title: Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern.
abstract: BACKGROUND
  Niemann-Pick 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 1-5 cm in diameter. Contrast-enhanced ultrasonography (CEUS) was performed using SonoVue(®) (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 nodular uptake. Primary splenic lymphoma was suspected, and the patient underwent open splenectomy. The diagnosis was type B NPD with splenic hemangiomas.
  
  
  CONCLUSIONS
  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.
authors: Department of Oncology, Transplantation, and New Advances in Medicine, Hematology Division, University of Pisa, Italy ; Italian Society of Ultrasound in Medicine and Biology, School of Basic and Emergency Ultrasonography, Italy.
authors: E
authors: E
authors: Benedetti
authors: A
authors: A
authors: Proietti
authors: P
authors: P
authors: Miccoli
authors: F
authors: F
authors: Basolo
authors: E
authors: E
authors: Ciancia
authors: P A
authors: PA
authors: Erba
authors: S
authors: S
authors: Galimberti
authors: E
authors: E
authors: Orsitto
authors: M
authors: M
authors: Petrini
keywords: CEUS; Niemann–Pick disease; Nodular splenomegaly
references: Ann Oncol. 2003 Jan;14(1):123-30
references: 12488304
references: Australas Radiol. 1994 May;38(2):127-9
references: 8024506
references: Eur Radiol. 2001;11(1):80-95
references: 11194923
references: Radiology. 2006 Jan;238(1):339-45
references: 16304086
references: Ultraschall Med. 2008 Feb;29(1):28-44
references: 18270887
references: Eur J Radiol. 2007 Nov;64(2):189-201
references: 17920224
references: J Clin Endocrinol Metab. 2007 Sep;92(9):3590-4
references: 17609301
references: World J Surg. 2000 Feb;24(2):183-7
references: 10633145
references: Am J Hum Genet. 1992 Jul;51(1):111-22
references: 1609791
references: Chir Ital. 2005 May-Jun;57(3):283-91
references: 16231815
references: J Leukoc Biol. 2006 Dec;80(6):1183-96
references: 16997855
references: Eur J Radiol. 1991 Jul-Aug;13(1):59-66
references: 1889432
references: Clin Nucl Med. 2004 Jul;29(7):426-8
references: 15192467
references: Radiology. 2004 Jun;231(3):785-8
references: 15118114
references: Ultraschall Med. 2000 Feb;21(1):3-7
references: 10746277
references: Semin Hematol. 1999 Apr;36(2):148-54
references: 10319383
references: Semin Ultrasound CT MR. 2006 Oct;27(5):426-33
references: 17048457
references: J Inherit Metab Dis. 2007 Oct;30(5):654-63
references: 17632693
references: Ultraschall Med. 1990 Jun;11(3):119-22
references: 2200110
references: Ann Nucl Med. 2007 Sep;21(7):411-4
references: 17876555
references: J Pediatr. 2004 Jul;145(1):77-81
references: 15238911
references: Hum Mutat. 2005 Aug;26(2):164
references: 16010684
references: Abdom Imaging. 1995 Mar-Apr;20(2):157-60
references: 7787722
references: Eur Radiol. 2002 Dec;12 Suppl 3:S171-3
references: 12522633
references: Br J Radiol. 1987 Jul;60(715):655-60
references: 3304508
references: Cancer Res. 2006 Dec 1;66(23):11238-46
references: 17114237
references: Clin Radiol. 2004 Sep;59(9):777-92
references: 15351243
references: Radiographics. 2004 Jul-Aug;24(4):1137-63
references: 15256634