Niemann-Pick disease type B: HRCT assessment of pulmonary involvement

Abstract

Objective:To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. Methods:We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements were resolved by consensus. The inclusion criteria were presence of abnormal HRCT findings and diagnosis of NPD type B confirmed by histopathological examination of a bone marrow, lung, or liver biopsy specimen. Results:The most common clinical findings were hepatosplenomegaly and mild to moderate dyspnea. The most common HRCT patterns were smooth interlobular septal thickening and ground-glass opacities, which were both present in all patients. Intralobular lines were present in 12 patients (92.3%). A crazy-paving pattern was observed in 5 patients (38.4%), and areas of air trapping were identified in only 1 case (7.6%). Pulmonary involvement was bilateral in all cases, with the most affected area being the lower lung zone. Conclusions:Smooth interlobular septal thickening, with or without associated ground-glass opacities, in patients with hepatosplenomegaly is the most common finding in NPD type B.

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

“…Lung disease in ASMD consists of restrictive lung disease, decreased diffusion capacity and interstitial lung disease (ILD) with signs of pulmonary fibrosis, all as a result of SM accumulation [43,44]. Since ILD composes a large group of different diseases, linking the scientific knowledge of the pathogenesis of patients with ILD to ASMD is difficult.…”

“…High-resolution computed tomography (HRCT) is currently the most reliable technique to investigate (early) signs of ILD as a result of ASMD. Common findings in ASMD are a ground glass pattern, thickened interlobular septa and intralobular lines [43,44,67,[70][71][72][73]. Several studies showed that both HRCT and X-ray of the lungs display abnormalities indicating interstitial lung disease, but findings often do not correlate with impairment of lung function or clinical symptoms [66,70,74,75].…”

Manifestações clínicas presentes na doença de Niemann-pick tipo C em diferentes faixas etárias: uma revisão da literatura

“…A deficiência da enzima lisossômica esfingomielinase ácida resulta no acúmulo progressivo de esfingomielina nos hepatócitos, nas células reticuloendoteliais e, em casos graves, nos neurônios (CASSIMAN et al, 2016). Os sintomas são devidos ao acúmulo de macrófagos cheios de lipídios vacuolados, conhecidos como células Niemann-Pick, em vários órgãos, como fígado, baço, medula óssea, pulmão e sistema nervoso central (FREITAS et al, 2017).…”

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

“…3.1.4.12). The accumulation of vacuolated lipid-filled macrophages, known as Niemann-Pick cells, leads to the involvement of different organs: liver, spleen, bone marrow, lung and central nervous system (CNS) [2].…”

“…Both types A and B are caused by mutations in SMPD1 gene, unlike type C, which is caused by mutations in NPC1 and NPC2 genes. Diagnosis is performed by bone marrow (BM) biopsies revealing accumulation of lipid-filled macrophages, known as sea-blue histiocytes [2], or the demonstration of low sphingomyelinase activity in an enzyme assay of cultured skin fibroblasts or isolated leukocytes [1].…”