ID #952 Neurofibromatosis-1-Associated Pediatric Glioma in Jordan: Clinical Presentation and Challenges
Ashjan Al Shakkah, Mona Mohammed, Mouness Obiedat, Maysa Al Hussaini, Bayan Maraqa, Nasim Sarhan, Ahmad KH Ibrahimi, Eric Bouffet, Nisreen AmayiriAbstract
Introduction
Children with Neurofibromatosis-1 (NF1) are prone to developing CNS tumors, particularly optic pathway gliomas (OPGs), which often follow an indolent course.
Methods
We retrospectively reviewed the medical records of children with NF1 and CNS tumors managed at King Hussein Cancer Center/Jordan (2011–2023), assessing their clinical characteristics, treatment modalities, and outcome. Visual acuity was categorized as: legal blindness (<20/200), impaired vision (20/200–20/40), or good vision (>20/40). Initial and follow-up brain MRIs were reviewed, with OPGs staged using Dodge classification (DC).
Results
Thirty-six patients were identified (M:F 0.9) fulfilling NF1 diagnostic criteria. Median age at referral was 5.4 years (range, 1.7–14.4). Fifteen patients (42%) had a parent with multiple café au lait spots (CAL), but most were unaware of NF1’s genetic basis or morbidities. Asymptomatic fourteen patients (39%) were diagnosed via screening MRI after CALs were recognized; four later needed treatment. Twenty-two patients (61%) presented with symptoms: 36% visual complaints, 11% gait disturbances and 14% other symptoms. Initial MRI scans identified 29 OPGs (DC-1 41%, DC-2 14%, DC-3 45%), 8 brainstem gliomas, and 3 other gliomas. Initial visual assessment in OPGs showed 34 eyes with good vision (59%),10 impaired VA and 14 blind eyes. Upfront surgery, chemotherapy or trametinib were utilized. With follow-up, ten patients (28%) needed further treatment. At a median follow up of 7.1 years (range, 0.8-14.9), two patients died from morbidities unrelated directly to their tumors and four lost to follow-up. At the last follow-up, most eyes (72%) had stable VA, four improved and four worsened. The last OPGs radiological follow-up showed tumor response (13), stable (14) and two progressed.
Conclusions
Most patients with NF-1 and OPG had stationary clinical and radiological course. Lack of awareness of NF1 symptomatology led to delayed diagnosis and significant visual impairment on referral while overutilization of screening MRIs in other patients. Targeted education for primary healthcare providers may improve earlier detection and result in better outcomes.