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Metabolic Diseases

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A child presents with hepatosplenomegaly, abdominal distension, jaundice, anemia and adrenal calcification. Which of the following is the diagnosis? (AIIMS May 2014)

A Adrenal hemorrhage

B Wolman's disease

C Pheochromocytoma

D Addison's disease

Ans. B

Wolman disease

a. Wolman disease is ve4t rare, with only 50 reports of the disease published in the worldwide medical literature. It is an autosomal recessive disease and affects both mal€s and females.

b. The disease affects the breakdown and use of fats and cholesterol in the body and belongs to a family of disorders called lipid storage disorders.

c. Wolman disease is caused by mutations in the LIPA gene. The LIPA gene encodes for an enzyme called lysosomal acid lipase which is found in the lysosomes. It breaks down fats such as cholesteryl esters and triglycerides so that they can be used by the body.

d. A shortage of lysosomal acid lipase leads to accumulatioa of triglycerfules, cholesteryl esters and other fats within the cells of the affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in signs and symptoms of wolmans disease.

Clinical features:-

a. ln affected individuals harmfirl amounts oflipids accumul e itthe spleen,liyeri bone marrow, small intestine, adrenal glands and lymphnodes.

b. In eddition to fat deposits, calcium deposits in the tdrenal gland are also seen.

c. Infants with wolman disease xe heaW and active al bir'lh but soon develops signs and symptoms of the disorder. These may include:-

i. Enlarged liver and spleen

ii. Poor weight gain

iii. Low muscle tone

iv. Jaundice

v. Vomiting

vi. q Diarrho€a

vii. Developmantal delays

viii. Anremia (low amount of iron in blood) poor absorption of nutrients from food.

ix. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.


X-Ray findings of wolmsns disesse

Characteristic pattern of calcification (outlining the outline of the cortex of both the glands) in enlarged but nornally shaped adrenal glands.

CT Scan and MRI

o It shows enlargement of the liver and spleen. calcification of both adr€nal glands and lymphadenopathy (enlarged lymph nodes).

Metabolic Diseases Flashcard List

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