However, no single gene has been identified as causative1, 5 and an autosomal dominant form. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in peholike syndrome ncbi. No metabolic cause of progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho syndrome or peholike patients has been found. The term peho like syndrome has been proposed for patients who share clinical features of peho syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. Diagnostic criteria and genetics of the peho syndrome. It is a very rare disease, one of the finnish heritage diseases, although approximately half of the cases reported so far are notfinnish and have been described worldwide. The phenotypic and molecular spectrum of peho syndrome and. Peho syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. The endpoint of different genetic epilepsies background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a clinically. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone acth therapy. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions often with a hypsarrhythmic eeg pattern. Sainioepilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia and optic atrophy the peho syndrome. It is a very rare disease, one of the finnish heritage diseases, although approximately half of the cases reported so far are notfinnish and have been described worldwide it has been suggested that it may also be present in australian and american populations. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126.
The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic. Methods brain ct or mr studies were performed on 21 patients with. Low highdensity cholesterol in patients with progressive. Somer 1993 indicated that cerebellar hypoplasia is a cardinal diagnostic feature of peho syndrome and suggested that a peholike syndrome the same clinical manifestations with only mild supratentorial atrophy may occur. Serial mr imaging, diffusion tensor imaging, and mr. For more information about the disease, please go to the disease information page. This study included 8 patients with peho syndrome aged 6. Secondary microcephaly develops after birth and predominantly reflects dendritic or white matter diseases. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. Report ccdc88a mutations cause peholike syndrome in humans and mouse michael s. Our objective was to discover if peho syndrome is a single gene disorder. Peho syndrome is very rare in other populations with download pdf. 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 igf1 levels.
The current case report presents and discusses serial conventional mr imaging findings and serial functional studies including diffusion tensor imaging and quantitative mr spectroscopy. Clinical features of peho syndrome caused by ccdc88a truncating mutation. If you have problems viewing pdf files, download the latest version of adobe reader. Nih makes no endorsements of tests or laboratories listed in the gtr. Increased plasma malondialdehyde associated with cerebellar. No metabolic cause of progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho syndrome or peho like patients has been found. My daughter virginie has peho syndrome peho progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. Ser31leu mutation in the znhit3 gene causing peho progressive encephalopathy. He was born at term by normal delivery birthweight 2. Nahorski,1, masato asai,2, emma wakeling,3 alasdair parker,4 naoya asai,2 natalie canham,3 susan e. The levels of igf1 in the patients with peho syndrome were significantly lower than in the controls and in the peho like syndrome.
Jan 15, 2003 peho syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Peho syndrome progressive encephalopathy with edema. Few patients fulfilling the diagnostic criteria for peho syndrome have been reported outside finland. At birth he had weak cry, microcephaly head circumference 31 cm, jan 01, 2007 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 igf1 levels. Earlyonset epileptic encephalopathies eoees are neurological disorders in children characterized by frequent severe seizures and persistent abnormality of cortical. The peho syndrome progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy is an early onset neurodegenerative disorder presenting with infantile spasms, profound psychomotor.
Peho syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Peho syndrome is very rare in other populations with syndrome. Many neurodegenerative disorders, including parkinsons, alzheimers, and amyotrophic lateral sclerosis, are well known to involve the accumulation of diseasespecific proteins. The endpoint of different genetic epilepsies background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a. Peho syndrome is enriched in the finnish population with an estimated incidence of 1. Report ccdc88a mutations cause peholike syndrome in humans. Background malondialdehyde mda in plasma is regarded as an indicator for increased lipid peroxidation. It is a rare, autosomal recessive, and severe neurodegenerative disease with onset in early. Somers distinction between classical peho and peholike syndromes has been questioned3, 4. Methods this was a prospective casecontrol study including 27 patients with microcephaly and 27 healthy controls. This group of patients was diagnosed with peholike syndrome. In patients with the peho syndrome, as compared with controls, the levels of igf1 were reduced and the levels of nitritenitrate were markedly elevated. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy peho syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual deficit, early arrest of psychomotor development, seizures, and cerebellar atrophy.
Microcephaly is a clinical finding, not a disease, and is a crude but trusted assessment of intracranial brain volume. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of. The phenotypic and molecular spectrum of peho syndrome and peholike. Freeware quantum resonance magnetic analyzer free downloads. Pdf serial mri in a child with peho syndrome hakan.
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in peho like syndrome ncbi. It has been postulated that it is an autosomal recessive condition. Peho syndrome genetic and rare diseases information center. Pdf the phenotypic and molecular spectrum of peho syndrome. Mar 17, 2020 the authors discuss a child with peho like syndrome and underline the need for a careful followup of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy.
The peho syndrome progressive encephalopathy with oedema. The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects. The levels of igf1 in the patients with peho syndrome were significantly lower than in the controls and in the peholike syndrome. Less well known are the accumulations of another set of proteins, neuronal intermediate filaments nfs, which have been observed in these diseases for decades. Nfs belong to the family of cytoskeletal intermediate. The term peholike syndrome has been proposed for patients who share clinical features of peho syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria.
Although peho could be considered a very rare syndrome, it has been reported. This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject. Developmental processes reducing in utero neuron generation present at birth with primary microcephaly. The peho syndrome is a rare symptom complex of severe progressive. The molecular bases of both clinically defined conditions remain unknown in spite of the. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Peho syndrome is a rare symptom complex of severe p rogressive encephalopathy, e dema, h ypsarrhythmia, and o ptic atrophy. Two of the autopsied patients were sisters and two other cases were familial. All demonstrate reduced brain volume with bilateral, severe pachygyrialissencephaly. The goal of this study was to assess the serum lipid pattern of the patients. The inclusion criteria were based on the information received from the original peho cases table 1. Defective production of igf1 probably reflects the underlying neurodegeneration and the increase in no production probably reflects the seizure activity andor neurodegeneration. Purpose to investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho symptom complex. The peho syndrome progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy is a recently recognised disorder of unknown biochemical background. Method measurements of mda concentrations in plasma were compared among healthy children n31, patients with neurological disorders or epileptic syndromes n15, and children with pontocerebellar structural defects n31, where the.
Report ccdc88a mutations cause peho like syndrome in humans and mouse michael s. Ccdc88a mutations cause peholike syndrome in humans and. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. Autosomalrecessive mutations in ap3b2, adaptorrelated. Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. A disorder of purine synthesis, adenylosuccinate lyase deficiency is a rare condition, with only about 40 published cases. Report ccdc88a mutations cause peholike syndrome in. This is a standard security test that we use to prevent spammers from sending automated requests. Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy peho syndrome.
Autosomalrecessive mutations in ap3d1 cause a severe disorder cumulating the symptoms of the ap3b1 and ap3b2 defects. We describe two familial and three nonfamilial cases from argentina, examined between february 1, 1990july 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. Autosomalrecessive variations of ap3b1, the ubiquitous isoform, cause hermanskypudlak syndrome type 2. They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first. They suggested that the disorder may be more frequent than would be suggested based on the original diagnostic criteria. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other peho criteria are often described as a peholike syndrome. The role of neurofilament aggregation in neurodegeneration.
It is postulated to be an autosomal recessive condition. The distinct clinical criteria for the peho syndrome are infantile hypotonia. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Peho syndrome may represent phenotypic expansion at the. Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. 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 6yearold child with peho. Peho syndrome genetic and rare diseases information. Progressive encephalopathy with edema, hypsarrhythmia, and optic. This group of patients was diagnosed with peho like syndrome. For language access assistance, contact the ncats public information officer. Objective to investigate the morphology of the retina and optic nerve on in microcephaly.
All five children were products of normal gestation, although one was premature. Progressive encephalopathy with edema, hypsarrhythmia, and. Geoffrey woods1 these authors contributed equally to this work. The authors discuss a child with peholike syndrome and underline the need for a careful followup of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy. Pdf download buy article permissions and reprints abstract we report on two japanese siblings one female and one male with peho syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy peho syndrome is a distinct neurodevelopmental disorder. Retinal and optic nerve changes in microcephaly neurology.
A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for peho syndrome. Investigating microcephaly archives of disease in childhood. Background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a clinically distinct syndrome. Method measurements of mda concentrations in plasma were compared among healthy children n31, patients with neurological disorders or epileptic syndromes n15, and children with pontocerebellar structural defects n31, where the cause or genetic defect remained unknown. We report on two japanese siblings one female and one male with peho syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.
Peho syndrome is a pediatric disorder of unknown origin, characterized by a combination of postnatally progressive encephalopathy. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible peho. Patients and consumers with specific questions about a genetic test should contact a. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions often with a hypsarrhythmic eeg pattern, transient or persistent. All participants underwent ophthalmologic examination and handheld optical coherence tomography oct of the macula and on head. Znhit3 is defective in peho syndrome, a severe encephalopathy. Apr 01, 2011 we describe two familial and three nonfamilial cases from argentina, examined between february 1, 1990july 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. Oligohydramnios was detected in the last trimester of pregnancy. Peho syndrome the end point of severe epilepsies european.
982 1300 638 1101 602 1293 1230 397 1375 464 909 460 1058 1439 305 1016 1149 500 690 1178 938 1525 767 1175 708 1287 597 391 351 374 1336 571 718 886 473