The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
نویسندگان
چکیده
1 Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK 2 Department of Molecular Medicine and Medical Biotechnologies “DMMBM”, University of Naples “Federico II”, Naples 80131, Italy 3 CEINGE Biotecnologie Avanzate, Naples 80131, Italy 4 European School of Molecular Medicine, SEMM, University of Milan, Italy 5 King Saud bin Abdulaziz University for Health Sciences, Department of Pediatrics, Division of Genetics, Riyadh 14611, Saudi Arabia 6 Genetics and Rare Diseases Research Division, Ospedale Pediatrico “Bambino Gesù”, Rome 00146, Italy
منابع مشابه
CCDC88A mutations cause PEHO-like syndrome in humans and mouse
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, and there is an overlap with 'early infantile epileptic encephalopathy'. PEHO is considered to be recessive...
متن کاملPEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.
PURPOSE To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) symptom complex. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. METHODS Brain CT or MR studies were performed on 21 patients with ...
متن کاملSerial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. Disease onset is in early infancy. The current case report presents and discusses serial conventional MR imaging findings and serial functional studies including diffusion tensor imaging and quantitative MR spectroscopy findings in a 6-year-old child with PEHO.
متن کاملDiagnostic criteria and genetics of the PEHO syndrome.
The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorder of unknown biochemical background. Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible PEHO patien...
متن کاملPerioperative management of a patient with PEHO - Syndrome : Delayed recovery of neuromuscular blockade after rocuronium
The PEHO syndrome (progressive encephalopathy with brain, facial and peripheral edema, hypsarrhythmia and optic atrophy) is a very rare autosomal recessive disorder with progressive encephalopathy. For diagnosis and therapy, many patients may require deep sedation or even general anesthesia. There are no previous reports on the perioperative management in PEHO-patients. Distinct obstacles have ...
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