Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a genetic neurodevelopmental disorder that is characterized by abnormally small head size, abnormal brain ridges, severe epilepsy (seizures), and infantile diabetes.
Symptoms of MEDS appear at birth and include smicrocephaly, developmental delay, hypotonia (low muscle tone in babies), myoclonic (involuntary muscle contractions) and/or tonic-clonic seizures (violent convulsions and loss of consciousness), hypsarrhythmia (abnormal brain activity), and diabetes (chronically high blood sugar). Skeletal abnormalities such as weak/slender bones and pathologic fractures (bone fractures caused by disease) have also been associated with MEDS. Most cases of MEDS result in death by early childhood.
MEDS is caused by a mutation in the IER3IP1 gene on chromosome 18. Genes are made up of DNA that help create proteins responsible for normal bodily and cellular functions. Genes are passed down from parent to child, and the IER3IP1 gene is passed down in an autosomal recessive manner, meaning MEDS both parents must pass on a mutated gene for their child to have the disease.
Diagnosis of MEDS typically begins with a physical examination in which microcephaly and seizures are reported. Diabetes is diagnosed with a blood test to check for elevated blood sugar levels. Abnormal brain ridge patterns and activity can be observed with tests like an MRI or EEG. Genetic testing may be available to confirm the IER3IP1 genetic mutation associated with MEDS.
There is currently no cure for MEDS – and most symptoms are individually treated. In many cases, the infantile diabetes associated with MEDS is extreme and must be treated aggressively with regular insulin therapy and blood sugar monitoring. Symptomatic seizures may also be treated with anticonvulsant or antiseizure medication.
If you or a family member have been diagnosed with MEDS, speak with your doctor to learn more information.
Description Last Updated: Aug 22, 2018