Rethinking Seizure Care Blog

Misdiagnosis of Pediatric Epilepsy as Gastrointestinal Disorders

Posted by RSC Diagnostics on Aug 20, 2021

A little baby on sheet in his bed room-1

Over the course of the last few years, there have been several cases of pediatric epilepsy originally misdiagnosed as a type of gastrointestinal disorder. The misdiagnoses were typically associated “West syndrome and non-convulsive focal epilepsies and abdominal and autonomic symptoms, such as in temporal lobe epilepsy and in Panayiotopoulos syndrome.”

How Could Misdiagnosis Happen?

It is a type of epilepsy that is generally going to develop in the first year of a child’s life. Those who suffer will often have spasms, and they will have EEG patterns called hypsarrythmia. If this issue is not discovered quickly and treated, there is a very good chance that it will lead to the deterioration of the cognitive abilities. There have been instances where West syndrome has been misdiagnosed as gastroesophageal reflux disease, or GERD.

Temporal lobe epilepsy can occur through all ages. When these seizures occur in infants, they are typically going to show as flushing, apnea, or orobuccal automatisms. When older children are affected by temporal lobe epilepsy, they are generally going to suffer from nausea, epigastric pain, and they may also become fearful, even panicking and suffering from “intense autonomic phenomena.”

The signs and symptoms that those patients are suffering can sometimes lead to the wrong diagnosis. The doctors might tell the family that the patient has recurrent abdominal pain rather than discovering the real cause. Because “malformations of cortical development” and tumors tend to be the most common etiologies in young patients, it is extremely important that they have an accurate and early diagnosis.

Panayiotopoulos syndrome is a benign age-related focal seizure disorder occurring in early and mid-childhood. The average age of children who are suffering from this condition is between four and five. When their seizures start to occur, they will generally cause the young patient to start to feel sick and nauseous. This could begin vomiting in some cases. Some of the other common symptoms include loss of consciousness and deviation of the eyes.

Because those symptoms of Panayiotopoulos syndrome tend to be subtle, it often means that they are also quite easy to overlook, which could lead to a misdiagnosis. They are sometimes diagnosed with issues such as GERD, sleep disorders, cyclic vomiting syndrome and gastroenteritis.

Results of the Research

Researchers were interested in just how many times these misdiagnoses were happening with patients, so they began to look at all of the instances they could find. They found that there were 21 out of 858 patients with epilepsy who had a misdiagnosis of a GI disease, or 2.4% of their total sample. The median diagnostic delay was for three months, with the interquartile range being two to 18 months. This means the patients were not getting the proper treatment they needed.

According to research published in Epilepsy & Behavior, those who had West syndrome and were misdiagnosed were often diagnosed with GERD, but there was one case where the doctors blamed infant colic rather than West syndrome. In the case of temporal lobe epilepsy, there were five patients misdiagnosed with GERD, two misdiagnosed with recurrent abdominal pain, one with cyclic vomiting, one with gastric pain, and one with dysfunctional eliminations syndrome. There were four suffering from Panayiotopoulos syndrome, and they were misdiagnosed with cyclic vomiting in three cases and GERD in one case.

Better and Proper Diagnosis Needed

When a child has epilepsy and they are misdiagnosed, it can have some terrible consequences, and it means that they are not going to get the treatment they need. Delays could mean a less favorable neurologic outcome. Doctors must strive to make sure they are making the proper diagnosis and eliminating all of the possibilities until they find the real cause of the problem.




Topics: Diagnosing Epilepsy