Successfully Completed Pregnancy in a Patient with SLC25A19-Associated Form of a Treatable Leigh-Like Syndrome

We report the case of a female patient presenting as Leigh-like syndrome due to a mutation in the gene SLC25A19, which is genetically and clinically different from SLC19A3-associated “biotin-responsive basal ganglia disease” (OMIM # 607483). Four offsprings of two Arabian families have been known to date presenting with this disorder. Clinical management during crises and management of the patient’s pregnancy and childbirth are illustrated.

The patient is the only child of distantly related German parents. During upper airway infections in infancy and childhood, the patient experienced four major episodes of acute encephalopathy including sopor, dystonia, severe weakness of lower extremities, and the necessity of tube feeding.

With physical therapy and experimental supplementation of carnitine and coenzyme Q, neurological symptoms resolved almost completely within several weeks. Brain MRI showed persistent bilateral striatal signal enhancement. During upper airway infections during childhood and adolescence, the patient experienced recurrent short episodes of paresthesias, weakness of her lower extremities, and cerebellar ataxia. Symptoms resolved within days.

During her pregnancy at age the age of 20 years, the patient experienced recurrent, more severe episodes of paraesthesia, weakness of her lower extremities, and cerebellar ataxia. A homozygous novel mutation in the gene SLC25A19 (c.580T>C) could be identified at 20th week of gestation.

Start of oral thiamine therapy led to resolution of the neurological symptoms within 3 to 5 days. With progression of pregnancy, the symptoms partially returned necessitating an increase of thiamine to as high as 3 × 500 mg/day.

The present case is the fifth patient with SLC25A19-associated bilateral striatal necrosis and neuropathy (#OMIM 613710) and the first documented case of a successfully completed pregnancy and childbirth with thiamine transporter deficiency under treatment.