Journal of Genetic Syndromes & Gene Therapy
Open Access

Sclerosing angiomatoid nodular transformation of the spleen: An unusual finding in paediatric population

2^nd World Congress on Rare Diseases and Orphan Drugs

June 29-30, 2017 London, UK

Godwin Oligbu, Indula Bopitiya, Praveen Saroey and Atra Ayad

St. Georges Hospital, UK
St. Georges University of London, UK
Imperial College, UK
Royal Marsden Hospital, UK

Posters & Accepted Abstracts: J Genet Syndr Gene Ther

Abstract :

Background: Sclerosing angiomatoid nodular transformation (SANT) is a rare and benign primary vascular lesion of the spleen with unknown aetiology and pathogenesis. Its diagnosis is often incidental and is characterised by numerous angiomatoid nodules, in fibrous tissue, within the red pulp of the spleen. The neoplasm has shown a predilection for adult females with cases in the paediatric population being exceptionally rare. Case Summary: We present an asymptomatic 14-year-old boy with incidental examination findings of scanty bruising and massive splenomegaly. Blood tests revealed pancytopenia with normal coagulation studies, raised C-reactive protein however normal erythrocyte sedimentation rate. Abdominal CT and ultrasound scans showed increasing splenomegaly (the largest size being 27cm) with one discrete focal lesion, small perihilar splenic lymph nodes and an enlarged splenic vein. The patient underwent splenectomy for diagnostic and therapeutic purposes with good long-term outcome and normalisation of the full blood count. Subsequent histological analysis revealed a prominent, nodular, 15 mm mass with slit-like or irregular shaped vascular spaces that was typical of SANT. Immunohistochemistry was positive for CD8, CD31 and CD34, which was in keeping with results found in previous cases. We also found D240 to be positive. The boy was also diagnosed with congenital retinoschisis and Scheuermann's disease of the spine. Conclusions & Significance: We identify common features, in the presentation, diagnosis and management of this rare condition in paediatrics, as well as documenting our own unique findings including normal erythrocyte sedimentation rate and D240 immunotyping. Although uncommon, SANT should be included in the differential diagnosis of children presenting with splenomegaly and a well circumscribed, hypovascular lesion on CT imaging. Long term follow up of this cohort of adult and paediatric patients is required to better understand the epidemiology of this condition.

Biography :

Godwin Oligbu is a competent and experienced Paediatrician with an extensive clinical background in General Paediatrics. He is very dedicated to a career within paediatric with an interest in paediatric infectious diseases and child public health. Over the last year, he has gained excellent experience in management of complex paediatric cases in St. George’s Hospital London and Queen Elizabeth Hospital, London. He is involved in a number of research projects and currently working on an Enhanced National Surveillance of Pneumococcal Meningitis in England and Wales.

Email: godwin.oligbu@nhs.net