Seventeen children with neurofibromatosis type 1 (NF1) and MRI evidence of brainstem tumor are reported from the Children’s Hospital of Philadelphia, PA. The mean age of diagnosis of NF1 was 55 months, and of brainstem tumor, 101 months. Headache was the most frequent complaint affecting 53%, motor incoordination (41%), cranial neuropathies (35%), dysarthria (29%), hemiparesis (12%), papilledema (12%), ataxia (12%), head tilt (12%), and seizures occurred in 6%. The primary tumor site was in the medulla in 82%, in contrast to the pontine location in non-NFl patients with brainstem tumor. Shunt placement for hydrocephalus was required in 41%, more frequent than in non-NFl patients. Only 18% had clinical signs of progression. At a median follow-up of 52 months, 15 of 17 were alive. [1]

COMMENT. Brainstem tumors in children with NF1 present with headache and cranial nerve palsies, they are often complicated by symptomatic hydrocephalus, are usually located in the medulla, and pathologically are benign or malignant astrocytomas, with variable outcome but usually prolonged survival. They can be distinguished from the typical NF-1 high-intensity foci on T2-weighted MRI (UBOs) by their mass effect and enhancement with gadolinium. Therapeutic intervention should be withheld pending evidence of progression, as determined by periodic neurologic examination and MRI. The authors estimated that 4% of their NF1 clinic population had a brainstem tumor.