PEHO-like syndrome

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

Epileptic encephalopathy



Total: 1

                      


(per page)
PMID (PMCID)
30392057
MIXED_SAMPLE Infant
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI.
Neurol Sci. 2019;40(2):299-303.
Uncharacteristic affected individuals are often classified as having PEHO-like syndrome, although they may be misdiagnosed as having epileptic encephalopathy, a potential result of early birth.