Failure to timely diagnose hydrocephalus

Presentation and physician action

On April 2, a 5-day-old girl was brought to a pediatrician’s office for her first well child visit. The patient was examined by a physician assistant (PA) under the supervision of the practice’s owner, Pediatrician A.

The results of this initial exam were documented as normal, but the patient was noted to be underweight with “malabsorption due to intolerance.” The patient’s mother was instructed to re-check the patient’s weight in one week and give the patient formula made for babies with sensitive digestion.

At six weeks old, two weeks before her scheduled appointment, the patient returned with  vomiting and watery stools. She was seen by the PA who again diagnosed  “malabsorption due to intolerance and diarrhea.”

The following summarizes the patient’s well child visits from two to 12 months of age.

• Two months: Pediatrician A documented the patient’s growth chart as: weight 25 percent; height 20 percent; and occipital frontal circumference (FOC) at 45 percent, with the circumference recorded as 41 cm. The physician also noted gastroesophageal reflux (GER), slow transit constipation, and mild congestion due to infant spit up and “weather/temperature changes.” He instructed the mother to feed the patient oatmeal only; not change to formula or other foods; continue humidifier and saline drops for congestion, and give the patient decongestant drops, as needed.
• Four months: the PA documented her weight had increased to 14 pounds, 11 ounces (51 percent); height 51 percent; and FOC at 77 percent. The patient was consuming 24 ounces per day. Her medications include esomeprazole and lactulose; a new prescription for ranitidine was added at this visit.
• Six months: Pediatrician A noted the patient weighed 16 pounds, 12 ounces (43 percent); height 22 percent; and FOC at 87 percent. She was eating 35 ounces per day with some solids without complaints.
• Nine months, Pediatrician A recorded that she weighed 19 pounds, 13 ounces (40 percent); height 25 percent; and FOC at 90 percent. The patient was consuming 40 to 48 ounces per day (approximately 6-8 ounce bottles, 6-7 times a day) and eating bananas and cereals but not many other foods yet. The mother reported the patient would often swallow food without chewing and then choke.
• 12 months: the patient weighed 20 pounds, 11 ounces (30 percent), height was 30 percent, and FOC was 73 percent, with the circumference recorded as 48 cm. The patient was consuming 20 ounces a day of formula for sensitive digestion mixed with whole milk, but no solid foods. She was also still experiencing choking, gagging, and constipation.

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At 14 months, the patient returned and was seen by the PA. The mother was concerned that the patient preferred to drink milk over food and would only eat very limited diet. The patient looked pale and had lost 10 ounces from the last visit at 12 months. A complete blood count (CBC) was ordered and the results were normal. The mother was advised to attempt cutting back on milk and adding more solid food.

At 15 months, the patient was returned to the office with vomiting for three days. She had lost two pounds since the last visit. Her weight was 17 pounds, 13 ounces. Pediatrician A ordered labs and an abdominal x-ray due to weight loss. The x-ray showed constipation; a laxative was prescribed and electrolyte solution recommended. Her head circumference was not measured at this visit.

Over the next three days, the patient continued to vomit. She was admitted to a hospital PICU and treated with IV fluids and laxative. Vomiting and weight loss continued. After three days in the hospital, she had lost 5 pounds and her head circumference was 52 cm. Her head circumfrence was 48 cm at her one-year well child visit.

During the hospital stay, a head MRI revealed hydrocephalus. Workup also showed major constipation and abnormal coagulation. The hospital’s neurosurgeon was reluctant to place a ventriculoperitoneal (VP) shunt due to possible platelet dysfunction and the patient’s abnormal coagulation.

One week later, the patient was discharged. Shunt placement was completed two months later. The patient has exhibited signs of speech delay, failure to grow, and other development delays.

Allegations

A lawsuit was filed against Pediatrician A and the PA with allegations of failure to timely diagnose hydrocephalus.

Legal implications

Pediatricians who reviewed this case for the defense were mixed in their assessment of this case. One felt that the patient did not show symptoms related to hydrocephalus until around her 13^th or 14^th month of age. Before 14 months, food aversion, constipation, and spit up are common, and the patient’s symptoms were not yet consistent with worsening hydrocephalus.

One consultant noted that hydrocephalus is not caused by any act or omission by a physician or by a delay in care. A delay in diagnosis may potentially affect the patient’s physical and cognitive development, but the seriousness of the condition would not be determined until the patient was approximately four years old.

These consultants pointed to the lack of concern from the patient’s mother about the patient’s behavior or enlarged head. The patient was also noted as having familial macrocephaly and lacking multiple symptoms that would suggest increased intracranial pressure, such as altered consciousness, upward gaze, visual disturbances, gait changes, swelling of optic nerve, or an inability to look left to right. The only symptom the patient exhibited was vomiting.

One critical consultant stated that the patient should have been referred for imaging at six months because her head circumference growth was greater than two cm per month and serial measurements consistently crossed head percentiles, suggesting the patient’s head was growing at faster than normal rate. (1)

 Pediatric consultants for the plaintiff were more critical of the care provided in this case. One consultant firmly believed that the patient indicated postnatal macrocephaly at three different visits to Pediatrician A’s office — at two months, four months, and six months. Head measurements warranted imaging and workup to determine the cause of the patient’s abnormal head size. Failure to make these observations and order studies directly delayed the diagnosis of hydrocephalus.

Disposition

The case was settled on behalf of Pediatrician A and the PA.

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Source:

1. Jones SG, Samanta D. Macrocephaly. StatPearls. Updated July 24, 2023. Available at https://www.ncbi.nlm.nih.gov/books/NBK560786/. Accessed June 2, 2025.

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