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PEHO syndrome

How is it diagnosed?

The major diagnostic criteria for PEHO syndrome are changes in the brain originating in the cerebellum (cerebellar atrophy) and progressing to the brain stem. These may be identified by magnetic resonance imaging (MRI scan) or at post-mortem. A diagnosis of PEHO-like syndrome may be given to those infants who look similar to infants with PEHO syndrome but who may have milder clinical features. Brain scan investigations of infants with PEHO-like syndrome do not show the progressive cerebellar atrophy diagnostic of PEHO syndrome.

A number of conditions share similar features with PEHO syndrome including Joubert syndrome, autosomal recessive hypoplasia (Norman syndrome), olivo-pontine cerebellar atrophies and carbohydrate-deficient glycoprotein (CDG).

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text last updated September 2002. Written by Contact a Family and approved by Dr S Robb, Consultant Paediatric Neurologist, Hammersmith Hospital, London, UK.

 

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