PEHO-Like Syndrome

Background and History: 

This is a severe heritable disorder primarily of the nervsous system.

Clinical Correlations: 

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 present at birth or soon thereafter.  The optic nerve is abnormally pale.  Normal developmental milestones such as speech and sitting are not achieved and there is general developmental delay.  Infantile spasms can be seen soon after birth and some newborns develop generalized seizures.  They feed poorly.

MRI imaging of the brain a generalized maldevelopment of numerous 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, one contributed by each of the parents.  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 PEHO syndrome described elsewhere in this database.

Diagnosis and Prognosis: 

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 visual deficit.

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.

Additional Information
Autosomal recessive