Synonym: Infantile cerebello-optic atrophy.
Inheritance: Thought to be autosomal recessive.
A rare neurodegenerative syndrome first reportes on 1991. Most patients are of Finnish descent with almost no other patients being reported elsewhere. it is currently believed that there are aproximately 20 patients in Finaldn with this condition.
Chikley in his article Syndromes Associated With Lymphatic Dysplasia classifies PEHO as a syndrome of lymphatic dysplasia which indicates edema and/or lymphedema as a symptom. Clinically, the edema would present in the abdomen, hands and feet. Other symptoms would include cerebellum agenesis/hypoplasia, cerebral cortex atrophy, depressed premaxillary region, e.e.g.abnormality, hypereflexia, long/large ear, mental retardation, microcephaly, mouth held open, optic disc anomaly/atrophy, seizures ( any type), short/small nose, scioloiosis (bones), hypotonia (muscles),. Osteopenia (bones and joints). (1) (2)
Diagnoses can be achieved through the use of magnetic resonance imaging (MRI). However Brain scan investigations of infants with PEHO-like syndrome do not show the progressive cerebellar atrophy diagnostic of PEHO syndrome.
There is no treatment and/or cure for the condition itself, thus any treatment would involve the symptoms and/or complications involved. A management program could be established for the management of the lymphedema.
Poor with most patients not living past 15 years of age.(1)
Research is quite scarce due to the limited prevelance and no "new" information has been available for a number of years.
June 5, 2008
Salonen et al. (1991) identified a new form of infantile progressive encephalopathy in 14 patients, 8 of whom were female, from 11 families. The clinical signs included severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or persistent edema, and optic atrophy. Other features included microcephaly and atrophy of the brain, especially in the cerebellar and brain stem areas. Salonen et al. (1991) pictured edema of the hands and tapering of the fingers resembling somewhat the hands in the Coffin-Lowry syndrome (303600). Facial anomalies included a 'pear-shaped' face, protruding lower parts of the earlobes, short nose, and open mouth with curved upper lip. No metabolic abnormality was found.
Haltia and Somer (1993) reported the neuropathologic findings in 8 cases: 3 patients in the original group described by Salonen et al. (1991) and 5 others collected from medical records. Two of the 8 patients were sibs. In addition, 1 patient had 1 sib, and another patient had 2 similarly affected sibs. Macroscopically, cerebral and pronounced cerebellar atrophy was seen, the essential histopathologically lesions being confined to the cerebellar cortex and the optic nerve. There was a severe neuronal loss in the inner granular layer of the cerebellum. The Purkinje cells were relatively preserved in number but were small, deformed, and slightly disaligned. Haltia and Somer (1993) found some similarities to congenital cerebellar granular cell hypoplasia and mental retardation (213200); however, mental retardation was less severe, and no epilepsy or optic atrophy was reported.
In a combined neuroradiologic and ophthalmologic study, Somer (1993) found that 10 of 21 possible patients had the true PEHO syndrome according to clinical criteria suggested by the authors. All were abnormal at birth, showing hypotonia, drowsiness, or poor feeding. Head circumference was normal at birth, but usually dropped to 2 SD below average during the first year of life. Visual fixation was either absent from birth or lost during the first months of life. Nine patients had peripheral edema in early childhood. The mean age of onset of infantile spasms was 4.9 months, no motor milestones were ever reached, and patellar reflexes were brisk. Brain stem and somatosensory evoked potentials were abnormal in each case studied, cortical responses of somatosensory evoked potentials could not be elicited, and motor conduction velocities became delayed with age. A total of 19 PEHO patients were found in 14 Finnish families in a pattern consistent with autosomal recessive inheritance. Somer (1993) indicated that cerebellar hypoplasia is a cardinal diagnostic feature of PEHO syndrome and suggested that a PEHO-like syndrome (the same clinical manifestations with only mild supratentorial atrophy) may occur.
Fujimoto et al. (1995) reported 2 affected sibs, a male and a female, born to healthy parents of Japanese descent who fulfilled the necessary diagnostic criteria for the PEHO syndrome established by Somer (1993) but who lacked supportive criteria of peripheral edema. In the female, there was mild elevation of the plasma lactate level only during the first year of life without an accompanying elevation of lactate in the cerebrospinal fluid.
Chitty et al. (1996) described 2 female sibs and 2 unrelated infants (a boy and a girl) with progressive encephalopathy, seizures, which started between 3 days and 13 months of age, characteristic facies, edema of the hands and feet, tapering fingers, and optic atrophy. All 4 patients died between 10 weeks and 34 months of age. Autopsies were declined. MRI, which was performed in 3 cases, showed delay in myelinization but no cerebellar atrophy. The patients reported by Chitty et al. (1996) fit the criteria of PEHO-like syndrome, but noted that the distinction between PEHO and PEHO-like cases remained unclear.
Longman et al. (2003) described 2 sisters with a PEHO-like syndrome. The firstborn had early epileptic spasms with hypsarrhythmia, visual inattention with optic atrophy, progressive microcephaly, and absence of development. Cranial MRI revealed periventricular white matter changes. Cerebellar hypoplasia, characteristic of true PEHO syndrome, was absent. The MRI changes were interpreted as periventricular leukomalacia due to prenatal ischemia, and a low recurrence risk was suggested. The younger sister was born similarly affected. Longman et al. (2003) noted that the diagnosis of PEHO syndrome is clinical, but cerebellar hypoplasia on neuroimaging is regarded as an additional necessary criterion. A heterogeneous group of PEHO-like patients, who lacked cerebellar hypoplasia but had varying supratentorial abnormalities, had been reported (Somer, 1993; Chitty et al., 1996). The family reported by Longman et al. (2003) was the second report of sibs with a PEHO-like syndrome, and it supported the existence of a distinct, autosomal recessive condition in which neuroimaging abnormalities may be misinterpreted.
Field et al. (2003) noted that few patients fulfilling the diagnostic criteria for PEHO syndrome had been reported outside Finland. Field et al. (2003) reported 5 Australian patients, the first with classic features of PEHO syndrome, and 4 who had a PEHO-like disorder. They suggested that the disorder may be more frequent than would be suggested based on the original diagnostic criteria.
McKusick - updated : 9/25/2003
Iosif W. Lurie - updated : 7/26/1996
Orest Hurko - updated : 3/9/1996
Victor A. McKusick : 6/4/1991
tkritzer : 3/19/2004
joanna : 3/17/2004
carol : 2/18/2004
criteria and genetics of the PEHO syndrome.
Department of Medical Genetics, Vaestoliitto, Finnish Population and Family Welfare Federation, Helsinki.
The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorder of unknown biochemical background. Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible PEHO patients fulfilled the criteria for true PEHO syndrome. All were abnormal at birth showing hypotonia, drowsiness, or poor feeding. Head circumference was normal, but usually dropped to 2 SD below average during the first year of life. Visual fixation was either absent from birth or lost during the first months of life. Nine patients had peripheral oedema in early childhood. The mean age of onset of infantile spasms was 4.9 months. All patients were extremely hypotonic and no motor milestones were reached. Patellar reflexes were brisk. Brain stem and somatosensory evoked potentials were abnormal in each case studied, cortical responses of somatosensory evoked potentials could not be elicited, and motor conduction velocities became delayed with age. Altogether 19 PEHO patients were found in 14 Finnish families. Autosomal recessive inheritance is likely.
PMID: 8301648 [PubMed - indexed for MEDLINE]
D I S E A S E : Peho syndrome
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. 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). 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. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. 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 cheeks, receding chin, epicanthic folds, an open mouth with a curved upper lip, protruding ear lobes and a short nose with anteverted nostrils). Transmission appears to be autosomal recessive but the etiology is unknown. The only biochemical anomalies identified so far are elevated levels of nitrite, nitrate and nitric oxide (NO), and low levels of insulin-like growth factor 1 (IGF-1) in the cerebrospinal fluid (CSF). Diagnosis is mainly clinical and depends on the presence of the following diagnostic criteria: early-onset severe hypotonia; the occurrence of seizures, infantile spasms and hypsarrhythmia after the first two weeks of life; onset of optic atrophy before two years of age, and failure to obtain any of the milestones for motor, visual and language development. An additional criterion is demonstration of cerebellar and brainstem atrophy by MRI. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The differential diagnosis should include Aicardi syndrome, mevalonic aciduria, the carbohydrate-deficient glycoprotein (CDG) syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome and olivo-pontine cerebellar atrophies (see these terms). Prenatal diagnosis is not available but early diagnosis is essential for genetic counseling of affected families. Treatment is symptomatic only. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone (ACTH) therapy. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration. *Author: Orphanet (January 2007)*.
Genetic database. Public : health professionals
Site in english
Peho Syndrome - Contact A Family
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
|Syndrome||progressive encephalopathy-edema-hypsarrhythmia-optic atrophy (PEHO) syndrome|
|Synonym||infantile cerebello-optic atrophy|
|Summary||Cerebellar and ocular atrophic disease with delayed or absent psychomotor development, hypotonia, convulsions, hyperreflexia, transient or persistent edema, and dysmorphic facies.|
|Major Features||Head and neck: Microcephaly with a narrow skull flattened at the sides, micrognathia, midfacial hypoplasia, and facial edema.|
|Ears: Protruding ear lobes.|
|Eyes: Optic atrophy and pale optic disks.|
|Nose: Short nose with anteverted nostrils and epicanthal folds.|
|Mouth and oral structures: Highly arched palate, gingival hypertrophy, open mouth and curved upper lip.|
|Hand and foot: Edema of the hands and feet and tapering of the fingers.|
|Extremities: Femoral subluxation.|
|Bones and joints: Osteopenia.|
|Nervous system: Atrophy of the cerebellum and brain stem, seizures, infantile spasms, hypsarrhythmia, and brisk patellar and ankle stretch reflexes.|
|Growth and development: Growth, motor, speech, and mental retardation.|
|Behavior and performance: Inability to maintain the head in the upright position and retain seating position without support, poor or absent visual fixation, athetoid movements, feeding difficulty, abnormal cry, and drowsiness.|
|Heredity: The syndrome is familial and is transmitted as an autosomal recessive trait.|
PEHO syndrome is a rare neurodegenerative condition which usually begins within the first few weeks of life. The condition takes its name from the following features: Progressive encephalopathy with (O)Edema, Hypsarrhythmia and Optic atrophy (PEHO).
Progressive encephalopathy is the term used to describe degenerative changes which take place in brain tissue; in PEHO syndrome, these changes characteristically occur in the cerebellum. The cerebellum is important for maintaining posture, co-ordinating head and eye movements and fine-tuning of muscles. Infants with PEHO syndrome may become increasingly floppy (hypotonia) and lose control of their muscles. 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.
Another feature of PEHO syndrome is infantile spasms. These are characterised by brief, but often repetitive, muscle contractions usually involving the head, trunk, and extremities. They occur in association with a particular pattern on EEG examination known as hypsarrhythmia. Seizures are also typical in PEHO syndrome and may begin from birth to 12 months. Infants with PEHO syndrome gradually lose their ability to see (optic atrophy). Visual fixation is either absent at birth or lost during the first months of life, leaving infants with wandering and upward turning eyes. Learning difficulties have also been associated with PEHO syndrome. These become apparent at an early stage and usually affect language skills.
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. The nose is small and upturned and the mouth is constantly open with a curved upper lip. Earlobes are outward turning. Although the head size is normal at birth, it usually becomes smaller (microcephaly) during the first year and the face becomes narrower with time.
The major diagnostic criteria for PEHO syndrome are changes in the brain originating in the cerebellum (cerebellar atrophy) and progressing to the brain stem. These may be identified by magnetic resonance imaging (MRI scan) or at post-mortem. A diagnosis of PEHO-like syndrome may be given to those infants who look similar to infants with PEHO syndrome but who may have milder clinical features. Brain scan investigations of infants with PEHO-like syndrome do not show the progressive cerebellar atrophy diagnostic of PEHO syndrome.
A number of conditions share similar features with PEHO syndrome including Joubert syndrome, autosomal recessive hypoplasia (Norman syndrome), olivo-pontine cerebellar atrophies and carbohydrate-deficient glycoprotein (CDG).
PEHO syndrome is thought to be inherited as an autosomal recessive trait.
Medical text last updated September 2002. Written by Contact a Family and approved by Dr S Robb, Consultant Paediatric Neurologist, Newcomen Centre, Guy's Hospital, London, UK.
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.
There is no support group for PEHO syndrome. Families can use Contact a Family's Freephone Helpline for advice and information, and where possible, links to other families.
Currently Contact a Family is actively involved in facilitating the formation of UK condition specific support groups. If you would like to know more about this, please contact the Rare Disorders Team on 020 7608 8700 or e-mail: firstname.lastname@example.org We look forward to hearing from you
PEHO and PEHO-like syndromes: report of five Australian cases.
Am J Med Genet A. 2003 Sep
Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia. email@example.com
|Keywords: hypsarrhythmia • progressive encephalopathy • oedema • optic atrophy|
PEHO syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Few patients fulfilling the diagnostic criteria for PEHO syndrome have been reported outside Finland. 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. 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. We report five Australian patients, the first with classical features of PEHO syndrome, and four who have a PEHO-like disorder. We compare their features with other published cases. 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. Copyright 2003 Wiley-Liss, Inc.
Abstracts and Studies:
Serial MR Imaging, Diffusion Tensor Imaging, and MR Spectroscopic Findings in a Child with Progressive Encephalopathy, Edema, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
Clin Dysmorphol. 2003 Apr
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report]
Rev Neurol. 2003 Jun
The PEHO syndrome.
Brain Dev. 2001 Nov
Patient Organizations Orphanet:
Codes and Classifications:
|Age of onset||Neonatal/infancy|
|ICD 10 code||
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