Directory of PEHO Syndrome Resources

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PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy) is an autosomal recessive disorder leading to profound psychomotor retardation. The etiology and pathogenesis of the syndrome are unknown. The main clinical findings are severe hypotonia, brisk reflexes, convulsions, profound psychomotor retardation, subcutaneous edema, and absence or early loss of visual fixation. The nature of the syndrome is progressive and most patients die before the age of 15 years.

Resources in This Category

• Cranial Magnetic Resonance Imaging Mistakenly Suggests Prenatal Ischaemia in PEHO-Like Syndrome

  http://www.ncbi.nlm.nih.gov/pubmed/12868478
  Longman, Tolmie, McWilliam and MacLennan describe two sisters with a PEHO-like syndrome, for the eldest of whom cranial magnetic resonance imaging revealed periventricular white matter changes, whilst cerebellar hypoplasia, characteristic of true PEHO syndrome, was absent.

• Infantile Cerebello-Optic Atrophy

  http://www.ncbi.nlm.nih.gov/pubmed/8460530
  Haltia and Somer describe eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (PEHO syndrome).

• Online Mendelian Inheritance in Man

  http://omim.org/entry/260565
  Summarizes the current understanding of Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome).

• PEHO syndrome

  http://www.ncbi.nlm.nih.gov/pubmed/8301648
  Somer describes a number of Finnish cases.

• Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO syndrome) in Two Japanese Siblings

  http://www.ncbi.nlm.nih.gov/pubmed/8552220
  Fujimoto et al report on two Japanese siblings with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy), the first case report of PEHO syndrome outside Finland.

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