ABSTRACT
AIM: Mitochondrial disease is a heterogeneous disorder entity induced by defects in the mitochondrial respiratory chain complex. Neurological symptoms, including epilepsy, are common in children. The aim of this study was to research the clinical signs indicating mitochondrial disease. METHODS: We retrospectively studied epileptic children who underwent a muscle and/or hepatic biopsy between 1995 and 2010 searching for a mitochondrial disease. Patients were separated into 2 groups depending on the biopsy result: group 1 (presence of mitochondrial disease) and group 2 (absence of mitochondrial disease). Epileptic phenotypes were compared between these 2 groups. In group 1, we specified the clinical phenotype and characterized mitochondrial disease. RESULTS: Fifty-three children were included: 29 in group 1 and 24 in group 2. The average age at onset of epilepsy was 39.6 months in group 1 versus 11.8 months in group 2. In the 1st group, epilepsy was less refractory and associated with other clinical symptoms. CONCLUSIONS: In this study, epilepsy did not appear to be a unique sign of mitochondrial disease. It most often appeared during the 2nd year of life and is correlated with multiorgan involvement, notably ophthalmologic, such as oculomotor apraxia, optic atrophy, and retinitis pigmentosa, as well as auditory (deafness) and hepatic (hepatic failure, hepatomegaly). On the other hand, in children who did not have mitochondrial disease, epilepsy often began earlier (before 3 months of age), it was refractory, isolated without multiorgan involvement, and seems to be due to genetic anomalies in developmental genes, a finding that requires further research.
Subject(s)
Epilepsy/complications , Mitochondrial Diseases/complications , Biopsy , Child , Child, Preschool , DNA, Mitochondrial/genetics , Female , Humans , Infant , Male , Mitochondrial Diseases/diagnosis , Muscle, Skeletal/pathology , Mutation , Retrospective StudiesABSTRACT
UNLABELLED: The aim of this study was to look over the neurological disorders associated with Down syndrome. MATERIAL AND METHOD: We reviewed 12 patients with Down syndrome hospitalized from 1997 to 2003, suffering from various neurological complications. RESULTS: Among the 5 patients with epilepsy, 3 presented with West syndrome and 2 with partial epilepsy; after treatment all were seizure-free. Four patients had ischemic lesions; 1 presented with Moya-Moya syndrome. Four patients presented with C1-C2 vertebral dislocation; all underwent surgery. One of the patients with epilepsy had neurological ischemic sequelae. CONCLUSION: West syndrome is the most frequent type of epilepsy encountered in Down syndrome. Outcome is favourable if appropriate treatment is initiated early. Any suspicion or sign of vascular lesion in patients with Down syndrome should be promptly investigated. The hyperlaxity associated with Down syndrome could lead to C1-C2 dislocation and a systematic screening is mandatory in order to avoid neurological complications.
Subject(s)
Nervous System Diseases/complications , Adolescent , Adult , Age of Onset , Central Nervous System Diseases/complications , Child , Down Syndrome/complications , Epilepsy/complications , Female , Humans , Male , Moyamoya Disease/complications , Patient Selection , Retrospective StudiesABSTRACT
We report here the case of a three-year-old boy presenting with an optic neuritis during the invasive phase of a chicken pox. This clinical, infrequent picture, can be directly due to the virus or be secondary to an auto-immune mechanism. The examination of the ocular fundus, the profile of the spinal fluid, the MRI and the measure of visual evoked potential allow to reach diagnosis and to identify the type of lesion. There is no consensus on the treatment of this optic neuritis and the current attitude is therapeutic abstention because of a rapid spontaneous improvement. Cerebellitis, meningitis can also be seen during chicken pox. Their evolution is quickly favorable, not requiring additional exam. Encephalitis can result from an auto-immune lesion of the white matter and require then the use of corticoids with antiviral drugs.
Subject(s)
Chickenpox/complications , Encephalitis, Viral/etiology , Optic Neuritis/etiology , Acyclovir/administration & dosage , Acyclovir/therapeutic use , Antiviral Agents/administration & dosage , Antiviral Agents/therapeutic use , Ataxia/etiology , Chickenpox/drug therapy , Chickenpox/immunology , Child, Preschool , Electroencephalography , Encephalitis, Viral/diagnosis , Evoked Potentials, Visual , Follow-Up Studies , Fundus Oculi , Humans , Magnetic Resonance Imaging , Male , Myoclonus/etiology , Optic Neuritis/diagnosis , Optic Neuritis/drug therapy , Prognosis , Time FactorsABSTRACT
CASE REPORT: A 13-year-old girl with an immunosuppression developed a right hemiparesis and a cerebellar syndrome. She was seropositive for HIV. A progressive multifocal leukoencephalopathy (PML) was suspected because of white matter lesions (MRI) and established on detection of JC virus in CSF by polymerase chain reaction (PCR). In spite of highly active antiretroviral treatment (HAART) and cidofovir, she died three months later. CONCLUSION: Late AIDS diagnosis was established during a neurological complication, 13 years after a neonatal transmission. PML caused by JC opportunistic virus still has a poor prognosis.
Subject(s)
Acquired Immunodeficiency Syndrome/diagnosis , Cytosine/analogs & derivatives , Leukoencephalopathy, Progressive Multifocal/etiology , Organophosphonates , Acquired Immunodeficiency Syndrome/drug therapy , Acquired Immunodeficiency Syndrome/mortality , Acquired Immunodeficiency Syndrome/transmission , Adolescent , Age Factors , Anti-HIV Agents/therapeutic use , Antiretroviral Therapy, Highly Active , Cerebrospinal Fluid/virology , Cidofovir , Cytosine/therapeutic use , Female , HIV Seropositivity , Humans , Infectious Disease Transmission, Vertical , JC Virus/isolation & purification , Leukoencephalopathy, Progressive Multifocal/cerebrospinal fluid , Leukoencephalopathy, Progressive Multifocal/diagnosis , Leukoencephalopathy, Progressive Multifocal/mortality , Magnetic Resonance Imaging , Organophosphorus Compounds/therapeutic use , Polymerase Chain Reaction , Prognosis , Time FactorsABSTRACT
Learning disability and cerebral palsy are often related to factors present before birth. We report three patients (two with schizencephaly, one with unilateral cerebellar agenesis) in whom the timing of an insult to the foetus was known. In the first case, the mother had a trauma at 16 weeks of pregnancy and schizencephaly was discovered in the male infant associated with a left hemiplegia. In the second child, amniocentesis performed at 16 weeks into pregnancy may have been responsible for the same cortical anomaly. In the third case, sequential foetal echographies clearly demonstrated that an apparent unilateral cerebellar agenesis was related to an haemorrhagic event secondary to cerebellar trauma that occurred at 19 weeks of pregnancy. It is suggested that these brain malformations are related to an ischemic mechanism or a traumatic event in foetal life.
