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Mediastinal Teratoma
Joseph Junewick, MD FACR
over 8 years ago
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Niemann-Pick Interstitial Lung Disease

Case Detail

Anatomy: Chest
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

Child with Niemann-Pick disease.


Case Images


Diagnosis

Niemann-Pick Interstitial Lung Disease

Findings

CR – Lower lobe interstitial pulmonary opacification. Note the hepatosplenomegaly.

Discussion

Niemann-Pick disease represents a diverse congenital lipidoses characterized by abnormal processing and deposition of lipids in the reticuloendothelial system (liver, spleen, lungs and bone marrow)and the brain to a lesser extent. The incidence of Niemann-Pick disease is estimated at approximately 1:100,000 and can affect all ethnicities but is more common in those of Middle Eastern or North African descent.

Niemann-Pick A and B are related to deficiency of acid sphingomyelinase secondary to mutations on chromosome 11. Type A manifests during infancy and is characterized by progressive neurodegeneration, hepatosplenomegaly and lymphadenopathy. Type B has little or no neurodegeneration but does show hepatosplenomegaly, bone marrow failure, and reticulonodular infiltration of the lungs. Type C represents a genetically distinct defect in the NPC1 and NPC2 genes which leads to impaired lipid transport.

Skeletal manifestations of Niemann-Pick disease include widened medullary spaces, thin cortices, osteopenia, coxa valga and thoracolumbar gibbus. On CT of the chest, ground glass opacities in the upper lungs and thickened interlobular septae in the lower lungs. Patients with Niemann-Pick disease surviving into adulthood may have accelerated atherosclerosis.

Reference

Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase deficient Niemann-Pick disease. J Inherit Metab Dis (2007); 37:654-663.

Wraith JE, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009); 98:156-165.

Klusmann M, Owens C. HRCT in paediatric diffuse interstitial lung disease – a review for 2009. Pediatr Radiol (2009); 39 (suppl 3):S471-S481.



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