Weber–Sturge–Dimitri syndrome

Weber–Sturge–Dimitri syndrome is a rare neurological disorder characterized by a triad of symptoms: seizures, intellectual disability, and skin abnormalities. The syndrome was first described by Weber, Sturge, and Dimitri, hence the name.

Symptoms and Signs

The primary symptoms of Weber–Sturge–Dimitri syndrome include seizures, intellectual disability, and skin abnormalities. The seizures are typically generalized and can be severe. Intellectual disability ranges from mild to severe and is often accompanied by developmental delay. Skin abnormalities can include hypopigmentation, hyperpigmentation, and cutaneous lesions.

Causes

The exact cause of Weber–Sturge–Dimitri syndrome is unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in a gene involved in the development of the nervous system.

Diagnosis

Diagnosis of Weber–Sturge–Dimitri syndrome is based on the presence of the characteristic triad of symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Weber–Sturge–Dimitri syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include antiepileptic drugs for seizures, special education for intellectual disability, and dermatological treatment for skin abnormalities.

Prognosis

The prognosis for individuals with Weber–Sturge–Dimitri syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with the syndrome can lead fulfilling lives.

See Also

• Neurological disorders
• Genetic disorders
• Seizures
• Intellectual disability
• Skin abnormalities

NIH genetic and rare disease info

• NIH info on Weber–Sturge–Dimitri syndrome

Weber–Sturge–Dimitri syndrome is a rare disease.

Weber–Sturge–Dimitri syndrome Resources
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