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]

• Feeding Difficulties

  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]

  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]

• 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]

• Recurrent Respiratory Infections

  respiratory infections, Tented upper lip vermilion, Microcephaly, Sleep disturbance, Abnormal palate morphology, Undetectable visual evoked potentials, Abnormality of movement, Abnormality of the hand, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical [fdna.health]

• Macrotia

  […] atrophy, Full cheeks, Gingival overgrowth, Hydrocephalus, Cognitive impairment, Visual impairment, Hypsarrhythmia, Hyperreflexia, Open mouth, Optic atrophy, Palpebral edema, Retrognathia, Autosomal recessive inheritance, Seizure, Porencephalic cyst, Macrotia [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]

  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]

  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]

• Mid-Face Hypoplasia

  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]

• Hyperreflexia

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

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]