Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: Report of a case

Chen, Zihua; Chen, Zhikang; Wu, Shaobin; Wang, Xianwei

doi:10.1007/s00595-007-3641-2

Cited by 7 publications

(6 citation statements)

References 12 publications

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“…Some experimental approaches including bone marrow transplantation, total lung lavage and amniotic cell transplant have been attempted but do not have a favorable benefit/risk ratio owing to their uncertain impact on short- and long-term disease outcomes and considerable risk of complications [ 2 ]. Splenectomy may be required in cases of extensive spleen necrosis with loss of function [ 54 ] or rupture [ 55 , 56 ]; however, it is generally not recommended as it may exacerbate pulmonary disease [ 36 ]. Thus, management of patients with ASMD is limited to supportive care and palliation, which requires a multidisciplinary approach [ 9 ].…”

Section: Therapeutic Optionsmentioning

confidence: 99%

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

McGovern

Avetisyan

Sanson

et al. 2017

Orphanet J Rare Dis

128

176

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Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely. Almost all patients have hepatosplenomegaly and an atherogenic lipid profile, and most patients have interstitial lung disease with progressive impairment of pulmonary function and hematologic abnormalities including cytopenias. Other common clinical manifestations include liver dysfunction, heart disease, skeletal abnormalities and growth delays. Some patients with ASMD who survive beyond early childhood have intermediate phenotypes (variant NPD B) characterized by combinations of non-neurologic and mild to severe neurologic symptoms. The physical and psychosocial burden of illness in patients with NPD B is substantial. Common symptoms include shortness of breath, joint or limb pain, abdominal pain, bleeding and bruising. The disease often leads to chronic fatigue, limited physical or social activity and difficulties in performing daily activities or work. Many patients die before or in early adulthood, often from pneumonia/respiratory failure or liver failure. Available treatments are limited to symptom management and supportive care. An enzyme replacement therapy currently in clinical development is expected to be the first treatment addressing the underlying pathology of the disease. Early diagnosis and appropriate management are essential for reducing the risk of complications. While knowledge about ASMD is evolving, more evidence about ASMD and the natural history across the disease spectrum is needed, to improve disease recognition, timely diagnosis and appropriate disease management.

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Section: Therapeutic Optionsmentioning

confidence: 99%

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

McGovern

Avetisyan

Sanson

et al. 2017

Orphanet J Rare Dis

128

176

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“…1 There are also sporadic reports of SSR caused by Niemann-Pick disease, an inherited metabolic disorder. 2 On the other hand, Bacillus species (sp.) rarely cause serious systemic infections because Bacillus bacteremias are usually eradicated easily by removal of an infected intravascular device and antibiotic therapy.…”

Section: Introductionmentioning

confidence: 99%

Spontaneous rupture of the spleen caused by a Bacillus infection: Report of a case

et al. 2009

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We report a case of spontaneous splenic rupture (SSR) caused by a Bacillus species (sp.) infection. A 36-year-old man on warfarin therapy since an aortic valve replacement at the age of 13 was admitted to our hospital with a 3-week history of a high fever. He had been asymptomatic until 4 months previously, when he suffered a cerebral embolism despite adequate oral anticoagulation. Abdominal computed tomography revealed splenic infarctions, which resulted in splenic rupture 2 days later. After embolization of the splenic artery, splenectomy was successfully performed. Pathologic examination revealed splenic infarction, resulting from septic emboli, with associated rupture of the splenic capsule, but no abscess was found. Bacillus sp. was isolated from cultures of arterial blood preoperatively, and the excised splenic specimens, postoperatively. In addition to rupture of the suppurating intrasplenic vessels with hematoma formation, the anticoagulant therapy possibly contributed to distension of the intrasplenic hematoma.

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“…Eğer kemik iliği ve karaciğer biyopsilerinde köpüklü makrofajlar gösterilirse tanı için yeterlidir (5,7,8). Çocuk yaşlardan itibaren splenomegali nedeniyle takipte olan hasta kemik iliği biyopsisi ile NPH tanısını almıştı.…”

Section: Introductionunclassified

“…Ancak cerrahi tedavi, gen tedavisi ve enzim replasmanı üzerinde çalışmalar yapılmaktadır. Organ nakli ile sınırlı başarı elde edilmiştir (1,5,8,10). Cerrahi tedavinin gerekliliği, zamanlaması ve hastalığın prognozuna etkisi konusunda net bir bilgi yoktur.…”

Section: Introductionunclassified

“…Literatürde NPH tip-B'de splenomegaliye bağlı spontan rüptür gelişen olgular tanımlanmaktadır. Masif splenomegali ile birlikte hipersplenizm gelişen hastalarda bu risk daha yüksektir (5,(11)(12)(13)(14). Bu nedenle masif splenomegali ve hipersplenizm gelişen hastalarda rüptürü ve buna bağlı gelişebilecek komplikasyonları önlemek için splenektominin yararlı olabileceğini düşünmekteyiz.…”

Section: Introductionunclassified

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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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Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: Report of a case

Cited by 7 publications

References 12 publications

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

Spontaneous rupture of the spleen caused by a Bacillus infection: Report of a case

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

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