PEHO syndrome

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PEHO Syndrome

PEHO syndrome (pronounced: pee-ho) is a rare neurological disorder. The term "PEHO" is an acronym derived from the main clinical features of the syndrome: Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy.

Etymology

The term PEHO syndrome was first described in 1991 by a group of Finnish researchers. The name is an abbreviation of the main clinical features of the syndrome.

Definition

PEHO syndrome is a rare neurological disorder characterized by progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. It is a severe condition that affects the central nervous system and can cause a variety of symptoms, including developmental delay, seizures, and visual impairment.

Symptoms

The main symptoms of PEHO syndrome include:

  • Progressive encephalopathy: This is a general term that refers to any type of brain disease that worsens over time. In the case of PEHO syndrome, this can include developmental delays and intellectual disability.
  • Edema: This refers to swelling caused by excess fluid trapped in the body's tissues. In PEHO syndrome, this can occur in various parts of the body, including the face and limbs.
  • Hypsarrhythmia: This is a specific type of abnormal brain wave pattern that is often seen in infants with severe epilepsy. It is characterized by a chaotic, disorganized pattern of electrical activity in the brain.
  • Optic atrophy: This is a condition that affects the optic nerves, which carry information from the eyes to the brain. Optic atrophy in PEHO syndrome can lead to vision loss.

Related Terms

See Also

References


External links

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