Niemann-Pick Disease Presented with Cystic Lung Involvement

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Niemann-Pick disease.

doi:10.5152/tjh.2011.15 The peripheral blood smear is an easy, inexpensive, and very useful diagnostic method. Although some think that it has lost its importance following the development of new automated complete blood counts, the peripheral blood smear should remain a primary diagnostic tool for clinicians, especially pediatricians. Peripheral blood smears aid clinicians in choosing the appr...

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Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice [5], nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of...

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Pulmonary involvement in Niemann-Pick type B disease.

Bone marrow biopsy showed infiltration by numerous histiocytes. Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with the May-Grünwald-Giemsa stain (Figure 2). This histological pattern was indicative of Niemann-Pick disease. Confirmation of this diagnosis was obtained by lysosomal enzyme assay that showed undetectable sphingomyelina...

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

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 we...

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Niemann - Pick disease associated with hemophagocytic syndrome.

Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations. Niemann-Pick disease (NPD) is a very rare lipid storage disease. A three-month-old girl presented with high fever (39°C), abdominal distension and paleness. ...

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ژورنال

عنوان ژورنال: Eurasian Journal of Pulmonology

سال: 2015

ISSN: 2148-3620,2148-5402

DOI: 10.5152/ejp.2015.93063