An article from the Summer 2012 issue of MedStar Georgetown Pediatrics.
While some people believe in the patter of reindeer on roofs at Christmas, a doctor at MedStar Georgetown’s Pediatric Intensive Care Unit (PICU) imagined zebras. Her quick thinking led her to a startling, rare and accurate diagnosis.
Last December 24, Dr. Raquel Farias-Moeller, a second-year resident at the PICU, examined Izabella, a newly admitted 10-year-old patient. While many children and families were home preparing for holiday festivities and opening gifts, Izabella was in the hospital because of seizures. Her parents and extended family were at her bedside worried and heartsick.
Two days prior, Izabella was her typical self, excited with anticipation about the holidays and the break from school. Suddenly, Izabella experienced typical flu-like symptoms, a persistent cough and a fever. Her pediatrician prescribed antibiotics and cough medicine. Soon after, Izabella became very dizzy, had blurry vision and was bumping into furniture. “It just was not the typical flu,” described Rosa, Izabella’s mother. When Izabella fell in the bathroom, Rosa took her to the local hospital’s emergency department. While there, Izabella began convulsing; and the staff immediately transferred her to the pediatric unit at MedStar Georgetown.
The pediatric team performed an electroencephalogram (EEG), a common diagnostic test for people suspected of having seizures. The results were puzzling since Izabella appeared to be in “status epilepticus” or a life-threatening prolonged state of seizure. Then, she was transferred to the PICU where an MRI was performed. Meanwhile, Izabella was developing dangerous levels of lactic acid in her cells — a common bodily reaction to trauma such as seizures. Her kidneys were failing and she had a tube inserted into her mouth to help her breathe. Izabella’s fast-declining health couldn’t be diagnosed by the test results.
“It was a stressful time for all,” recalls Dr. Farias-Moeller. “The family, originally from Guatemala, is not fluent in English. It was Christmas, they expected to be home, and they anxiously wanted a diagnosis. Still, the camaraderie among the patient and MedStar Georgetown staff was amazing. Everyone pulled together, which yielded quick results.”
While reviewing the case on December 25, Dr. Farias-Moeller thought about the expression “when you hear hooves, think of horses and not zebras.” The saying prompts physicians to consider the most likely causes before jumping to unusual and rare conditions. However, Dr. Farias-Moeller thought of the unusual: MELAS, which is mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. MELAS is a very rare, chronic condition that affects 16 out of every 100,000 people and it often goes undetected. It affects many of the body’s systems, particularly the brain and nervous system (encephalo) and muscles (myopathy). Often, the signs of this disorder appear in childhood following a period of normal development and correlate with the description of Izabella’s symptoms and recent behavior.
Cesar Santos, MD, chief, Division of Pediatric Neurology and his team took Dr. Farias-Moeller’s lead and ordered the corresponding diagnostic tests. The results were conclusive: Izabella’s illness was MELAS.
Such teamwork and compassion were not surprising for this multidisciplinary and collaborative team which included a pediatric neurologist, nephrologist (kidney disease physician), an infectious disease specialist, intensive care doctors and nurses, various diagnostic clinicians, interpreters and physician residents. As Dr. Farias-Moeller says: “The more brain power goes into a case, the better for the patient and the family.” In addition, Dr. Farias-Moeller’s ability to speak Spanish to the family provided them with tremendous comfort.
Although Izabella and her family have a long medical path to follow and will need to learn how to manage the continuous effects of MELAS, they finally have the peace of mind that comes from receiving an accurate diagnosis.
As Dr. Farias-Moeller proved, sometimes there is no harm in thinking of zebras and for this, Izabella’s family is very grateful.