More than 2% of children with West syndrome, temporal lobe epilepsy, or Panayiotopoulos syndrome initially were misdiagnosed with gastrointestinal disorders, according to the results of a large single-center retrospective study.

Such misdiagnoses caused substantial diagnostic delays, increased the risk of cognitive deterioration, and exposed children to inappropriate radiation and invasive procedures, reported Giulia Carbonari and her associates at the University of Bologna, Italy.

The results of this study suggest that epileptic spasms of West syndrome often are misdiagnosed as symptoms of gastroesophageal reflux disease (GERD). Thus, clinicians should consider epilepsy in the differential diagnosis of atypical gastroesophageal reflux in young children, the researchers wrote. The report was published online in Epilepsy & Behavior.

Several recent case reports have described pediatric epilepsies that were misdiagnosed and treated as gastrointestinal (GI) disorders. To better frame the problem, the investigators reviewed the medical records of 858 consecutive children with epilepsy treated at their center between 2010 and 2015.

A total of 21 patients (2.4%) were initially misdiagnosed with GI disease. Most were younger than 1 year old. Notably, 7 of 27 children (26%) with West syndrome were misdiagnosed – in six cases with GERD, and in one case with infant colic. In addition, 10 of 24 children (42%) with temporal lobe epilepsy were misdiagnosed with GERD (five cases), recurrent abdominal pain (two cases), or cyclic vomiting, gastric pain, or dysfunctional elimination syndrome (one case each). Finally, 4 of 38 children (11%) with Panayiotopoulos syndrome were misdiagnosed with cyclic vomiting (three cases) or GERD (one case).

Misdiagnoses typically caused at least a 3-month diagnostic delay (interquartile range, 2-18 months), and half of misdiagnosed children received inappropriate abdominal ultrasonography, upper alimentary canal radiography, or esophagogastroduodenoscopy. Eight patients also received inappropriate antireflux therapy, and one patient underwent inappropriate surgery, the researchers said.

They shared tips for avoiding these misdiagnoses. Epileptic spasms of West syndrome involve brief contractions (flexion or extension) of the neck, trunk, and extremities, usually in clusters. Psychomotor slowing also is common. Seizures in temporal lobe epilepsy often involve automatisms, mental status changes, and changes in skin color, blood pressure, and heart rate. Signs of Panayiotopoulos syndrome include emesis, cyanosis, pallor, changes in intestinal motility, gaze deviation, hypotonia, confusion, and unresponsiveness.