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Young boy with a long history of splenomegaly and cytopenia

Abstract

A 15-year-old boy was admitted with a history of cytopenia (white blood cell count 3.170/μm, platelets 90.000/μm) associated with splenomegaly, found during investigations for recurrent mild jaundice due to Gilbert’s syndrome.

He was in good general health, without systemic symptoms; therefore, the leading causes of asymptomatic splenomegaly were excluded. Coagulation, liver tests and abdomen ultrasound (US) were normal, showing a hepatopetal portal flow to the colour-Doppler. There was no sign of haemolysis on haematology investigations. The C reactive protein, immune globulins levels and erythrocyte sedimentation rate were normal, excluding both an infective and an immune regulation disorder. We excluded the haematological malignancy and lymphoproliferative disorders through a peripheral blood smear and a bone marrow biopsy.

His history was remarkable for neonatal sepsis, which required umbilical venous catheter during hospitalisation in a neonatal intensive care unit (NICU). The patient follow-up was interrupted for a while, probably due to his good health condition.

At age 17 years, the child accessed our emergency department. for a minor trauma to the limbs, and his physical examination was unremarkable, except for the splenomegaly. We repeated the abdomen US, with colour flow Doppler (figure 1).

Figure 1 B-mode shows 1.4 cm of maximum calibre of portal vein at hilus with slightly perihilar hyperechogenicity; colour and power Doppler US shows preserved hepatopetal flow and PSV of 41 cm/s (normal range 20–40 cm/s). PSV, peak systolic velocity; US, ultrasound.

  1. What is the most likely diagnosis?

    1. Portal vein obstruction

    2. Gaucher disease

    3. Autoimmune sclerosing cholangitis

    4. Leukemic hepatic infiltration

  2. What is the gold standard imaging for diagnosis?

    1. Abdomen Doppler US

    2. Contrast-enhanced CT

    3. CT without contrast

    4. Ultrasound-based elastography

  3. How should this child be managed?

    1. Upper gastrointestinal endoscopy

    2. Beta-blocker therapy

    3. Left-mesenteric portal vein bypass (Meso-Rex bypass)

    4. Transjugular intrahepatic porto-systemic shunt

Answers can be found on page 02.

  • general paediatrics
  • gastroenterology
  • hepatology
  • neonatology
  • paediatric practice

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