Neurology Expert Witness Evaluates Failure to Diagnose Brain Tumor

This case involves an eight-month-old infant female who presented to her pediatrician with obstructive hydrocephalus due to a brainstem pilomyxoid astrocytoma. Prior to the neoplasm, the patient was otherwise healthy, meeting all developmental milestones at appropriate dates. At each visit, the pediatrician recorded weight and head circumference percentiles. The head circumference was consistent with what would be a red flag for hydrocephalus. The mother then brought the patient back to the physician’s office with poor feeding, vomiting, inability to hold head up, irritability, and crying. The provider recorded the incident as “poor feeding” and did not recommend a neurological evaluation. The patient’s mother returned yet again as her condition further deteriorated, and only when the mother noted drooping of the eyelid did the physician recommend a CT scan and neurological consult (on a non-emergent basis). At the mother’s insistence, the neurologist saw the patient the next day. He noted irritability and inability to palpate the anterior fontanel. The patient was then admitted to the hospital and seen by a neurosurgeon, who performed a right frontal craniotomy removing most of the benign tumor, which relieved the blockage. The entire tumor was not able to be removed, needing further treatment with chemotherapy. Ongoing problems included the inability to stand, right sided weakness, and lingual nerve damage requiring feedings through a gastrostomy tube. Subsequently, the patient experienced developmental delays and hormonal issues.

Question(s) For Expert Witness

1. What are the initial signs and symptoms of brain tumors in infants and how do you diagnose them?

Expert Witness Response E-001149

Symptoms may be subtle and only gradually become worse, or they may occur very quickly. Headaches are probably the most common symptom, but are difficult to identify in infants. Signs such as irritability, poor feeding, excessive crying, and difficulty raising head should precipitate additional workup. The bones of an infant's skull are separated at birth to allow the baby's head to move through the birth canal. As the baby grows, the skull closes and the sutures fuse together at a soft spot in the skull known as the fontanelle. A baby with a brain tumor may experience increased fluid on the brain or increased pressure from the tumor that can cause the fontanelle to bulge. Even if a child doesn't have a tumor, when he is lying down, crying, or vomiting it may appear as if the fontanelle is bulging, but it returns to normal when the child is calm. In this case, the rapidly expanding size of the head was an obvious indicator of intracerebral obstruction. A malignancy is near the top of the differential diagnosis. Immediate action should have been taken to minimize damage to the CNS from the rapidly growing neoplasms.