De Vivo disease

De Vivo disease, also known as Glucose Transporter Type 1 Deficiency Syndrome (GLUT1 DS), is a rare genetic disorder that affects the brain's ability to obtain glucose, its primary source of energy. This condition was first described by Dr. Darryl C. De Vivo in the early 1990s, hence the name De Vivo disease. It is characterized by a variety of neurological symptoms and signs, including epilepsy, developmental delay, movement disorders, and speech difficulties. The disease is caused by mutations in the SLC2A1 gene, which encodes for the glucose transporter protein type 1 (GLUT1), responsible for transporting glucose across the blood-brain barrier.

Symptoms and Diagnosis

The symptoms of De Vivo disease can vary widely among affected individuals. Common symptoms include seizures that are difficult to control with standard antiepileptic drugs, developmental delays, microcephaly (a condition where the head circumference is smaller than normal), spasticity, ataxia (lack of muscle coordination), and a complex movement disorder. Some individuals may also experience episodes of confusion, lethargy, or even coma, often triggered by fasting or exertion.

Diagnosis of De Vivo disease is based on clinical evaluation, the presence of characteristic symptoms, and diagnostic tests. The lumbar puncture to measure glucose levels in the cerebrospinal fluid (CSF) is a key diagnostic test, as individuals with this condition typically have a low CSF glucose concentration (hypoglycorrhachia) despite normal blood glucose levels. Genetic testing for mutations in the SLC2A1 gene confirms the diagnosis.

Treatment

There is no cure for De Vivo disease, but the condition can be managed with dietary therapy and, in some cases, medications. The ketogenic diet, which is high in fats and low in carbohydrates, is the primary treatment. This diet helps to provide an alternative source of energy for the brain, bypassing the defective glucose transport mechanism. Some patients may also benefit from antiepileptic drugs to control seizures, although the response to these medications can be variable.

Epidemiology

De Vivo disease is a rare condition, with an estimated incidence of 1 in 90,000 live births. However, the actual prevalence may be higher due to underdiagnosis or misdiagnosis of the condition.

Research

Research on De Vivo disease is focused on understanding the genetic and molecular basis of the disorder, developing more effective treatments, and improving diagnostic methods. Advances in gene therapy and molecular medicine hold promise for future therapeutic strategies.