Background: Recently, a new syndrome was diagnosed in the Sephardic Jews population. It was named PCCA (Progressive Cerebello-Cerebral Atrophy) after its classic neuroradiological findings. It`s an autosomal recessive inheritance. Known causative mutation is VPS53. PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) is a syndrome prevalent in Finland. It is also inherited in an autosomal recessive pattern. Known causative mutation is SEPSECS. In 2007 we diagnosed 2 siblings with PEHO based on clinical criteria. Recently, they were found to carry a mutated VPS53 gene.
Methods: Whole exome sequencing was done, followed by realtime PCR.
Discussion: In 2007 we diagnosed 2 Moroccan Jewish siblings, with PEHO, based on clinical criteria. They have progressive developmental encephalopathy, limb and facial edema, infantile spasms and optic atrophy. Brain MRI`s showed cerebellar and brainstem atrophy. PEHO is prevalent in Finland ancestry. Known causative mutation is SEPSECS.
IN 2003, PCCA was discovered in Moroccan and Iraqi Jews. This syndrome Criteria includes progressive microcephaly, spasticity, profound mental retardation and generalized seizures, but no dysmorphic features. Brain MRI`s demonstrate ongoing atrophy of cerebellum and cerebrum. Known causative mutation is VPS53.
Recently, the Israeli PEHO siblings were found to carry a mutated VPS53 gene. Comparing both syndromes reveals clinical and radiological similarities. With this genetic revelation it`s plausible to conclude these syndromes are actually one syndrome, sharing similar characteristics with specific criteria each.
Conclusions: Progressive Cerebello-Cerebral Atrophy (PCCA) and Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy (PEHO) share the same genetic and clinical spectrum and thus, are allelic syndromes.
