RT Journal Article
SR Electronic
T1 Young boy with a long history of splenomegaly and cytopenia
JF Archives of disease in childhood - Education & practice edition
JO Arch Dis Child Educ Pract Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP edpract-2019-318626
DO 10.1136/archdischild-2019-318626
A1 Laura De Nardi
A1 Chiara Zanchi
A1 Luca Basso
A1 Daniela Sanabor
A1 Grazia Di Leo
A1 Egidio Barbi
YR 2020
UL http://ep.bmj.com/content/early/2020/10/15/archdischild-2019-318626.abstract
AB 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.What is the most likely diagnosis?Portal vein obstructionGaucher diseaseAutoimmune sclerosing cholangitisLeukemic hepatic infiltrationWhat is the gold standard imaging for diagnosis?Abdomen Doppler USContrast-enhanced CTCT without contrastUltrasound-based elastographyHow should this child be managed?Upper gastrointestinal endoscopyBeta-blocker therapyLeft-mesenteric portal vein bypass (Meso-Rex bypass)Transjugular intrahepatic porto-systemic shuntAnswers can be found on page 02.