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Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Nerve Atrophy (PEHO)-Like Syndrome: What Diagnostic Characteristics Are Defining?

Department of Pediatric Neurology ,Istituto Neurologico C. Besta, Milan, Italy

Bruzzone Maria Grazia, MD

Department of Neuroradiology, Istituto Neurologico C. Besta, Milan, Italy

Francesca Faravelli, MD

Human Genetics Laboratory, Galliera Hospital, Genoa, Italy

Daria Riva, MD

Department of Pediatric, Neurology Istituto Neurologico C. Besta, Milan, Italy

Chiara Pantaleoni, MD

Department of Pediatric Neurology,Istituto Neurologico C. Besta, Milan, Italy, pantaleoni{at}istituto-besta.it

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual deficit, early arrest of psychomotor development, seizures, and cerebellar atrophy. A condition similar to PEHO syndrome, but without the neuroradiologic or ophthalmologic signs, is known as PEHO-like syndrome. We present the case of a child with PEHO-like syndrome and underline the need for a careful follow-up of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy. (J Child Neurol 2005;20:454—456.)

Journal of Child Neurology, Vol. 20, No. 5, 454-456 (2005)
DOI: 10.1177/08830738050200051801


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