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Biomedical subjects

L Valanne

Publications and source records attributed to L Valanne.

17 recordsLinked to original sources
PubMed1997

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed1996

Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations.

Laminar cortical necrosis has been described in many conditions of cellular energy depletion, such as hypoxia and hypoglycemia. In MELAS, a genetic defect in mitochondrial protein synthesis leads to impairment of oxidative phosphorylation, with subsequent insufficient energy production within the cell. Neurons are more vulnerable to energy depletion than glial cells and vascular elements, and among the layers of the cerebral cortex the lower laminae are more vulnerable than the superficial layers. We studied a child with severe MELAS syndrome two months before death with MR and compared the images to autopsy findings, including macroscopic specimens and light and electron microscopy. The MR images showed an excellent correlation with the neuropathological results and displayed the various degrees of damage to the brain tissue caused by deficient energy production. Acute laminar cortical necrosis was seen as swelling of the cortex with intracortical hyperintense bands in T2-weighted images. The subacute stage with focal cortical hemorrhage was displayed as hyperintensity of the gyral surface in T1-weighted and hypointensity in T2-weighted images, with T2-hyperintensity and swelling of the rest of the cortex and underlying white matter. Severe cortical atrophy represented the chronic stage.

Atrophy↗
PubMed1996

Cognitive impairment after acute encephalitis: comparison of herpes simplex and other aetiologies.

OBJECTIVE: To compare the cognitive defects after acute acyclovir treated herpes simplex encephalitis with those after other types of acute encephalitis. METHODS: Seventy seven consecutive patients between 1985 and 1995 and 29 normal controls were studied. Of the 77 patients without concomitant neurological conditions, 17 had herpes simplex, one virus encephalitis (HSVE group), 27 had some other identified aetiology (non-HSVE group), and in 33 patients the cause was unknown. Acyclovir treatment was started less than four days after the first mental symptoms in 12 of 17 patients with HSVE. A thorough neuropsychological assessment was carried out about one month after the onset. RESULTS: The HSVE group had deficits in verbal memory, verbal-semantic functions, and visuoperceptual functions more often than the non-HSVE group. The risk for cognitive defects was twofold to four-fold in the patients with HSVE compared with the non-HSVE patients. Two (12%) of the patients with HSVE and 12 (44%) of the non-HSVE patients were cognitively intact. Six patients with HSVE (46%) and 17 (89%) non-HSVE patients later returned to work. The lesions on CT or MRI were bilateral only in one patient with HSVE. The defects in the three patients with adenovirus infection were severe and resembled the amnesia after HSVE. Cognitive impairment, not previously reported, was found in encephalitis after rotavirus infection and epidemic nephropathy. CONCLUSION: The recovery in the HSVE group was better than expected based on the medical literature. On the other hand there were surprisingly severe cognitive defects in encephalitis after other viruses. With early acyclovir treatment patients with the least severe HSVE were equivalent to those with non-HSV encephalitis with good outcome whereas those with the most severe non-HSV encephalitis were equivalent to those with HSVE with poor outcome.

Acute Disease↗
PubMed1995

Isolated retrograde amnesia for autobiographical material associated with acute left temporal lobe encephalitis.

Retrograde amnesia for autobiographical material in the absence of anterograde amnesia or other memory disturbances was found in a patient with acute viral encephalitis. Memory loss showed a temporal gradient, but new learning was spared. Both brain perfusion imaging with 99mTc-HMPAO SPECT, and EEG localized the lesion in the left temporal lobe while CT and MRI were normal. This observation supports the anatomical differentiation between the different memory functions. The uncommon combination of isolated retrograde amnesia without other neuropsychological findings may raise the doubt of psychogenic aetiology, which in this case was refuted.

Adult↗
PubMed1995

Infantile-onset spinocerebellar ataxia: MR and CT findings.

PURPOSE: To report the MR and CT findings in a hereditary disease, infantile-onset spinocerebellar ataxia (IOSCA). METHODS: We studied the brains of 17 patients with infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem atrophy and parenchymal lesions. RESULTS: Cerebellar cortical atrophy was seen in 13 patients. The degree of atrophy correlated with increasing age and clinical deterioration. Brain stem atrophy was seen in 8 patients. It was never severe, and the basis pontis was not flattened even in the most severe cases. Hyperintense lesions were noted within the white matter of cerebellum, in the dentate nuclei, and in the middle cerebellar peduncles in 3 patients. The upper cervical cord was seen in 9 patients and showed mild to moderate atrophy in 4. The basal ganglia and cerebral hemispheres were normal, except in 2 patients transient cortical and subcortical lesions developed during episodes of status epilepticus; mild cortical brain atrophy subsequently developed. CONCLUSION: The brain MR and CT findings of patients with infantile-onset spinocerebellar ataxia correspond to the neuropathologic entities of cerebellar cortical atrophy, olivopontocerebellar atrophy, and spinocerebellar atrophy. The appearance of the findings followed a uniform time sequence from cerebellar cortical atrophy in the early stage of the disease to olivopontocerebellar atrophy and spinocerebellar atrophy in the later stage. The severity of atrophy correlated with clinical deterioration.

Adolescent↗
PubMed1994

MRI of the brain in muscle-eye-brain (MEB) disease.

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.

Adolescent↗
PubMed1993

Transient ischemic cerebral lesions during induction chemotherapy for acute lymphoblastic leukemia.

Ninety children were treated for acute lymphoblastic leukemia or non-Hodgkin lymphoma during 1986 through 1992 in the Children's Hospital, University of Helsinki, in Finland. During induction chemotherapy, nine of the children had visual hallucinations progressing to confusion and seizure. The symptoms were often preceded by severe constipation and significantly elevated blood pressure. Neuroradiologic examinations showed bilateral cortical or subcortical white matter lesions. Despite the stroke like manifestations, the lesions were reversible. The triangular shape and location of the lesions in the watershed areas between the major cerebral arteries suggest vascular ischemia as the cause.

Adolescent↗
PubMed1992

Radiological study of the brain at various stages of human immunodeficiency virus infection: early development of brain atrophy.

One hundred and one persons infected with human immunodeficiency virus (HIV-1), in whom other central nervous system infections or diseases were excluded, underwent brain CT and/or MRI at various stages of HIV-1 infection: 29 were asymptomatic (ASX), 35 had lymphadenopathy syndrome (LAS), 17 had AIDS-related complex (ARC), and 20 had AIDS. A control group of 32 HIV-1-seronegative healthy persons underwent brain MRI. The most common finding was brain atrophy, found in 9% of controls, and 31% of ASX cases, 29% of LAS, 59% of ARC and 70% of AIDS. Even the difference between the ASX or LAS groups and controls was significant. The changes were bilateral and symmetrical, and they were more severe at later stages of infection. Infratentorial atrophy was seen in the early stages; supratentorial atrophy became more pronounced at ARC, and generalized atrophy was typical of AIDS. Non-specific small hyperintense foci were found on MRI in 13% of controls and 6-15% of the infected groups. Larger, diffuse, bilateral white matter infiltrates were detected in 4 demented patients with AIDS. Four patients with AIDS and 1 with LAS had focal hyperintense lesions in the internal capsules, lentiform nuclei or thalamus, often bilateral on MRI. One patient with AIDS, examined with CT only, had low density in the lentiform nucleus. Loss of brain parenchyma can occur at an early stage of HIV-1 infection, and the atrophic process becomes more intense at later stages (ARC and AIDS). Parenchymal infiltration, seen as hyperintense areas on MRI, is most often associated with severe clinical symptoms, in the later stages of the disease.

Acquired Immunodeficiency Syndrome↗
PubMed1992

CNS in congenital muscular dystrophy without mental retardation.

We have evaluated the CNS findings of 30 patients with congenital muscular dystrophy and normal mental development. The intelligence was estimated by psychological testing or school performance. There were more children of above average intelligence than expected. Neuroradiological examination was done to 15/17 patients still alive. White matter changes were seen in five and cerebral atrophy in four patients. Three patients had epilepsy, two mild, one drug resistant. The EEG did not reveal any common pattern, though there were various abnormalities in several children.

Achievement↗
PubMed1992

Familial multiple sclerosis: MRI findings in clinically affected and unaffected siblings.

Subclinical demyelinating lesions may occur in the brains of asymptomatic individuals, and the first-degree relatives of multiple sclerosis (MS) patients are at particular risk. Clinical and MRI examinations were performed in nine sibships from families with two or more cases of MS. These included 14 patients with clinically definite MS, three patients with clinically probable MS, and 27 asymptomatic siblings. Systematic criteria were applied to MRI interpretations to increase their specificity for MS. Thirteen (76%) of the 17 patients with MS showed lesions suggesting MS. Lesions were also found in six (38%) of the 16 asymptomatic siblings under age 50 and in eight (73%) of the 11 over age 50. Judged by stringent criteria, the lesions of only three (11%) of the 27 asymptomatic siblings were considered to be due to demyelination. The results demonstrate the occurrence of subclinical demyelination in asymptomatic siblings of MS patients and stress the importance of clinical follow up and MRI studies of the first-degree relatives when classifying them as healthy in family studies.

Adult↗
PubMed1991

Auditory evoked magnetic fields after ischemic brain lesions.

Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. In 1 patient with a large but less deep frontotemporal lesion, a small N100m could be discerned on the defective side. Frontal lesions or small lesions in the vicinity of the supratemporal plane had no effect on N100m. Auditory evoked magnetic field recordings may be useful in clinical studies of auditory cortical functions.

Adolescent↗
PubMed1990

Mild brain atrophy in early HIV infection: the lack of association with cognitive deficits and HIV-specific intrathecal immune response.

Brain MRI and/or CT were performed on 72 HIV-infected patients at various stages of the disease, and on 34 controls. The neuroradiological findings were related to duration of the infection, neurological symptoms, and cognitive abnormalities as well as to immunological findings in the CSF and blood. All types of brain atrophy were more severe and more frequent in HIV-infected subjects than in controls. Patients with neurological symptoms, those with advanced HIV infection, and patients with a duration of HIV infection of more than 4 years showed the most severe and most frequent neuroradiological abnormalities, including central and cortical atrophy, brain stem atrophy, and cerebellar atrophy. Subjects with cognitive defects exhibited more severe central atrophy than cognitively intact patients. However, slight brain atrophy and/or parenchymal lesions were found in 57% of cognitively intact HIV-seropositive individuals. Patients with brain atrophy and those with radiologically normal brain, both showed increased intrathecal synthesis of total IgG, and intrathecal HIV-antibody synthesis. However, a declined general immune response and a lowered CSF leukocyte count were seen predominantly in patients with brain atrophy. The results suggest that subcortical, neurologically "silent" areas of brain white matter are an early target of HIV infection.

AIDS Dementia Complex↗
PubMed1988

Closed cervicocranial trauma, "false aneurysm" of the internal carotid artery and brain infarction.

A 17-year-old man developed acute hemiparesis 6 months after a motor cycle accident. In the accident he had a closed trauma on the contralateral side of the head and the neck, with multiple bone fractures. Aortocervical angiography, performed after the infarction, revealed a 2.5 cm long aneurysmatic dilatation in the internal carotid artery, the presumably source of embolic infarction. This and the 24 other cases gathered from the literature support the notion that closed neck trauma may create "false aneurysm" which again may cause neurological deficits.

Accidents, Traffic↗
PubMedDate not supplied

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.

Adolescent↗