The gut or the brain?—gastrointestinal misdiagnoses of infantile brain tumors

Purpose Central nervous system tumors account for the largest number of cancer deaths in childhood. Brain tumors in infants less than 3 years of age are rare; symptoms and signs are often non-specific. Patent anterior fontanelles/unfused cranial sutures in infants can accommodate rising intracranial pressure without acutely compromising the neurological status. We hypothesize that vomiting as the initial symptom, in infants with brain tumors, can possibly lead to extensive gastrointestinal evaluation, delaying the diagnosis of intracranial pathology. Methods We conducted a retrospective chart review of infants less than 3 years of age diagnosed with brain tumors over the period of 4.7 years from February 2008 to October 2012 at Inova Children’s Hospital, Virginia. Results We identified three of 21 patients (14.3 %) who presented with vomiting and underwent initial or extensive abdominal imaging investigations. All patients were relatively young (median age, 5.4 months). Working diagnoses were pyloric stenosis, viral gastritis, or gastroesophageal reflux. All patients eventually had computed tomography of the head to rule out increased intracranial pressure and were found to have large brain tumors with obstructive hydrocephalus. Tumor locations were cerebral hemispheres (2/3) and posterior fossa (1/3). All patients had biologically aggressive high-grade tumors (glioblastoma multiforme, atypical teratoid rhabdoid tumor, and anaplastic/large cell medulloblastoma) and died within weeks of diagnosis. Conclusions Our study highlights a clinical challenge of persistent vomiting in infants, which in the absence of convincing gastrointestinal pathology after evaluation should raise the physician’s suspicion of an underlying intracranial pathology even if neurological features are absent.