Failure to Diagnose Pediatric Hydrocephalus Leads to Tragic Results

Case Summary

This case involves a pediatric patient who received regular well-child visits. The mother raised concerns regarding the child’s head size and shape as well as possible neck and skull deformities. In the first year of the child’s life, the mother expressed developmental concerns, which the physician reportedly ignored. About two years later, the child received a diagnosis of cranial deformity along with a prominent brow, abnormal fontanelles, depression of the skull behind the frontal bones, and prominent frontal bones. MRI results revealed hydrocephalus with enlargements of the 4th, 3rd, and lateral ventricles.

Case Theory

For the brain to function properly, the brain must constantly produce cerebrospinal fluid (CSF). CSF cushions the brain inside the skull, acts as a shock absorber, carries nutrients to brain tissues, removes waste, and adjusts brain blood volume. Hydrocephalus occurs when excess CSF accumulates in the brain due to a medical condition that interferes with the flow and absorption of CSF. When CSF builds up in the brain, the ventricles expand, which causes the brain to swell. As a result of excessive fluid pressure against brain tissue, hydrocephalus occurs.

A delayed diagnosis and treatment of hydrocephalus are associated with a higher risk of negative outcomes. Outcomes include developmental delays and permanent brain damage in babies. Early diagnosis and treatment greatly increase the chances of a successful recovery. Early diagnosis allows treatment to begin sooner. Typically, a physician uses a shunt to divert CSF to an area of the body where it can be reabsorbed. This reduces the pressure on the brain.

During the first year of an infant’s life, a physician should measure the baby’s head circumference regularly. If a child’s head circumference increases in an abnormal percentile relative to other infants of the same age, a physician should suspect hydrocephalus.

Hydrocephalus is characterized by an unusually large head and bulging fontanels. The symptoms associated with hydrocephalus include vomiting, excessive sleepiness, irritability, seizures, poor feeding, developmental delay, and muscle weakness.

Medical malpractice may result from failing to diagnose hydrocephalus in infants in a timely manner. In this case, the mother provided ample information for an early diagnosis. The failure to screen is a violation of the standard of care. As a result of the delayed diagnosis, the child continues to have medical needs. Early diagnosis and intervention could have prevented long-term problems.

Expert Witness Q&A

Pediatric Neurosurgeon

• How might a delay in diagnosis of an enlarged head and reported developmental concerns impact a patient’s future needs in terms of shunt placement and related procedures?
• What additional care and sequelae can be expected in this case?
• Did a delay in diagnosis permanently affect the child’s future well-being?

Physician Assistant

• What measurements of growth should a physician take at a well-child visit? Is the failure to screen for an enlarged head a violation of the standard of care?
• What are some findings on well-child visit measurements that would prompt additional workup or referral?
• How should the physician have addressed the mother’s concerns?

Expert Witness Involvement

Pediatric Neurosurgery

An expert pediatric neurosurgeon can review the case and discuss the child’s ongoing shunt needs. This expert can opine on how an earlier intervention might have affected the child’s prognosis.

Physician Assistant

A physician assistant can opine on the standard of care for diagnosing possible hydrocephalus during well-baby screenings.

General Practice

A family medicine expert can speak to the standard of care in head circumference screening in infants. This expert can also testify to the need for referral of abnormal findings.