Poster # 306 PRF1-Related familial hemophagocytic lymphohistiocyctosis in a Pakistani family: Importance of molecular testing

Document Type



Paediatrics and Child Health


Background: Posterior reversible encephalopathy syndrome (PRES) is associated with a range of medical conditions and medications.
Objectives: In this retrospective analysis we attempted to identify predisposing factors for PRES in children with cancer on chemotherapy.
Design/Method: We identified 19 patients, 4 females and 15 males. These patients were diagnosed with PRES on clinical and radiological features. Patient charts were reviewed from January 2013 to June 2016 after authorization from the Institutional review board (IRB).
Results: The average age of patients with PRES was 7-years. Primary diagnosis of these patients included non-hodgkin lymphoma (n = 9), acute pre-B-leukemia (n = 5), relapsed pre-B-leukemia (n = 2), hodgkin-lymphoma (n = 2) and Ewing sarcoma (n = 1). PRES occurred during induction chemotherapy in 12 patients. Sixteen patients had hypertension when they developed PRES. Most of these patients (n = 14) were on steroids when they were diagnosed with PRES. Common clinical features included hypertension, seizures and altered mental status. Excluding 3 patients all others required anti-epileptic therapy. 10 of these patients got re-imaged with an MRI. Ten of our patients are still alive.
Conclusion: PRES is becoming a commonly recognized complication in pediatric patients with cancer. Patients presenting to our center with signs and symptoms of hypertension, seizures, visual loss or altered mental status get an MRI. PRES was mostly seen in patients undergoing systemic induction chemotherapy, intra-thecal chemotherapy and on steroids. Despite reversal of clinical and radiological findings most patients could not be weaned off anti-epileptics.

Publication (Name of Journal)

Pediatric Blood & Cancer