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. Peho syndrome genetic and rare diseases information center. 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. Freeware quantum resonance magnetic analyzer free downloads. Few patients fulfilling the diagnostic criteria for peho syndrome have been reported outside finland. This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject. Oligohydramnios was detected in the last trimester of pregnancy. However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Peho syndrome genetic and rare diseases information. However, no single gene has been identified as causative1, 5 and an autosomal dominant form of peho syndrome has also been described. Retinal and optic nerve changes in microcephaly neurology. This is a standard security test that we use to prevent spammers from sending automated requests.
The inclusion criteria were based on the information received from the original peho cases table 1. Peho syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It has been postulated that it is an autosomal recessive condition. The goal of this study was to assess the serum lipid pattern of the patients. Pdf the phenotypic and molecular spectrum of peho syndrome. Znhit3 is defective in peho syndrome, a severe encephalopathy. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy peho syndrome is a distinct neurodevelopmental disorder. The role of neurofilament aggregation in neurodegeneration. Progressive encephalopathy with edema, hypsarrhythmia, and optic. Investigating microcephaly archives of disease in childhood. He was born at term by normal delivery birthweight 2. Geoffrey woods1 these authors contributed equally to this work.
Pdf serial mri in a child with peho syndrome hakan. Less well known are the accumulations of another set of proteins, neuronal intermediate filaments nfs, which have been observed in these diseases for decades. Peho syndrome is very rare in other populations with syndrome. Report ccdc88a mutations cause peholike syndrome in.
Earlyonset epileptic encephalopathies eoees are neurological disorders in children characterized by frequent severe seizures and persistent abnormality of cortical. Ser31leu mutation in the znhit3 gene causing peho progressive encephalopathy. Two of the autopsied patients were sisters and two other cases were familial. My daughter virginie has peho syndrome peho progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. Many neurodegenerative disorders, including parkinsons, alzheimers, and amyotrophic lateral sclerosis, are well known to involve the accumulation of diseasespecific proteins. Ccdc88a mutations cause peholike syndrome in humans and. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone acth therapy. The endpoint of different genetic epilepsies background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a clinically. Background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a clinically distinct syndrome. All participants underwent ophthalmologic examination and handheld optical coherence tomography oct of the macula and on head. 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. Somers distinction between classical peho and peholike syndromes has been questioned3, 4. 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. The phenotypic and molecular spectrum of peho syndrome and peholike.
Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. The peho syndrome is a rare symptom complex of severe progressive. Peho syndrome progressive encephalopathy with edema. Background malondialdehyde mda in plasma is regarded as an indicator for increased lipid peroxidation. If you have problems viewing pdf files, download the latest version of adobe reader. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of. Report ccdc88a mutations cause peholike syndrome in humans and mouse michael s. 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. In combined neuroradiological and ophthalmological studies, 10 out of 21 possible peho. 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. Browse az genetic and rare diseases information center. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome.
Increased plasma malondialdehyde associated with cerebellar. The levels of igf1 in the patients with peho syndrome were significantly lower than in the controls and in the peholike syndrome. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in peholike syndrome ncbi. Peho syndrome may represent phenotypic expansion at the. No metabolic cause of progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho syndrome or peholike patients has been found. Patients and consumers with specific questions about a genetic test should contact a.
Diagnostic features have been found in neuroradiological and neuropathological studies, which show characteristic severe cerebellar atrophy. It is a rare, autosomal recessive, and severe neurodegenerative disease with onset in early. Methods brain ct or mr studies were performed on 21 patients with. This study included 8 patients with peho syndrome aged 6. Secondary microcephaly develops after birth and predominantly reflects dendritic or white matter diseases. For language access assistance, contact the ncats public information officer. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions often with a hypsarrhythmic eeg pattern, transient or persistent. Peho syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. The current case report presents and discusses serial conventional mr imaging findings and serial functional studies including diffusion tensor imaging and quantitative mr spectroscopy.
Serial mr imaging, diffusion tensor imaging, and mr. All demonstrate reduced brain volume with bilateral, severe pachygyrialissencephaly. Clinical features of peho syndrome caused by ccdc88a truncating mutation. Nih makes no endorsements of tests or laboratories listed in the gtr. Purpose to investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho symptom complex. The distinct clinical criteria for the peho syndrome are infantile hypotonia. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other peho criteria are often described as a peholike syndrome. 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. However, no single gene has been identified as causative1, 5 and an autosomal dominant form.
Diagnostic criteria and genetics of the peho syndrome. Autosomalrecessive mutations in ap3b2, adaptorrelated. Progressive encephalopathy with edema, hypsarrhythmia, and. 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. Developmental processes reducing in utero neuron generation present at birth with primary microcephaly. Methods this was a prospective casecontrol study including 27 patients with microcephaly and 27 healthy controls. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for peho syndrome. Peho syndrome is a pediatric disorder of unknown origin, characterized by a combination of postnatally progressive encephalopathy. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in peho like syndrome ncbi. 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. The peho syndrome progressive encephalopathy with oedema. Jan 15, 2003 peho syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Our objective was to discover if peho syndrome is a single gene disorder.
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. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. Nahorski,1, masato asai,2, emma wakeling,3 alasdair parker,4 naoya asai,2 natalie canham,3 susan e. Peho syndrome the end point of severe epilepsies european. Low highdensity cholesterol in patients with progressive. The levels of igf1 in the patients with peho syndrome were significantly lower than in the controls and in the peho like syndrome. It is postulated to be an autosomal recessive condition.
Peho syndrome is enriched in the finnish population with an estimated incidence of 1. Autosomalrecessive variations of ap3b1, the ubiquitous isoform, cause hermanskypudlak syndrome type 2. 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. The phenotypic and molecular spectrum of peho syndrome and. They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first.
This group of patients was diagnosed with peho like syndrome. 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. Nih does not independently verify information submitted to the gtr. Report ccdc88a mutations cause peholike syndrome in humans. No metabolic cause of progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy peho syndrome or peho like patients has been found. A disorder of purine synthesis, adenylosuccinate lyase deficiency is a rare condition, with only about 40 published cases. 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. Peho syndrome is a rare symptom complex of severe p rogressive encephalopathy, e dema, h ypsarrhythmia, and o ptic atrophy. Microcephaly is a clinical finding, not a disease, and is a crude but trusted assessment of intracranial brain volume. All five children were products of normal gestation, although one was premature. 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. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions often with a hypsarrhythmic eeg pattern.
Although peho could be considered a very rare syndrome, it has been reported. Objective to investigate the morphology of the retina and optic nerve on in microcephaly. Nfs belong to the family of cytoskeletal intermediate. The peho syndrome progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy is an early onset neurodegenerative disorder presenting with infantile spasms, profound psychomotor. A 6monthold boy born to nonconsanguineous parents presented with intractable seizures from the fourth month of age. Sainioepilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia and optic atrophy the peho syndrome. This group of patients was diagnosed with peholike syndrome. Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy peho syndrome.
The peho syndrome progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy is a recently recognised disorder of unknown biochemical background. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. The molecular bases of both clinically defined conditions remain unknown in spite of the. 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. For more information about the disease, please go to the disease information page. Peho syndrome is very rare in other populations with download pdf. In patients with the peho syndrome, as compared with controls, the levels of igf1 were reduced and the levels of nitritenitrate were markedly elevated. The endpoint of different genetic epilepsies background progressive encephalopathy, hypsarrhythmia and optic atrophy peho has been described as a. 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. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. We report on two japanese siblings one female and one male with peho syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy.
387 125 254 1079 3 949 239 1345 1441 926 444 799 1035 800 843 487 691 608 264 261 251 1181 242 658 288 193 1408 736 1072 1141 276 1139 1391 208 1403 1116