This is a severe heritable disorder of the nervous system found most commonly in Finland.
Infants are born of normal size but skull growth soon falls behind. There is often excess fluid (edema) seen in the face and limbs. Babies are weak and 'floppy' with poor muscle tone although their reflexes may be exaggerated in the limbs. They do not visually fixate on objects and this may be noted at birth or soon thereafter. The optic nerve is abnormally pale. Normal developmental milestones such as speech and sitting are not achieved. Infantile spasms can be seen soon after birth and some newborns develop generalized seizures. They feed poorly.
MRI imaging of the brain reveals lack of normal development in several brain structures (cerebellum and brainstem).
The family pattern of children with this condition suggests autosomal recessive inheritance that result from two mutations in a specific gene. Carriers such as parents do not have the neurological disease. However each of their children have a 25% risk of this condition.
This disorder has many clinical similarities to the PEHO-like syndrome described elsewhere in this database.
Pediatricians and neurologists are most likely to collaborate in the diagnosis which can be suspected in the neonatal period. An ophthalmologist can confirm the abnormal optic nerve and document the absence of vision.
There is no treatment for this congenital condition and children usually do not live beyond the first years of life. General supportive care should be given. Physical therapy may help in preventing joint contractures. Supplemental feeding should be considered.