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

Abstract

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...

Role of Contrast-Enhanced Ultrasound (CEUS) in Paediatric Practice: An EFSUMB Position Statement

“…Splenic diffuse or focal pathology is difficult to characterize and differentiate on any imaging modality. Suitable indications in children are the differential diagnoses of splenic focal lesions (e. g. lymphoma, haemangioma [110], complex cyst and abscess) and vascular alterations such as splenic infarction, aneurysms and quantification of viable parenchyma in hyposplenia in sickle-cell disease [67]. In children, the percentage of inborn focal splenic lesions such as hamartoma or lymphangioma and the range of differential diagnoses due to metabolic diseases might be higher compared to adults.…”

Contrast-enhanced ultrasound of the spleen: an introduction and pictorial essay

“…The key to differentiating benign from malignant washout is related to timing, with malignant lesions washing out rapidly and benign pathologies generally showing later, more gradual washout. Examples of splenic haemangiomas demonstrating late phase washout have recently been described in the literature [ 18 ] and have been encountered in our practice (Fig. 1 ).…”

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

“…Splenic nodules in NPD type B histologically consist of dilated sinuses containing lipid-filled macrophages (Niemann-Pick cells), demonstrated by Giemsa stain. 16 However, the nodules can also be associated with the presence of hemangiomas, 16 , 26 areas of infarction, and lymphomas. 14 , 27 In our sample, all patients had hepatosplenomegaly, 3 of whom (23.7%) had hypodense splenic nodular lesions, which were revealed on HRCT.…”