title: Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
abstract: We describe two sisters with a PEHO-like syndrome. The first-born had early epileptic spasms with hypsarrhythmia, visual inattention with optic atrophy, progressive microcephaly and absence of development. Cranial magnetic resonance imaging revealed periventricular white matter changes. Cerebellar hypoplasia, characteristic of true PEHO syndrome, was absent. The MRI changes were interpreted as periventricular leucomalacia due to prenatal ischaemia, and a low recurrence risk was suggested. Subsequently, the younger sister was born similarly affected. The PEHO syndrome (progressive encephalopathy, hypsarrhythmia and optic atrophy) is a rare, autosomal recessive, encephalopathy of infancy. Diagnosis is clinical but cerebellar hypoplasia on neuroimaging is regarded as an additional necessary criterion. A heterogeneous group of PEHO-like patients, who lack cerebellar hypoplasia but have varying supratentorial abnormalities, have been reported. This is the second report of siblings with a PEHO-like syndrome, and supports the existence of a distinct, autosomal recessive condition in which neuroimaging abnormalities may be misinterpreted.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ UK. c.longman@imperial.ac.uk
authors.forename: Cheryl
authors.initials: C
authors.lastname: Longman
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
authors.forename: Robert
authors.initials: R
authors.lastname: McWilliam
authors.forename: Alexander
authors.initials: A
authors.lastname: MacLennan
mesh_terms: D002545:Brain Ischemia / Q000175:diagnosis*; D002648:Child; D003951:Diagnostic Errors; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009896:Optic Atrophy / Q000503:physiopathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013036:Spasms, Infantile / Q000503:physiopathology*