Pulmonary involvement by Niemann–Pick disease. A report of six cases

Abstract

Niemann-Pick disease should be considered for any patient with unexplained diffuse endogenous lipid pneumonia, even when disease is limited to the lungs and presentation is during adulthood.

Morbidity and mortality in type B Niemann–Pick disease

“…19,20 Similarly, lung biopsies in adults with NP-B have shown endogenous lipid pneumonia, interstitial fibrosis, and accumulation of foamy macrophages. 21 Therefore, the lung is a target organ of the disease and contributes to the morbidity and mortality in patients with NP-B. Notably, two of the four oxygen-dependent patients in this series also required heart valve replacements, and all four are deceased.…”

Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease

“…These patients may also present with recurrent pulmonary symptoms and even die of acute pulmonary failure. Histologically, these clinical symptoms are associated with extensive pulmonary infiltration by lipid-laden macrophages that is referred to as "endogenous lipid pneumonia" (12)(13)(14)(15). If the affected children escape these hepatic and pulmonary complications, they invariably develop evidence of progressive neurodegeneration.…”

Niemann Pick C: First Case in a Canadian Nakoda Nation Child

“…In this case, the co-existence of EBV infection and the finding of mitochondrial cytopathy obscured the underlying diagnosis. However, clinical suspicion for NPC was aided by the characteristic pattern of pulmonary lipoid pneumonia 6 , which is seen in virtually all patients with advanced NPC due to NPC2 mutations, but also due to NPC1 mutations, and the lysosomal histopathology on nerve and skin biopsy 6 . Confirmatory studies from skin fibroblasts and mutation analysis returned only after her death.…”