J Child Neurol. 2005 May;20(5):454-6.

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C.

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

Abstract

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.

PMID:: 15968934; [PubMed - indexed for MEDLINE]

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Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). [Epilepsia. 1993]
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome).
Somer M, Sainio K. Epilepsia. 1993 Jul-Aug; 34(4):727-31.
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Somer M, Salonen O, Pihko H, Norio R. AJNR Am J Neuroradiol. 1993 Jul-Aug; 14(4):861-7.
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Fujimoto S, Yokochi K, Nakano M, Wada Y. Neuropediatrics. 1995 Oct; 26(5):270-2.
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Hollódy K, Kollár K. Orv Hetil. 1997 Feb 16; 138(7):425-8.
Review The PEHO syndrome. [Brain Dev. 2001]
Review The PEHO syndrome.
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