Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing

Mendelson, David S.; Wasserstein, Melissa P.; Desnick, Robert J.; Glass, Ronald B. J.; Simpson, William; Skloot, Gwen; Vanier, Marie T.; Bembi, Bruno; Giugliani, Roberto; Mengel, Eugen; Cox, Gerald F.; McGovern, Margaret M.

doi:10.1148/radiol.2381041696

Cited by 117 publications

(113 citation statements)

References 13 publications

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“…Enlarged livers and spleens are the most consistent clinical findings, although respiratory complications may also be present [8] Patients usually have elevated levels of triglycerides and LDL-cholesterol, low HDL-cholesterol levels, and sometimes a history of coronary artery disease. Other possible Fig.…”

Section: Discussionmentioning

confidence: 99%

Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann–Pick disease: an atypical hemangioma enhancement pattern

Benedetti

Proietti

Miccoli

et al. 2009

Journal of Ultrasound

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KEYWORDSCEUS; NiemannePick disease; Nodular splenomegaly.Abstract Introduction: NiemannePick disease (NPD) types A and B are lipid storage disorders. NPD type A is a fatal disorder of infancy. Type B is a non-neuronopathic form observed in children and adults. It is associated with enlargement of the liver, spleen, or both, and nodular splenomegaly may be detected with ultrasound. Methods: A 21-year-old female was admitted to the Emergency Room with fever, pharyngitis, and left upper quadrant abdominal pain. Labwork revealed anemia, thrombocytopenia, increased levels of AST, ALT, GGT, AF, LDH, triglycerides, and total cholesterol and low levels of HDL-cholesterol. PCR blood assays for CMV and EBV were both negative. Chest X-ray was unremarkable. Transabdominal B-mode ultrasound (US) revealed splenomegaly (long axis: >22 cm), an irregular subcapsular hypoechoic lesion in the superior pole that was consistent with splenic infarction, and multiple round highly echogenic nodes measuring 1e5 cm in diameter. Contrast-enhanced ultrasonography (CEUS) was performed using SonoVue â (Bracco). Results: The presence of a splenic infarction was confirmed. The nodular lesions showed arterial-phase enhancement with late parenchymal phase wash-out. 18 F-FDG-PET revealed splenic * Corresponding author. Dipartimento di Oncologia, dei Trapianti e delle nuove Tecnologie in Medicina, Divisione di Ematologia Università di Pisa, Via Roma 67, 56126 Pisa, Italy.E-mail address: emilia@ipcf.cnr.it (E. Benedetti). nodular uptake. Primary splenic lymphoma was suspected, and the patient underwent open splenectomy. The diagnosis was type B NPD with splenic hemangiomas. Discussion: CEUS confirmed the diagnosis and extent of splenic infarction, but the nodular atypical enhancement pattern together with nodular 18 F-FDG-PET uptake was misleading, suggesting as it did lymphoproliferative involvement of the spleen.Sommario Introduzione: La malattia di Niemann-Pick (NPD) tipo A e B è una patologia da accumulo di lipidi. Il tipo A è un disordine fatale dell'infanzia. Il tipo B è una forma non-neuronopatica ossevata sia nei bambini che negli adulti con possibile riscontro di epatomegalia e/o splenomegalia (nodulare) durante un esame ecografico. Il tipo C dipende da un difetto nel trasporto del colesterolo. Metodi: Una donna di 21 anni si è presentata al Pronto Soccorso con febbre, faringodinia e dolore al quadrante addominale superiore sinistro. Gli esami ematochimici hanno evidenziato anemia, piastrinopenia, aumento delle AST, ALT, GGT, FA, LDH trigliceridi, colesterolo totale, e ridotto HDL. La PCR per CMV ed EBV era negativa. La radiografia del torace era negativa. L'ecografia transaddominale ha rilevato splenomegalia (>22 cm long axis) con una lesione ipoecogena irregolare subcapsulare al polo superiore compatibile con infarto splenico e la presenza di multiple lesioni nodulari iperecogene con diametro da 1 cm fino a 5. Risultati: È stata quindi eseguita una ecografia con mezzo di contrasto con SonoVue â (Bracco) che ha confermato la presenza di u...

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Section: Discussionmentioning

confidence: 99%

Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann–Pick disease: an atypical hemangioma enhancement pattern

Benedetti

Proietti

Miccoli

et al. 2009

Journal of Ultrasound

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“…In a French study of 13 children with Niemann-Pick disease types A, B and C, who were nevertheless selected based on their respiratory symptoms, chronic pulmonary disease or fatal respiratory failure were evident during the follow-up in all cases [24]. The clinical spectrum of manifestations includes wheezing, lower airways infections and reduced exercise tolerance [25]. In a study from Turkey the evaluation of bronchoalveolar lavage (BAL) or lung biopsy in type B disease showed abnormal macrophages (foamy cells or Niemann-Pick cells) which typically accumulate within the alveolar spaces, the lymphatic interlobular vessels and the sub-pleural spaces [26].…”

Section: Lysosomal Disordersmentioning

confidence: 99%

“…Patients with Niemann-Pick disease type B may be asymptomatic for years or have only mild dyspnoea on exertion, but in some cases a fatal pulmonary disease was described [24,26,28]. Diffuse interstitial and nodular infiltrates with basal predominance, as well as honeycombing on chest radiography, or ground-glass opacities on chest high-resolution computed tomography (HRCT), may be regularly found in young children and in adults with type B disease [24,25,29] even in the absence of functional abnormalities [30]. Patients with Niemann-Pick disease type C may have diffuse ILD as a presenting feature, or aspiration pneumonia because of neurological disease [23,31,32].…”

Section: Lysosomal Disordersmentioning

confidence: 99%

Respiratory manifestations in patients with inherited metabolic diseases

et al. 2013

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Growing evidence indicates that inherited metabolic diseases are increasingly being recognised. Life expectancy for many patients is progressively improving because new therapeutic strategies are available. Because most inherited metabolic diseases are systemic disorders, virtually all organs may be involved. Respiratory disease complicates the management of several inherited metabolic diseases, either at presentation or as late-onset features. This review will describe the most exemplary respiratory manifestations of inherited metabolic diseases in childhood and adulthood. Since airways disease worsens the morbidity of many inherited metabolic disorders, leading to increased hospitalisations, mortality and overall healthcare costs, respiratory manifestations of inherited metabolic diseases need to be carefully recognised and treated. All patients with inherited metabolic disease and suspected airway disease should undergo a detailed diagnostic work-up. Current treatments for several inherited metabolic diseases (including enzyme replacement therapy, substrate reduction, bone marrow transplantation, or even more innovative strategies such as pharmacological chaperone or gene therapies) may provide significant benefits for associated respiratory disease. The integration of several specialists dedicated to airway disease management in a multidisciplinary team is essential to provide the most appropriate care to children and adults with inherited metabolic disease. @ERSpublications Proper management of respiratory disease is mandatory for reducing morbidity and mortality of inherited metabolic disease

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“…Tip F deniz mavisi histiosit fenomeninin görüldüğü Niemann-Pick hastalığıdır (2). Hastanın kliniği sfingomyelinin biriktiği organa göre farklılık gösterir (1,3 Tip-E, erişkinlerde görülen formdur. Nöropatik tutulum genellikle görülmezken visseral tutulum sık görülür.…”

Section: Introductionunclassified

A rare cause of abdominal pain: massive splenomegaly and hypersplenism due to Niemann-Pick type-B

Arıkanoğlu¹,

Taşkesen²,

Aliosmanoglu³

et al. 2012

Gaziantep Med J

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ÖzetNiemann-Pick hastalığı otozomal resesif herediter lizozomal depo hastalığıdır. Tip A, B, C, D, E ve F olmak üzere 6 tipi vardır. Hastanın kliniği sfingomyelinin biriktiği organa göre farklılık gösterir. Tanı çoğunlukla çocukluk döneminde rutin muayenelerde saptanan hepatosplenomegalinin etiyolojisinin araştırılması sırasında konulur. Genellikle destekleyici tedavi uygulanır. Ancak hipersplenizm ve masif splenomegali gelişmiş ise rüptür gelişme riskinden dolayı splenektomi gerçekleştirilebilir. Bu yazıda çocukluk çağında Niemann-Pick tip-B hastalığı tanısı almış, masif splenomegali ve hipersplenizmli 16 yaşında erkek bir olgu, nadir olarak görülen bir hastalık olması nedeniyle sunulmuştur. Anahtar kelimeler: Hipersplenizm; Niemann-Pick hastalığı; masif splenomegali Abstract Niemann-Pick disease is a recessive, autosomal hereditary lysosomal storage disease. Six types of the disease have been identified (NPD types A, B, C, D, E, and F). Clinic of the patient varies depending on the organ in which sphingomyelin accumulates. The diagnosis is generally made during routine diagnostic tests performed in childhood while examining the etiology of hepatosplenomegaly. Supportive treatment is the mostly preferred treatment. However, splenectomy can be performed because of the risk of rupture if hypersplenism and massive splenomegaly develops. In the present article, a 16-year-old male patient with massive splenomegaly and hypersplenism diagnosed with Niemann-Pick disease type-B in childhood is presented due to the fact that it is a rare disease.

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Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing

Abstract: Although pulmonary function test indexes may be abnormal, imaging findings do not necessarily correlate with pulmonary function in patients with type B Niemann-Pick disease.

Cited by 117 publications

References 13 publications

Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann–Pick disease: an atypical hemangioma enhancement pattern

Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann–Pick disease: an atypical hemangioma enhancement pattern

Respiratory manifestations in patients with inherited metabolic diseases

A rare cause of abdominal pain: massive splenomegaly and hypersplenism due to Niemann-Pick type-B

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