ORIGINAL ARTICLESCranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndromeLongman, Cheryla; Tolmie, Johna; McWilliam, Robertb; MacLennan, AlexandercAuthor Information aDuncan Guthrie Institute of Medical Genetics bFraser of Allander Neurosciences Unit cDepartment of Radiology, Royal Hospital for Sick Children, Glasgow, G3 8SJ, UK Correspondence and requests for reprints to Cheryl Longman, Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ, UK Tel: +44 1412 010365; fax: +44 1413 574277; e-mail: [email protected] Received 20 May 2002 Accepted 1 January 2003 Clinical Dysmorphology: April 2003 - Volume 12 - Issue 2 - p 133-136 Buy 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. © 2003 Lippincott Williams & Wilkins, Inc.