Acronym PEHOL Synonyms PEHO syndrome-like Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Cerebellar and brainstem atrophy are usually present on neuroimaging. A PEHO-like syndrome has been described, in which the affected individuals have neither optic atrophy nor the typical neuroradiological findings. [digital.library.adelaide.edu.au]

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. [moh-it.pure.elsevier.com]

The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) is an early onset neurodegenerative disorder presenting with infantile spasms, profound psychomotor retardation, hypotonia, and loss of visual contact. [tandfonline.com]

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. [ajnr.org]

• Poor Feeding

  General drowsiness and poor feeding are often features. Death usually occurs in infancy or early childhood. Midface hypoplasia and micrognathia are often present. [disorders.eyes.arizona.edu]

  Clinical description Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. [rarediseases.info.nih.gov]

• Weakness

  Pupillary responses to light are 'weak' and sluggish. Epicanthal folds may be seen. Systemic Features: Infants are usually born with a normal head circumference but fall behind (2 SD or more) in the first year. [disorders.eyes.arizona.edu]

  The muscles supporting the head become floppy and weak and rolling over, sitting, standing and walking are rarely accomplished. Oedema or swelling of the hands, feet and face is also a feature of PEHO syndrome which may be transient or permanent. [sendirect.org.uk]

• Feeding Difficulties

  At birth, neonates are severely floppy, have feeding difficulties and are very drowsy. Their appearance is characterised by an expressionless, pear-shaped face with narrow forehead, broad, puffy cheeks and receding chin. [sendirect.org.uk]

  These include low muscle tone, feeding difficulties, excessive drowsiness and movements that are described as abnormal. Spasms and seizures are also common throughout the first year of life. [fdna.health]

• Falling

  Systemic Features: Infants are usually born with a normal head circumference but fall behind (2 SD or more) in the first year. They have neonatal and infantile central hypotonia with brisk peripheral tendon reflexes during early childhood. [disorders.eyes.arizona.edu]

• Small Hand

  At the time of presentation, she had plump small hands and feet with tapered fingers. Edematous hands and feet had been observed previously. Multifocal spike waves and an abnormal background activity were seen on initial electroencephalography. [ajnr.org]

• Suggestibility

  Two patients whose radiographic findings suggested the PEHO syndrome did not develop optic atrophy; in these cases the diagnosis of the true PEHO syndrome remains questionable. [tandfonline.com]

  We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder. [digital.library.adelaide.edu.au]

  Variants affecting the motor domain of KIF1A has also been suggested to cause full or partial phenotype of PEHO in others. There has been other pathogenic variants in other genes known to be associated with the syndrome. [owlapps.net]

  This study suggests that ‘PEHO’ is no longer an appropriate clinical label outside of the Finnish population. [jmg.bmj.com]

  Variants affecting the motor domain of KIF1A has also been suggested to cause full or partial phenotype of PEHO in others. [en.wikipedia.org]

• Narrow Forehead

  Other features include early arrest of psychomotor development, severe intellectual deficit, microcephaly, edema (particularly of the extremities), tapered fingers and facial dysmorphism (including a 'Pear-shaped' face with a narrow forehead and full [rarediseases.info.nih.gov]

  Their appearance is characterised by an expressionless, pear-shaped face with narrow forehead, broad, puffy cheeks and receding chin. The nose is small and upturned and the mouth is constantly open with a curved upper lip. [sendirect.org.uk]

  Unique facial and physical features of the syndrome include a small head, edmea, tapered fingers, narrow forehead, full cheeks, an open mouth, prominent earlobes and a short nose with large nostrils Skip the waiting lines. [fdna.health]

  Download figure Open in new tab Download powerpoint Figure 2 (A) Typical dysmorphic faces (narrow forehead, epicanthic folds, short nose, open mouth and receding chin) in children with PEHO (A.i—child 1 and A.iv—child 5) and PEHO-like syndromes (A.ii—child [jmg.bmj.com]

• Encephalopathy

  Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol. 1993;85(3):241-7. [disorders.eyes.arizona.edu]

  Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). 61 57 Haltia M...Somer M 8460530 1993 10 Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome [malacards.org]

  Salonen R., Somer M., Haltia M., et al: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome). Clin Genet 1991;39:287—293. [journals.sagepub.com]

  Abstract The progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a pediatric disorder of unknown origin, characterized by a combination of postnatally progressive encephalopathy, hypsarrhythmia, and optic atrophy [pubmed.ncbi.nlm.nih.gov]

  Keywords: hypsarrhythmia; progressive encephalopathy; oedema; optic atrophy Rights: © 2003 Wiley-Liss, Inc. [digital.library.adelaide.edu.au]

• Seizure

  Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. [rarediseases.info.nih.gov]

  Child 2 initially showed myoclonic jerks before infantile spasms developed, whereas in child 1, the spasms were replaced by other seizure types including startle seizures and generalised tonic seizures. [jmg.bmj.com]

  These are a distinctive type of epileptic seizure characterised by brief, but often repetitive, muscle contractions usually involving the head, trunk, and extremities. [sendirect.org.uk]

  Definition An autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria [uniprot.org]

  […] 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 [moh-it.pure.elsevier.com]

• Convulsions

  Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions (often with a hypsarrhythmic EEG pattern), transient or persistent peripheral oedema, and optic atrophy. [digital.library.adelaide.edu.au]

  The distinct clinical criteria for the PEHO syndrome are infantile hypotonia, convulsion, early arrest of mental development, poor or absent visual fixation with optic atrophy by 2 years of age and progressive brain atrophy, particularly of the cerebellum [annchildneurol.org]

  The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperrcflexia, transient or persistent edema, and optic atrophy. [onlinelibrary.wiley.com]

  Discussion PEHO syndrome is a rare progressive neurodegenerative syndrome that has only recently been described.1,2 Diagnosis is made by fulfilling a combination of diagnostic criteria, including (1) infantile, usually neonatal, hypotonia; (2) convulsive [ajnr.org]

  This condition was first reported by Salonen et al in a group of Finnish patients.1 They described a progressive infantile encephalopathy with severe early hypotonia, developmental regression and convulsions. [jmg.bmj.com]

• Somnolence

  She remained somnolent for 3 days with development of a status dystonicus complicated by a rhabdomyolysis. No renal or respiratory complications occurred. [ajnr.org]

  A further feature which is not listed in the supportive criteria, but which is of interest, is a striking somnolence which was seen in these children. This feature was remarked on in the notes of 18 out of 19 children studied. [jmg.bmj.com]

• Hypsarrhythmia

  Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). 61 57 Haltia M...Somer M 8460530 1993 10 Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome [malacards.org]

  Salonen R., Somer M., Haltia M., et al: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO syndrome). Clin Genet 1991;39:287—293. [journals.sagepub.com]

  Abstract The progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a pediatric disorder of unknown origin, characterized by a combination of postnatally progressive encephalopathy, hypsarrhythmia, and optic atrophy [pubmed.ncbi.nlm.nih.gov]

  Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol. 1993;85(3):241-7. [disorders.eyes.arizona.edu]

  "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child". European Journal of Paediatric Neurology. 8 (6): 317–21. doi:10.1016/j.ejpn.2004.08.006. [en.wikipedia.org]

Diagnosis Treatment There is no cure for PEHO syndrome. Some symptoms can be managed, but otherwise treatment is supportive care. References External links PEHO syndrome [owlapps.net]

Treatment Treatment Options: Physical therapy to prevent contractures and general supportive care can be helpful. Supplemental feeding may be required. [disorders.eyes.arizona.edu]

(November 2020) Treatment[edit] There is no cure for PEHO syndrome. Some symptoms can be managed, but otherwise treatment is supportive care.[citation needed] References[edit] ^ OrphanNet. [en.wikipedia.org]

Management and treatment Treatment is symptomatic only. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone (ACTH) therapy. [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Prognosis The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration. Last updated: 1/1/2007 [rarediseases.info.nih.gov]

It is a rare, autosomal recessive, and severe neurodegenerative disease with onset in early infancy and guarded prognosis. [annchildneurol.org]

Infancy, Neonatal Diagnostic method Mainly clinical, MRI Differential diagnosis Aicardi syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome, olivo-pontine cerebellar atrophies Treatment Supportive care Prognosis [en.wikipedia.org]

[…] developmental epilepsy and seizures genetics neurology Introduction Progressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome of likely autosomal recessive genetic aetiology with a devastating prognosis [jmg.bmj.com]

Etiology Transmission appears to be autosomal recessive but the etiology is unknown. [rarediseases.info.nih.gov]

Functional MR imaging techniques including diffusion tensor imaging, perfusion-weighted imaging, and 1H-MR spectroscopy could be helpful for a better understanding of the etiology and progression of injury. [ajnr.org]

Epidemiology The incidence in Finland has been estimated at 1 in 78 000, but a few patients have been described from other countries including (The Netherlands, Spain France). [rarediseases.info.nih.gov]

Treatment Treatment Options: Physical therapy to prevent contractures and general supportive care can be helpful. Supplemental feeding may be required. [disorders.eyes.arizona.edu]

However, recent studies have provided evidence that insulin-like growth factor 1 (IGF-1) may prevent the NO-mediated neuronal damage and is essential for the survival of the cerebellar granule cells. These cells will degenerate in the PEHO syndrome. [pubmed.ncbi.nlm.nih.gov]

The ADC values of the cortex could not be measured, because the high degree of cortical atrophy prevented a reliable positioning of a region of interest. [ajnr.org]