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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings
S Fujimoto1, K Yokochi, M Nakano
1Department of Pediatrics, Nagoya City University Medical School, Japan.
Insights
This study details two Japanese siblings with Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) syndrome. The findings highlight early infantile spasms, visual failure, and brainstem atrophy in this rare genetic disorder.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) syndrome is a rare, severe genetic neurodegenerative disorder.
- Previous case reports have primarily focused on affected individuals of Finnish descent.
Observation:
- Two Japanese siblings, a male and a female, presented with PEHO syndrome.
- Early infancy symptoms included profound generalized hypotonia, infantile spasms with hypsarrhythmia, abnormal eye movements, and visual failure.
- Optic atrophy was evident early in infancy.
Findings:
- The siblings exhibited arrested psychomotor development.
- Serial neuroradiological studies revealed slight, progressive brain atrophy, predominantly affecting the brainstem.
- This report marks the first description of PEHO syndrome in a Japanese population.
Implications:
- This case study expands the known geographical and ethnic distribution of PEHO syndrome.
- It underscores the importance of recognizing PEHO syndrome's diverse clinical manifestations and genetic basis.
- Further research into the genetic underpinnings and potential therapeutic strategies for PEHO syndrome is warranted.
Abstract:
We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement and visual failure with optic atrophy were also observed early in infancy. Psychomotor development was arrested and serial neuroradiological studies showed slight progressive brain atrophy, dominantly of the brainstem. This is the first case report of PEHO syndrome, other than those dealing with the Finnish population.