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]

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]

• 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]

• Precocious Puberty

  puberty in two girls with PEHO syndrome: a clinical feature not previously described. 62 Alfadhel M...Langlois S 21596701 2011 32 PEHO syndrome: a study of five Argentinian patients. 62 Caraballo RH...Semprino M 21397166 2011 33 [Cerebellar hypoplasias [malacards.org]

  Article CAS Google Scholar Alfadhel M, Yong SL, Lillquist Y, Langlois S : Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described. J Child Neurol 2011; 26: 851–857. [nature.com]

• Receding Chin

  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]

  chin, epicanthic folds, an open mouth with a curved upper lip, protruding ear lobes and a short nose with anteverted nostrils). [rareguru.com]

  The facies were characterized by a narrow forehead, puffy cheeks, a receding chin, protruding earlobes, epicanthic folds, mid-face hypoplasia, a high-arched palate and an open mouth. [fdna.health]

• Small Head

  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]

• Visual Impairment

  Microcephaly, cortical visual impairment, optic neuropathy and epilepsy, all features of PEHO syndrome, were observed in some patients. Table 1 provides an overview of the data on all reported cases. [nature.com]

  […] evoked potentials, Abnormality of movement, Abnormality of the hand, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebellar atrophy, Full cheeks, Gingival overgrowth, Hydrocephalus, Cognitive impairment, Visual impairment, Hypsarrhythmia [fdna.health]

• Visual Impairment

  Microcephaly, cortical visual impairment, optic neuropathy and epilepsy, all features of PEHO syndrome, were observed in some patients. Table 1 provides an overview of the data on all reported cases. [nature.com]

  […] evoked potentials, Abnormality of movement, Abnormality of the hand, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebellar atrophy, Full cheeks, Gingival overgrowth, Hydrocephalus, Cognitive impairment, Visual impairment, Hypsarrhythmia [fdna.health]

• Narrow Forehead

  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]

  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]

  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]

  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]

• Short Nose

  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]

  nose with anteverted nostrils). [rareguru.com]

  nose, Intellectual disability Skip the waiting lines. [fdna.health]

• Hyperreflexia

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

  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]

• Profound Intellectual Disability

  disability as opposed to only cases with profound intellectual disability; and any degree of optic atrophy; then two additional patients would meet all five of the criteria; two additional patients met four out of the five criteria; and a total of six [nature.com]

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

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]

(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]

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]

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. [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]

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. [findis.org]

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]