A patient with hydranencephaly and PEHO-like dysmorphic features

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome is a rare, autosomal recessive neurodegenerative disorder primarily identified in Finland.
• PEHO-like syndrome describes patients with PEHO syndrome characteristics but without cerebellar atrophy, a key diagnostic criterion.
• Understanding rare neurodegenerative conditions is crucial for accurate diagnosis and management.

Observation:

• A patient presented with clinical features consistent with hypoxic-ischaemic encephalopathy.
• The patient also exhibited characteristics aligning with PEHO-like syndrome.
• This case highlights the overlap between different severe neurological conditions in infants.

Findings:

• The described patient case expands the clinical spectrum of PEHO-like syndrome.
• The findings suggest that hypoxic-ischaemic encephalopathy can present with features overlapping PEHO-like syndrome.
• This case underscores the importance of considering broader differential diagnoses in severe pediatric encephalopathies.

Implications:

• This case contributes to the understanding of rare neurodegenerative disorders and their phenotypic variability.
• Recognizing PEHO-like syndrome features in non-Finnish populations broadens its diagnostic scope.
• Further research is needed to elucidate the genetic and molecular underpinnings of PEHO-like syndrome and its relationship with hypoxic-ischaemic injury.