Paine syndrome
Overview
Paine syndrome is a rare genetic condition that is present at birth. Characterized by an undersized head and related abnormalities in the brain, the disease results in severe mental and physical retardation, movement disorders, and vision problems. Most infants with Paine syndrome do not survive their first year of life.
Symptoms
The most visible symptom of Paine syndrome is often the size of the head, which is smaller than normal. Affected infants may experience feeding difficulties or swallowing problems. They may not appear to be growing properly or may seem disinterested in their environment. The development of motor skills and speech is delayed. In simple terms, Paine syndrome causes structural abnormalities in the cerebellum, cerebrum, and other parts of the brain. The skull itself is abnormally small, due to the fact that its size is dictated by brain growth. Damage to the optic nerve may also occur. In addition, Paine syndrome produces elevated amino acid levels in the urine and cerebrospinal fluid.
Diagnosis
The disease is often diagnosed at birth when the size of the head is measured, though a small head circumference may be identified later during a routine exam if it is not detected shortly after delivery. Imaging procedures (such as an x ray, CT scan, or MRI) are used to identify the structural abnormalities of the brain and skull. Analyses of blood and urine are also performed. An electroencephalogram (EEG), a non-invasive test that measures the electrical activity of the brain, may be recommended to help assess developmental problems or detect relevant brain or nervous system abnormalities.
Prognosis
Due to its debilitating effects on the brain and nervous system, Paine syndrome is usually fatal within one year after birth.
Treatment
There is no cure for Paine syndrome. The changes in brain structure associated with the disease cannot be reversed. When possible, treatment focuses on alleviating symptoms. Anticonvulsants, for example, can be used to help control seizures; dextroamphetamine may also be prescribed to ease symptoms. In addition to drugs, orthopedic surgery is sometimes necessary. Family education and genetic counseling for parents is also recommended.