Ultrasonographic features of Type B Niemann-Pick disease

Santoveña, S. Pastor; Fernández-Ramos, J.; González-Reimers, C.E.; Rodríguez, Lucrecia; Diaz-Ruidavets, M.C.; Comas, V.

doi:10.1016/0720-048x(93)90076-y

Cited by 3 publications

(1 citation statement)

References 7 publications

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“…Round echogenic splenic nodules, which are generally benign, are rarely seen with an incidence of about 1–5 in 10,000 cases . Hemangiomas, organized hematomas, cysts, abscesses, metastases, and some hematological disorders should be considered in the differential diagnosis . Clinical course, laboratory findings, and additional radiologic studies may help distinguish these conditions from NPD type B.…”

Section: Discussionmentioning

confidence: 99%

Echogenic splenic lesions in a child with type B Niemann–Pick disease

Adin

Önder

Alabalık

2012

J of Clinical Ultrasound

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We report the case of a 15-year-old boy with Niemann-Pick disease type B with characteristic sonographic findings of splenic involvement. There were multiple well-defined echogenic nodular lesions within the spleen parenchyma, and these lesions were surrounded by ring-like blood flow on color Doppler imaging. Most of the patients with Niemann-Pick disease type B are children and they undergo repeated imaging studies. Therefore, familiarity with sonographic findings of the disease is required.

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Section: Discussionmentioning

confidence: 99%

Echogenic splenic lesions in a child with type B Niemann–Pick disease

Adin

Önder

Alabalık

2012

J of Clinical Ultrasound

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The Spleen in Systemic Disorders

Vanhoenacker

Schepper

2000

Medical Imaging of the Spleen

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Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review

Ranke

Freitas

Mançano

et al. 2016

Lung

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Niemann-Pick disease is a rare autosomal recessive lysosomal storage disease with three subtypes. Types A and B result from a deficiency of acid sphingomyelinase activity, associated with the accumulation of lipid-laden macrophages (so-called Niemann-Pick cells) in various tissues, especially the liver and spleen. Type A is a fatal neurodegenerative disorder of infancy. Type B Niemann-Pick disease is a less severe form with milder neurological involvement, characterized by hepatosplenomegaly, hyperlipidemia, and pulmonary involvement; most patients live into adulthood. Type C Niemann-Pick disease is a complex lipid storage disorder caused by defects in cholesterol trafficking, resulting in a clinical presentation dominated by neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick disease, but most frequently in type B. Respiratory manifestations range from a lack of symptoms to respiratory failure. Progression of respiratory disease is slow, but inexorable, due to the accumulation of Niemann-Pick cells in the alveolar septa, bronchial walls, and pleura, potentially leading to a progressively worsening restrictive pattern on pulmonary function testing. Bronchoalveolar lavage has important diagnostic value because it shows the presence of characteristic Niemann-Pick cells. Radiographic findings consist of a reticular or reticulonodular pattern and, eventually, honeycombing, involving mainly the lower lung zones. The most common changes identified by high-resolution computed tomography are ground-glass opacities, mild smooth interlobular septal thickening, and intralobular lines. The aim of this review is to describe the main clinical, imaging, and pathological aspects of Niemann-Pick disease, with a focus on pulmonary involvement.

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Ultrasonographic features of Type B Niemann-Pick disease

Cited by 3 publications

References 7 publications

Echogenic splenic lesions in a child with type B Niemann–Pick disease

Echogenic splenic lesions in a child with type B Niemann–Pick disease

The Spleen in Systemic Disorders

Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review

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