Neurological manifestations
Individuals with PCYT2-associated disorders can have a variable clinical phenotype. The first manifestations can appear from birth to the second decade of life and the severity is variable. The main manifestations can include:
Clinical manifestations:
- Patients may present hypotonia or rigidity of the body.
- Neurodevelopmental delay and intellectual disability. Cognitive decline. Normal intelligence in some cases.
- Axonal motor and sensory polyneuropathy (3rd decade of life)
- Ataxia (loss of muscle coordination)
- Recurrent seizures (epilepsy)
- Short stature
- Abnormal lateral curvature of the spine (scoliosis)
- Ophthalmologic manifestations: night vision deficit, abnormal ocular movements, cataracts
- Sensorineural hearing impairment (in some patients)
MRI abnormalities:
- Progressive cerebral and cerebellar atrophy
- White matter abnormalities
PCYT2