Seizures may be present at birth or within the first month of life. Edema of the feet, hands, and face are also present at birth. Cognitive deficits and motor delays are usually evident during infancy. [disorders.eyes.arizona.edu]

Microcephaly is progressive and not usually present at birth. [nature.com]

DISEASE: PEHO syndrome Entry H02252 Disease Name PEHO syndrome Description The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy [genome.jp]

Some of the divergence in this cohort may be due to features occurring later and not being present at the time of assessment. [jmg.bmj.com]

• 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. [rareguru.com]

• Flexion Contracture

  contracture Feeding difficulties Epicanthus Hyperreflexia And another 64 symptoms. [mendelian.co]

• Narrow Forehead

  Other dysmorphic features include micrognathia, narrow forehead, short nose, and open mouth. Brain imaging reveals coarse pachygyria, polymicrogyria, and dilated ventricles with hypoplastic corpus callosum and pons. [disorders.eyes.arizona.edu]

  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. [contact.org.uk]

  Dysmorphic features were narrow forehead, epicanthic folds, outward turning ear lobules, open mouth, and tapering fingers. * This information is courtesy of the L M D. [fdna.health]

  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 [rareguru.com]

• Hyperreflexia

  Clinical Features Top most frequent phenotypes and symptoms related to Peho Syndrome Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly Abnormal facial shape Flexion contracture Feeding difficulties Epicanthus Hyperreflexia [mendelian.co]

  There was severe hypotonia, hyperreflexia, infantile spasms and marked oedema, especially of the extremities. [fdna.health]

Treatment Treatment Options: No treatment has been reported. [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. "PEHO syndrome". [en.wikipedia.org]

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

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]

Prognosis The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration. Visit the Orphanet disease page for more resources. [rareguru.com]

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]

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]

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

[…] early death.The affected individuals have neither optic atrophy nor the typical neuroradiological findings has been described as PEHO-like syndrome.At present,there are few reports about PEHO syndrome in China.In this study,we summarizes the incidence,etiology [pesquisa.bvsalud.org]

This raises the possibility that some of the recurrences reported may be because of germline mosaicism or somatic mosaicism in one parent, and that PEHO syndrome is etiologically heterogeneous. [nature.com]

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). [rareguru.com]

Confirmation of de novo KIF1A variants affecting the motor domain of the protein in patients clinically diagnosed with PEHO syndrome would allow for appropriate genetic counseling of the parents, and is a first step to unraveling the pathophysiology of [nature.com]

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. [findis.org]

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

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]