies, Adult,Metachromatic Leukodystrophies, Adult-Type,Metachromatic Leukodystrophies, Infant,Metachromatic Leukodystrophies, Infant-Type,Metachromatic Leukodystrophies, Juvenile,Metachromatic Leukodystrophies, Juvenile-Type,Metachromatic Leukodystrophy, Adult Type,Metachromatic Leukodystrophy, Infant Type,Metachromatic Leukodystrophy, Juvenile Type,Metachromatic Leukoencephalopathies,Sulfatase Deficiencies, Cerebroside,Sulfatase Deficiency, Cerebroside
D008297	Male		Males
D012007	Rectum	The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL.	Rectums
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004594	Electrophysiology	The study of the generation and behavior of electrical charges in living organisms particularly the nervous system and the effects of electricity on living organisms.
D005192	Family Health	The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.	Health, Family
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001241	Aspirin	The prototypical analgesic used in the treatment of mild to moderate pain. It has anti-inflammatory and antipyretic properties and acts as an inhibitor of cyclooxygenase which results in the inhibition of the biosynthesis of prostaglandins. Aspirin also inhibits platelet aggregation and is used in the prevention of arterial and venous thrombosis. (From Martindale, The Extra Pharmacopoeia, 30th ed, p5)	Acetylsalicylic Acid,2-(Acetyloxy)benzoic Acid,Acetysal,Acylpyrin,Aloxiprimum,Colfarit,Dispril,Easprin,Ecotrin,Endosprin,Magnecyl,Micristin,Polopirin,Polopiryna,Solprin,Solupsan,Zorprin,Acid, Acetylsalicylic
D001523	Mental Disorders	Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.	Mental Illness,Psychiatric Diseases,Psychiatric Disorders,Psychiatric Illness,Behavior Disorders,Diagnosis, Psychiatric,Mental Disorders, Severe,Psychiatric Diagnosis,Illness, Mental,Mental Disorder,Mental Disorder, Severe,Mental Illnesses,Psychiatric Disease,Psychiatric Disorder,Psychiatric Illnesses,Severe Mental Disorder,Severe Mental Disorders