Background: Synchronous, multiple central nervous system (CNS) tumors are usually rare in pediatric patients. Pilocytic astrocytomas are the major type of CNS tumors in neurofibromatosis type 1 (NF1).
Case presentation: A 6.5-year-old boy was admitted to our hospital for severe emaciation. Profound fat and muscle wasting were the only prominent clinical features. His growth rate was preserved despite his rapid dramatic weight loss (HT: 118 cm, P. 0.50; WT: 16.5 kg P. 0.3, BMI: 11.9 kg/m2 <P. 0.4, T.J. Cole 1995). IGF1 value was low (45 ng/ml). Physical exam also showed two café-au-lait spots (0.5 cm) and scoliosis. No headaches, vomiting, seizures, ataxia, blurred vision, diplopia, nistagmus or signs of progressing into puberty were present. Adrenal and thyroid tests were normal. Serum electrolytes were normal as well. Tests for Crohn, celiac disease, HIV and other hematologic malignancies were negative. On magnetic resonance imaging of the brain, two concomitant large masses (5 cm each) were identified. The first mass had a diencephalic location (with wide hypothalamic involvement) while the second mass was located outside the optic pathway (extra optic pathway tumors/extra-OPT) in the posterior fossa (with extension towards the brainstem and 4th ventricle). Both proved to be pilocytic astrocytomas.
Conclusion: The same histological type in both tumors pointed out towards NF1 as the underlying medical condition even when the NIH diagnostic criteria for NF1 didnt seem to be met at the chronological age of the patient. In our case, the diencephalic syndrome (characterised by cachexia and preserved linear growth) might be considered the revealing metabolic signature of the hypothalamic tumor regardless of the paucity of the accompanying symptoms. Furthermore, even if the presence of two synchronous CNS tumors is certainly a rare event, this is not the case anymore in patients with NF1 regardless of the severity of their skin involvement.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology