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PubMed2004

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare neurodegenerative syndrome first reported in 1991. Most patients described are of Finnish descent and very few patients have been reported in other countries. We report the first Swiss patient who fulfils the criteria of the PEHO syndrome. The course of the epilepsy is less severe than previously reported. Our patient developed a severe dystonic state after a febrile gastrointestinal infection, with a hypotonic state that may have been a dysregulation of brainstem origin. The diagnosis was made because of marked cerebellar atrophy in the repeated MRI. In patients with infantile spasms and severe developmental delay PEHO syndrome should be considered; it is not confined to Finnish heritage. Optic atrophy should be looked for and repeat MRI is indicated.

Atrophy↗

PubMed2002

Reconstructing the course of HIV-1-associated progressive encephalopathy in children.

The factors that trigger the clinical onset of HIV-1-associated progressive encephalopathy (PE) in children remain unknown. HIV-1 invades the central nervous system (CNS) from the very beginning of infection, but the timeframe for PE development is variable. It has recently been suggested that increased traffic into the brain of HIV-1-infected or activated monocytes arising directly from the bone marrow may be the first step to clinical onset of adult HIV encephalopathy. The determining factor for this enhanced recruitment of blood monocytes into the CNS in adults has been postulated to be increased HIV-1 replication. However, children usually exhibit high levels of viral load beginning in the first months of life, even under very aggressive antiretroviral therapy. PE in children represents a unique form of CNS involvement of HIV, much more common, early, and devastating for children than for adults, representing in fact an independent cause of mortality. In the light of recent literature on this issue and our own in vitro and in vivo results the possible mechanisms implicated in the pathogenesis of PE are discussed. We propose that CD8+ T-lymphocytes would be the nexus for all the various aspects of the disease, namely the loss of control over HIV-1 replication, increased traffic of activated monocytes, the spread of infection to immune sanctuaries and finally the neurological emergence of PE. Possible new biologic markers

AIDS Dementia Complex↗

PubMedDate not supplied

[Inborn disorders of amino acid metabolism as etiologic factors in progressive encephalopathy in the early neonatal period].

The authors report three cases of neonates with severe, progressive encephalopathy provoked by congenital disturbances of amino acid metabolism (hyperglycinemia, citrulinemia, and hyperamoniemia type: II). The occurrence of convulsions is particularly pointed out, because they are the most indicative signs of brain damage manifested in the first seven days of life.

Amino Acid Metabolism, Inborn Errors↗

PubMed1995

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?

Two siblings with atypical methylmalonic aciduria and progressive encephalopathy are reported. Initial symptoms were failure to thrive and growth retardation from the first year of life, progressing to severe mental retardation, microcephaly, dystonia, spasticity and cataracts. The amount of methylmalonic acid excreted in the urine was substantially lower than in classical methylmalonic acidemia and was not reduced by vitamin B12 therapy. The activity of methylmalonyl-CoA mutase and the overall assay of propionic acid metabolism in cultured fibroblasts were normal. The primary defect in this probably new autosomal recessive disorder associated with methylmalonic aciduria is currently not known.

Adult↗

PubMed2005

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

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. A condition similar to PEHO syndrome, but without the neuroradiologic or ophthalmologic signs, is known as PEHO-like syndrome. 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.

Brain Edema↗

PubMed1978

3-methylglutaconic aciduria: report on a sibship with infantile progressive encephalopathy.

Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.

Amino Acid Metabolism, Inborn Errors↗

PubMed2006

Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. Disease onset is in early infancy. 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.

Aspartic Acid↗

PubMedDate not supplied

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.

PURPOSE: To investigate the radiologic characteristics of the clinical progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) symptom complex. This complex is nonspecific, but within this syndrome, a subgroup with a defined neuropathologic phenotype and apparently autosomal recessive inheritance exists. METHODS: Brain CT or MR studies were performed on 21 patients with the clinical PEHO syndrome. Their previous neuroradiologic studies were re-evaluated. RESULTS: Twelve patients (group A) showed uniform changes with early progressive brain atrophy accentuated infratentorially, and abnormal myelination. The gyral pattern was normal. Brain atrophy of nine patients (group B) differed by being less progressive, supra- rather than infratentorial, and often combined with abnormal gyral formation. CONCLUSIONS: Postmortem studies permitted correlation of radiographic and morphologic findings in three cases. Two autopsied group A patients were compatible with the true PEHO syndrome, while one group B patient was incompatible. Group A seems to correspond to the core group of the PEHO syndrome. During a patient's life, a suggestive diagnosis of the true PEHO syndrome is thus feasible, although neuropathologic studies are needed for a conclusive diagnosis.

Brain Diseases↗

PubMed1991

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.

Brain↗

PubMedDate not supplied

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child.

We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness were noticed early in childhood. Serial magnetic resonance imaging revealed progressive infratentorial atrophy with association of cortical atrophy and corpus callosum hypoplasia. This is an additional case of PEHO syndrome, to our knowledge the first such case from Turkey.

Abnormalities, Multiple↗

PubMed1993

Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).

Uniform neuropathological changes are described in eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (PEHO syndrome). Two of the autopsied patients were sisters and two other cases were familial. Macroscopically, cerebral and pronounced cerebellar atrophy was seen, the essential histopathological 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 although reduced in size, deformed and slightly disaligned. Their dendrites were horizontally oriented and the proximal axons contained abundant torpedoes. The molecular layer was narrow. The optic nerves were atrophic. Serial neuroimaging studies showed that the disease process is operative during the postnatal period, although a prenatal onset cannot be excluded. An aberrant expression of immunoreactivity against the 200-kDa neurofilament polypeptide in Purkinje cell perikarya indicated disorganization of the cytoskeleton of these cells. The combination of clinical and pathological features of our patients differs from that observed in the few published cases of so-called primary degeneration of the granular layer. Infantile cerebello-optic atrophy, clinically characterized by seizures, blindness and early arrest in psychomotor development, thus seems to constitute a new autosomal recessive disorder.

Atrophy↗

PubMed2006

POLG1 mutations associated with progressive encephalopathy in childhood.

We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia compatible with Alpers-Huttenlocher syndrome. Three families harbored a previously reported A467T substitution, which was found in compound with the earlier described G848S or the W748S substitution or a novel R574W substitution. Two families harbored the W748S change in compound with either of 2 novel mutations predicted to give an R232H or M1163R substitution. Muscle morphology showed mitochondrial myopathy with cytochrome c oxidase (COX)-deficient fibers in 4 patients. mtDNA analyses in muscle tissue revealed mtDNA depletion in 3 of the children and mtDNA deletions in the 2 sibling pairs. Neuropathologic investigation in 3 children revealed widespread cortical degeneration with gliosis and subcortical neuronal loss, especially in the thalamus, whereas there were only subcortical neurodegenerative findings in another child. The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.

Adolescent↗

PubMed1997

[A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings].

We reported serial clinical, radiological, and neurophysiological findings of a patient with PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome. The case was a 4-year-and-8-month-old boy. He had no apparent problems during pregnancy, but after his birth severe hypotonia and developmental delay were evident. Infantile spasms appeared at 3 months of age, and progressive opisthotonic posture and loss of his visual acuity at 8 months. Eye fixation was lost, and optic atrophy was observed. Seizures and progressive atrophy of the cerebellum and brainstem developed during the same period. These findings of our case support the hypothesis that brainstem lesions are related to infantile spasms.

Brain Diseases↗

PubMed1995

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings.

We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement and visual failure with optic atrophy were also observed early in infancy. Psychomotor development was arrested and serial neuroradiological studies showed slight progressive brain atrophy, dominantly of the brainstem. This is the first case report of PEHO syndrome, other than those dealing with the Finnish population.

Brain↗

PubMed1994

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents. They presented with progressive encephalopathy, dystonia, leucopenia, and neutropenia. Elevation of lactate in the cerebrospinal fluid and high fumarate excretion in the urine led us to investigate the activities of the respiratory chain and of the Krebs cycle, and to finally identify fumarase deficiency in these two children. The deficiency was profound and present in all tissues investigated, affecting the cytosolic and the mitochondrial fumarase isoenzymes to the same degree. Analysis of fumarase cDNA demonstrated that both patients were homozygous for a missense mutation, a G-955-->C transversion, predicting a Glu-319-->Gln substitution. This substitution occurred in a highly conserved region of the fumarase cDNA. Both parents exhibited half the expected fumarase activity in their lymphocytes and were found to be heterozygous for this substitution. The present study is to our knowledge the first molecular characterization of tricarboxylic acid deficiency, a rare inherited inborn error of metabolism in childhood.

Amino Acid Sequence↗

PubMed1985

Progressive encephalopathy in children with acquired immune deficiency syndrome.

We are reporting the cases of four children with a diagnosis of acquired immune deficiency syndrome (AIDS) who demonstrated a progressive encephalopathy manifested by loss of motor milestones or intellectual abilities, and weakness with pyramidal tract signs. Two patients were ataxic. One child was cortically blind and suffered myoclonic jerks before his death. Two of the patients had isolated seizures at some time during the disease course. Two patients developed secondary microcephaly and all four patients showed cortical atrophy on computed tomographic scanning. Three of the patients died. Postmortem neuropathological findings included gross cortical atrophy, microglial nodules, and intranuclear inclusions, as are described in the subacute encephalitis reported in adult AIDS patients. We propose that the possible pathogenetic mechanisms of this encephalopathy include opportunistic or persistent viral infection of the brain.

Acquired Immunodeficiency Syndrome↗

PubMed1997

Diagnose progressive encephalopathy applying the rough set theory.

This paper describes the application of rough sets theory the problem of the deciding on necessity of further tests and the final decisions about progressive encephalopathy in a child. The final decisions requires a series of invasive tests. Hence it is essential to carry out an appropriate preliminary classification. The process of the preliminary classification of patients with the use of the rough sets theory as to reduce unnecessary tests is the topic of this paper.

Adolescent↗

PubMed1989

Transmission of Alpers' disease (chronic progressive encephalopathy) produces experimental Creutzfeldt-Jakob disease in hamsters.

We successfully and serially transmitted to outbred and inbred strains of hamsters the brain tissue of a 2 1/2-year-old girl with a chronic progressive encephalopathy (Alpers' disease) characterized postmortem as a spongiform encephalopathy. In all hamster strains we produced a spongiform encephalopathy. The light and ultrastructural changes in the brain of hamsters, as well as the clinical signs of experimental disease, are identical to those obtained in transmission experiments of human Creutzfeldt-Jakob disease (CJD). CJD infection may be more widespread than previously recognized and can be manifested in infancy.

Animals↗