Kearns-Sayre syndrome with muscle mitochondrial DNA deletion.
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Chromosome Deletion↗
Biomedical subjects
G Ponsot
Publications and source records attributed to G Ponsot.
Interferon gamma in acute and subacute encephalitis.
Intrathecal synthesis of interferon gamma was shown in 14 out of 16 samples of cerebrospinal fluid collected in the first days of disease in adults, children, and newborn infants with herpes encephalitis. This synthesis was concomitant with that of interferon alpha and was switched off when the specific antibodies in the central nervous system increased. No endogenous interferon gamma was detected in 11 serum samples or 13 samples of cerebrospinal fluid collected early in the course of the disease from patients with measles encephalitis and rubella encephalitis, or in serum and cerebrospinal fluid samples from seven patients with subacute sclerosing panencephalitis. In serum collected after the 10th day after the onset of neurological symptoms interferon gamma was present at low concentrations in only three out of 11 serum specimens from patients with measles encephalitis or rubella encephalitis. Interferon gamma was present in patients with acute herpes encephalitis and there was active virus replication, but it was not present in postinfectious encephalitis. Possibly the local production of specific antibodies masks the viral antigens and switches off the induction of interferons.
Acute Disease↗
Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy.
IFN-alpha was detected in cerebrospinal fluid and/or sera from 7 of 8 patients with a progressive familial encephalopathy associated with calcifications of the basal ganglia and white matter alterations. The secretion of IFN-alpha was prolonged, as shown by its presence at different times between birth and 5 years, and was not associated with IFN-gamma. Virological investigations excluded various congenital infections. In only 2 patients, high levels of Epstein-Barr virus antibodies were observed, indicating the possibility of an abnormal response to viral infection rather than a congenital infection. Further investigations are required for characterization of the recessive autosomal trait of this syndrome and its relation to the IFN system.
Antibodies, Viral↗
[Myoclonic epilepsy with non-progressive encephalopathy].
We report 6 cases of particular type of myoclonic epilepsy with non-progressive encephalopathy. It consists of a syndrome characterized by an onset of seizures in the first year of life, frequent myoclonic status, generalized spikes and waves on EEG and an unfavourable outcome with encephalopathy. At the beginning, the diagnosis is difficult, the symptomatology later suggests a progressive encephalopathy. In the present study, a detailed analysis of the early electroencephalographic aspects and of the arguments in favour of a non-progressive encephalopathy is proposed. Hypothesis of perinatal vascular lesions mainly involving the central areas is forwarded.
Adult↗
Multiple sclerosis in children: report of clinical and paraclinical features of 19 cases.
We report our experience concerning clinical and paraclinical features of multiple sclerosis in 19 children. The disease was highly variable in its presentation but acute episodes of retrobulbar optic neuritis or transverse myelitis or cerebellitis were commonly observed at the onset. Diagnosis was very often suspected as soon as the first episode when there was clinical evidence of more than one lesion (43%) or study of the cerebrospinal fluid demonstrated a local secretion of immunoglobulins (60%). Evoked potential studies and nuclear magnetic resonance imaging were performed during the course of the disease and exhibited abnormalities of the kind observed in adult patients and with a similar frequency; this suggests that such studies can be very useful in the evaluation of children suspected of having multiple sclerosis. When the initial form of the disease was a chronic myelopathy, the course was progressive from the onset, leading rapidly to a marked invalidity (15%). Most often a succession of relapses and remissions occurred after the first attack and major sequelae appeared 5 to 10 years later. Such features are not very different from those observed in adult patients and suggest that these patients can benefit from the progress resulting from therapeutic trials in adult patients.
Adolescent↗
Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.
A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions.
Biopsy↗
Soluble IL-2 receptors in acute and subacute encephalitis.
Elevated levels of soluble interleukin-2 receptors were present in the serum from patients with acute primary and postinfectious encephalitis and subacute sclerosing panencephalitis. In addition, soluble interleukin-2 receptors were detected in the cerebrospinal fluid from patients with acute primary encephalitis. Their presence in the cerebrospinal fluid was not explained by damage to the blood-brain barrier and our data attest to their local origin. This suggests that it may be possible in certain neurological diseases to detect cerebral T-lymphocyte activation through a specific marker in the cerebrospinal fluid.
Adult↗
Hemimegalencephaly: MR imaging in five children.
Hemimegalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia. Infants with the condition present with early seizures and severe encephalopathy. Five patients were studied with computed tomography and magnetic resonance (MR) imaging. MR imaging was the most efficient diagnostic method for this rare entity. It demonstrated brain hemispheric hypertrophy with lateral ventricle dilatation, abnormal gyral pattern, and a thick cortex on the enlarged side. The images correlate well with the known pathologic data.
Brain↗
Focal cortical dysplasia. A rare cause of epilepsy.
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Cerebral Cortex↗
IgG (Gm) allotypes in acute measles encephalomyelitis and subacute sclerosing panencephalitis.
Gm phenotype or haplotype frequencies are known to be increased in some neurological diseases involving dysregulation(s) of the immune system. Therefore, possible associations between acute measles encephalitis (AME) or subacute sclerosing panencephalitis (SSPE) and alleles of the Gm system were investigated by comparison of children (41 AME subjects and 62 SSPE subjects) with 378 ethnically and geographically matched controls. Although the Gm3;..;11 haplotype displayed a very low frequency among SSPE children, no statistically significant departure in the distribution of Gm phenotypes could be evidenced between AME or SSPE, and controls. A further appraisal of combined Gm and HLA phenotypes may be warranted in both diseases since Gm/HLA interactions have been demonstrated in other immunopathological conditions.
Adolescent↗
[Immunoallergic tubulo-interstitial nephritis following ingestion of carbamazepine].
One month after taking carbamazepine for pain relief, a 13 year-old child with Friedrich's ataxia presented with an allergic rash and digestive and cardiac symptoms. Two weeks later, non-oliguric renal failure suggestive of interstitial nephritis was present. Acute renal failure resolved with pulse methyl prednisolone injections relayed with prednisone orally, for 2 months. Allergic manifestations with carbamazepine should lead to immediate withdrawal of treatment.
Adolescent↗
HLA antigens in acute measles encephalitis.
The frequency of HLA-A, B, DR antigens was studied in 24 patients with acute measles encephalomyelitis compared to 1926 control subjects. The results demonstrated no association between the susceptibility to the disease and HLA markers. However, DR4 was observed in 6 patients out of 10 who developed intrathecal secretion of specific antimeasles immunoglobulins, while absent in 4 patients, who did not (p less than 0.04). Further studies on a larger series are needed.
Child↗
[Lyme disease. Apropos of a case in children].
A case of Lyme disease with purely neurological manifestations is reported in an 11 year-old girl. Positive blood and cerebrospinal fluid serology allowed for diagnosis. Treatment with Penicillin led to favourable outcome. Atypical manifestations and treatment of Lyme disease are reviewed.
Child↗
[Diagnosis and management of acute viral meningoencephalitis].
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Acyclovir↗
Detection of measles virus RNA in lymphocytes from peripheral-blood and brain perivascular infiltrates of patients with subacute sclerosing panencephalitis.
To clarify the relation between lymphocytes and measles virus in subacute sclerosing panencephalitis, we used in situ hybridization and a cloned measles virus DNA probe, specific for nucleocapsid protein, to detect measles virus RNA sequences in circulating lymphocytes and brain perivascular cuffs of patients with subacute sclerosing panencephalitis. Seventy to 90 per cent of peripheral mononuclear cells from three such patients were found to contain measles virus RNA sequences. In contrast, only a few infected cells were observed in four seropositive adults (0.1 to 5 per cent) and three age-matched children (10 to 15 per cent) used as controls. In one sample of brain tissue from a patient with subacute sclerosing panencephalitis, viral RNA sequences were also detected in nerve cells and in numerous cells from the perivascular infiltrates. In contrast, no hybridization was observed in brain tissue from a patient with herpetic encephalitis and from a patient with postlymphoma encephalitis. We conclude that measles virus has a strong tropism for lymphocytes and nerve cells in subacute sclerosing panencephalitis and that lymphocytes may be involved in the pathogenesis of the disease.
Adult↗
Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases.
CSF and sera from 238 newborns and children with various neurological diseases were assayed on bovine cells for the presence of alpha-interferon (IFN). An intrathecal synthesis of pH 2-resistant alpha-IFN was recovered in all newborns and in more than 90% of children with herpes encephalitis. It was also observed in one case of mumps encephalitis and in one case of encephalitis associated with Influenza A infection. An acid-labile alpha-IFN production was detected in CSF from more than one half of patients with viral meningitis or active congenital rubella and in those with neurological complications of systemic lupus erythematosus. This alpha-IFN subtype was also detected in CSF from only 2/37 children with measles encephalitis. In contrast, no alpha-IFN (less than 2 IU) in CSF was found among patients with subacute sclerosing panencephalitis, Guillain-Barré syndrome, Reye's syndrome, acute cerebellar ataxia, infantile spasms or facial paralysis of unknown origin.
Acute Disease↗
Hematoma of the brainstem in childhood.
Hematomas of the brainstem are revealed by signs of brainstem dysfunction. Sudden onset is characteristic but only demonstration of subarachnoid hemorrhage and typical CT-Scan appearance are diagnostic. Surgical evacuation of the hematoma may help in the acute stage but does not avoid recurrence; pronosis is guarded.
Brain Stem↗
[Non-progressive congenital cerebellar ataxia].
The authors studied the main clinical and genetic aspects of congenital cerebellar ataxia in children, from the data obtained in 121 cases. The case reports were divided into 2 groups, according to the severity of the static ataxia. In the absence of absolute criteria allowing the recognition of the various forms of congenital cerebellar ataxia, they give the following genetic counsel: in cases with congenital cerebellar ataxia of unknown origin, the risk or recurrence is higher in cases with severe static ataxia (near 25%) but not negligible in the other types of ataxia, especially in cases associated with severe mental retardation (risk between 5 and 10%).
Adolescent↗