Head Trauma May Have Triggered Late-onset Leigh Syndrome in Teenage Girl, Doctors Report

Joana Fernandes, PhD avatar

by Joana Fernandes, PhD |

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Leigh syndrome

Iranian doctors have shared the case of a 14-year-old girl who developed and died of Leigh syndrome (LS) after suffering a head trauma in school.

Their study, “Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: A Case Report,” appeared in the journal Emergency.

LS, a rare genetic disorder associated with mutations in mitochondrial and nuclear DNA, usually affects babies and is diagnosed in the first year of life. Clinical manifestations of this disease include progressive loss of the ability to move as well as seizures, hypotonia (low muscle tone), dystonia (abnormal muscle tone), gait disturbance and respiratory failure. Patients also have neurodegenerative lesions in one or more brain regions including the basal ganglia, thalamus, brainstem and cerebellum.

Previous cases of LS patients were reported without any trigger before the onset of symptoms.

In this case, the girl developed symptoms linked to LS after suffering an undisclosed head trauma in a sports class at school. She had a generalized seizure, followed by an “altered state of consciousness” for about a minute, her parents told doctors. The girl was brought to Tehran’s Shohadaye Tajrish Hospital, where doctors prescribed her the anti-epileptic drugs lamotrigin and phenytoin. Both were discontinued as symptoms improved.

Two months later, however, she developed ataxia, walking difficulties and generalized weakness. At that time, her neurological examinations revealed no anomalies except certain muscular changes. In addition, magnetic resonance imaging revealed the presence of brain lesions.

Doctors believed the patient had metabolic disease and treated her with a mitochondrial cocktail (Co Q10, Vitamin B1, L-Carnitine and B-complex), which improved her neurological condition. Two weeks later, she returned to the hospital with respiratory distress. Her neurological examination showed left eye deviation and generalized weakness. Doctors intubated the girl and put her on supportive therapy, but she went into cardiac arrest and died despite attempts to resuscitate her.

Three days after her death, a genetic analysis showed that the girl had carried a mutation (35 del G) associated with LS, which confirmed the diagnosis of late-onset LS.

“In this case, the most interesting aspect was the head trauma as a possible precipitating factor in developing seizure and other symptoms in a previously normal child that finally led to diagnosis of LS,” doctors wrote. “Up to now, few cases have been reported who developed neurological disorders with underlying gene mutation following head trauma. Our case, together with previous case reports raised the possibility of trauma being a precipitating factor in developing or progression of mitochondrial disorders.”