Andermann syndrome

Individuals with Andermann syndrome may develop psychiatric symptoms such as depression, anxiety, agitation, paranoia, and hallucinations, which usually appear in adolescence. One study reported that after age 15 years, 39% of the individuals with Andermann syndrome in their study developed "psychotic episodes" characterized by paranoid delusions, depressive states, visual hallucinations, auditory hallucinations, or "autistic-like" features. In another study, the authors agreed that psychosis appears at the end of adolescence. They also stated that a significant difference was observed between males and females for age of onset of psychosis, with females developing psychosis at a younger age. Upon reviewing the available literature, although there appears to be evidence of "psychotic episodes", no information was found regarding whether the psychiatric symptoms are generally transient or if the symptoms typically continue during the life span of the affected individuals.

Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.