| PEHO syndrome: a study of five Argentinian patients. | |
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MedLine Citation:
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PMID: 21397166 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe two familial and three nonfamilial cases from Argentina, examined between February 1, 1990-July 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. All five children were products of normal gestation, although one was premature. Birth was uneventful in all patients. Two patients were twin brothers. During their first neurologic examination, between ages 2-6 months, patients presented with facial dysmorphia, poor visual contact, and generalized hypotonia with poor head control. Microcephaly and swelling of the dorsum of the hands and feet were evident. Hypsarrhythmia was observed in all patients (associated with epileptic spasms in four). Optic atrophy was evident in four cases. Magnetic resonance imaging indicated progressive cerebellum and brainstem atrophy in all cases. Toxoplasmosis, others, rubella, cytomegalovirus, herpes (TORCH), neurometabolic investigations, and karyotype studies produced normal results in all patients. Progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome should be considered in infants with neonatal hypotonia, early onset of seizures (especially epileptic spasms), hypsarrhythmia, early loss of visual fixation, profound psychomotor retardation, typical dysmorphy, and progressive cerebellar and brainstem atrophy without a clear etiology. Autosomal recessive inheritance is suspected. Early diagnosis is important for adequate genetic counseling. |
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Authors:
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Roberto Horacio Caraballo; Adriana Norma Pozo; María Gomez; Marcos Semprino |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 44 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-14 Completed Date: 2011-07-01 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 259-64 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Neuropediatrics, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. rhcaraballo@arnet.com.ar |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenocorticotropic Hormone
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therapeutic use Argentina Brain Edema* / diagnosis, physiopathology Diagnostic Imaging / methods Electroencephalography Epilepsy / physiopathology Female Hormones / therapeutic use Humans Infant Male Muscle Hypotonia / etiology Neurodegenerative Diseases* / diagnosis, physiopathology Optic Atrophy* / diagnosis, physiopathology Spasms, Infantile* / diagnosis, physiopathology |
| Chemical | |
Reg. No./Substance:
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0/Hormones; 9002-60-2/Adrenocorticotropic Hormone |
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