MEDNIK syndrome

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MEDNIK syndrome

MEDNIK syndrome (pronounced: med-nik sin-drome) is a rare genetic disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. The syndrome was first described in 2008 and is caused by mutations in the AP1S1 gene.

Etymology

The term "MEDNIK" is an acronym derived from the main features of the syndrome: Mental retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, and Keratoderma. The syndrome is also named after the Kamouraska region in Quebec, Canada, where it was first identified.

Symptoms and Signs

Individuals with MEDNIK syndrome typically present with the following symptoms:

  • Mental retardation: This is a common feature of the syndrome and is usually severe.
  • Enteropathy: This refers to diseases of the intestine. In MEDNIK syndrome, it is typically characterized by diarrhea and malabsorption.
  • Deafness: This is usually sensorineural in nature, meaning it is caused by damage to the inner ear or nerve pathways from the ear to the brain.
  • Peripheral neuropathy: This refers to damage to the peripheral nerves, resulting in weakness, numbness, and pain, usually in the hands and feet.
  • Ichthyosis: This is a condition that causes dry, thickened, 'fish-scale' skin.
  • Keratoderma: This refers to thickening of the skin on the palms of the hands and soles of the feet.

Diagnosis

Diagnosis of MEDNIK syndrome is based on clinical features and confirmed by genetic testing showing a mutation in the AP1S1 gene.

Treatment

There is currently no cure for MEDNIK syndrome. Treatment is supportive and aims to manage symptoms. This may include special education for mental retardation, dietary modifications for enteropathy, hearing aids for deafness, medications for peripheral neuropathy, and skin creams for ichthyosis and keratoderma.

See Also

External links

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