Disease Information for Wolman Disease

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Clinical Manifestations
Signs & Symptoms
Abdominal distension/protrusion/sign
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Fatty food intolerance
Flatus/gas foul smelling
Foul stool
Projectile vomiting
Relentless vomiting/retching/purging
Stool Bulky/greasy/frothy/malodorous
Hepatosplenomegaly
Jaundice/Yellow skin and eyes
Massive Hepatomegaly
Palpable Liver/Hepatomegaly
Hypotonia
Development Motor Skills (Milestones) Delayed
Splenomegaly
Clinical Presentation & Variations
Presentation/Death in infancy
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Fulminant/Precipitous
Course/Lethal
Course/Prognosis bad/usually
Course/Relapsing
Lethal Potential
Onset/Infancy 3-4 Months
Prognosis/Childhood-congenital early death usual
Demographics & Risk Factors
Ethnic or Racial Factors
Iran population/ethnic
Jewish population
Sephardic Jewish population
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chorionic Villous Sampling Abnormalities
Cultured fibroblast enzyme assay abnormal (Lab)
Vacuolated lymphocytes/Lab
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
Iron, serum (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Cholesterol (Lab)
STOOL Fat Sudan stain
Diagnostic Test Results
Pathology
BX/Skin biopsy/Abnormal
Cultured Fibroblasts/Lysosomal Acid Lipase Defect
Bone marrow/Foam cells
Bone Marrow/Sea-blue histiocytes/Pathology
PATH/Fat Deposition Viscera
X-RAY
Xray/Adrenal calcifications/bilateral/KUB
Xray/Adrenal calcifications/Diffuse punctate
Xray/Abdominal calcifications/ABD
Xray/Abdominal film abnormalities/ABD/KUB
Associated Diseases & Rule outs
Associated Disease & Complications
Adrenocortical insufficiency
Anemia
Arteriosclerosis
Cachexia/inanition/wasting
Cirrhosis
Death Newborn/Perinatal
Death/Unanticipated
Hepatic failure
Hypercholesterolemia
Malabsorption/Steatorrhea syndrome
Malnutrition/Starvation
Steatorrhea
Wolman Disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Neutral lipid storage disease/all tissues
Pathophysiology/Storage/glycerides/cholesteryl esters
Pathophysiology/Fat Malabsorption
Pathophysiology/Fat soluble Vitamin Malabsorption
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
Acid esterase deficiency, Acid lipase deficiency, Deficiency of cholesterol esterase and triacylglycerol lipase, Disease Wolman, Disease Wolman's, Familial visceral xanthomatosis, Familial Xanthomatoses, Familial Xanthomatosis, Familial xanthomatosis with adrenal involvement, LIPA deficiency, Liposomal Acid Lipase Deficiency Wolman Type, Lysosomal acid lipase deficien, Lysosomal acid lipase deficiency, Primary familial xanthomatosis, Primary familial xanthomatosis with adrenal calcification, Wolman, WOLMAN DIS, Wolman disease, Wolman xanthomatosis, WOLMANS DIS, Wolmans Disease, Wolman's disease, Wolman's disease (disorder), Wolman's or triglyceride storage Type III disease, Wolman's Xanthomatosis, Xanthomatoses Familial, Xanthomatosis Familial, Xanthomatosis familial (disorder), Xanthomatosis Wolman, Xanthomatosis Wolmans, Xanthomatosis Wolman's, Synonym/Acid Cholesteryl Hydrolase Deficiency
Treatment
Drug Therapy - Indication
RX/Directed Enzyme Replacement
RX/No effective/definitive treatment yet available
SX/Bone marrow transplant
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Surgical Procedures or Treatments
TX/Cord Blood Transplant
Other Treatments
TX/Supportive/Symptomatic treatment
Definition

The severe infantile form of inherited lysosomal lipid storage diseases, due to deficiency of acid lipase. It results in accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). An allelic variant of CHOLESTEROL ESTER STORAGE DISEASE, it is also known as Wolman's xanthomatosis.

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External Links Related to Wolman Disease
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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