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Peho-like syndrome(PEHOL)

MedGen UID:
337956
Concept ID:
C1850056
Disease or Syndrome
Synonym: PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME
SNOMED CT: PEHO-like syndrome (770678005); Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (770678005); PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome (770678005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CCDC88A (2p16.1)
 
Monarch Initiative: MONDO:0020495
OMIM®: 617507
Orphanet: ORPHA99807

Definition

A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. [from SNOMEDCT_US]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Sign or Symptom
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Lissencephaly
MedGen UID:
78604
Concept ID:
C0266463
Finding
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Infantile encephalopathy
MedGen UID:
343542
Concept ID:
C1856408
Finding
Encephalopathy with onset in the infantile period.
Intellectual disability, profound
MedGen UID:
892508
Concept ID:
C3161330
Mental or Behavioral Dysfunction
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Severe muscular hypotonia
MedGen UID:
326544
Concept ID:
C1839630
Finding
A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
Progressive microcephaly
MedGen UID:
340542
Concept ID:
C1850456
Anatomical Abnormality
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Epicanthal fold
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeho-like syndrome

Recent clinical studies

Etiology

Sabaie H, Ahangar NK, Ghafouri-Fard S, Taheri M, Rezazadeh M
Biomed Pharmacother 2020 Nov;131:110793. Epub 2020 Sep 29 doi: 10.1016/j.biopha.2020.110793. PMID: 33152950
Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
Brain Dev 2008 May;30(5):349-55. Epub 2007 Dec 11 doi: 10.1016/j.braindev.2007.10.006. PMID: 18065176
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C
J Child Neurol 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. PMID: 15968934
Longman C, Tolmie J, McWilliam R, MacLennan A
Clin Dysmorphol 2003 Apr;12(2):133-6. doi: 10.1097/00019605-200304000-00012. PMID: 12868478

Diagnosis

Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG
J Med Genet 2018 Dec;55(12):803-813. Epub 2018 Oct 4 doi: 10.1136/jmedgenet-2018-105288. PMID: 30287594
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W
Pediatr Neurol 2016 Jul;60:83-7. Epub 2016 Apr 9 doi: 10.1016/j.pediatrneurol.2016.03.011. PMID: 27343026Free PMC Article
Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG
Brain 2016 Apr;139(Pt 4):1036-44. Epub 2016 Feb 25 doi: 10.1093/brain/aww014. PMID: 26917597Free PMC Article
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C
J Child Neurol 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. PMID: 15968934
Longman C, Tolmie J, McWilliam R, MacLennan A
Clin Dysmorphol 2003 Apr;12(2):133-6. doi: 10.1097/00019605-200304000-00012. PMID: 12868478

Prognosis

Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T
Eur J Med Genet 2020 Feb;63(2):103660. Epub 2019 Apr 29 doi: 10.1016/j.ejmg.2019.04.017. PMID: 31048081Free PMC Article
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C
J Child Neurol 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. PMID: 15968934
Chitty LS, Robb S, Berry C, Silver D, Baraitser M
Clin Dysmorphol 1996 Apr;5(2):143-52. doi: 10.1097/00019605-199604000-00006. PMID: 8723564

Clinical prediction guides

Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T
Eur J Med Genet 2020 Feb;63(2):103660. Epub 2019 Apr 29 doi: 10.1016/j.ejmg.2019.04.017. PMID: 31048081Free PMC Article
Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
Brain Dev 2008 May;30(5):349-55. Epub 2007 Dec 11 doi: 10.1016/j.braindev.2007.10.006. PMID: 18065176

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