SESSION TITLE: Interstitial Lung Disease Cases
SESSION TYPE: Case Reports
PRESENTED ON: Saturday, March 22, 2014 at 09:00 AM - 10:00 AM
INTRODUCTION: A Niemann-Pick disease is caused by sphingomyelinase deficiency resulting in the accumulation of sphingomyelin in various cell types. Prognosis varies in accordance with organ involvement. The case presented relates to subtype B, characterized by visceral involvement and no neurological deficit.
CASE PRESENTATION: The authors present the case of a 49 year-old male patient diagnosed with Niemann-Pick disease subtype B (NPDB) in 2007 (investigation of hepatosplenomegaly). In May/2009 the patient was referred to the Pneumology Outpatient clinic due to erythrocytosis and altered lung function. He referred snoring as the only respiratory complaint and also denied constitutional symptoms. He is a non-smoker and counter clerk. The only relevant family history is parental consanguinity (first cousins). On physical examination the patient was flushed and eupneic; pulmonary auscultation was normal; abdomen revealed palpable hepatosplenomegaly.. Laboratory findings revealed erythrocytosis and altered liver function and lipids. Chest X-ray revealed deterioration compared to 2007, with appearance of bilateral reticular interstitial pattern, localized to the lower two thirds of the lung field, and increased cardio-thoracic index. To clarify these changes he underwent high resolution thoracic CT that revealed extensive ground glass opacities, predominantly of the middle and lower lobes and sparing a thin strip of subpleural space; interlobular septal thickening; some bullae in the left apex; and cardiomegaly. Lung function testing showed mild, reversible, bronchiolar obstruction, decreased CO diffusion and partial respiratory failure. The lowest oxyhemoglobin desaturation was 82% in the 6 minutes walk test and distance walked by the patient was 420 meters. A sleep study showed no sleep apnea. The bronchoalveolar lavage had a yellow-citrine tinge and histology revealed foamy histiocytes. The transbronchial biopsies confirmed the presence of small aggregates of foamy histiocytes and alveoli had slight sloughing of macrophages. Echocardiographic evaluation revealed dilated left atrium and right cavities; PSAP of 41mmHg; and good systolic function. The patient started supplemental long-term oxygen therapy.
DISCUSSION: Diffuse interstitial patterns, with impaired gas diffusion, are most commonly observed. Histology of BAL and TBPB typically reveals foamy histiocytes. We propose to remind of the clinical presentation of this disease and the need to include it in the differential diagnosis of interstitial lung disease.
CONCLUSIONS: Although a rare disorder pulmonary involvement in NPDB is common and can manifest at any stage of disease progression.
Reference #1: Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing. Radiology. 2006 Jan;238(1):339-45.
DISCLOSURE: The following authors have nothing to disclose: Ines Sanches, Cidália Rodrigues, Fátima Teixeira, Yvette Martins
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