Search PubMed⌕ Search

Biomedical subjects

B Hagberg

Publications and source records attributed to B Hagberg.

At least 163 records · Page 9Linked to original sources
PubMed1981

Pooled European series of hereditary peripheral neuropathies in infancy and childhood. A "correspondence work shop" report of the European Federation of Child Neurology Societies (EFCNS).

A European series of 287 cases of "pure" peripheral neuropathy, pooled from 14 neuropediatric centres, has been analysed retrospectively with particular emphasis on the hereditary motor and sensory neuropathies (HMSN) which comprised 241 of the patients. Due to incomplete information in many records it has only been possible to make a crude analysis of the problems of diagnosis and classification. More than half of the HMSN series conform to the diagnosis of HMSN I (charcot-Marie-Tooth-Roussy-Levy disease), A relatively homogeneous group but with large variations in age of onset and severity of disease between individuals in the same family. In five of the 147 cases the onset was at or before birth. An overdiagnosis of HMSN III (Déjérine-Sottas' disease) was considered probable due partly to an unawareness of the high frequency of subclinical carriers among parents in families with HMSN I. Cases with axonal types of polyneuropathy, appearing sporadically or with suspected autosomal dominant (HMSN II) or recessive inheritance, occurred with unexpected frequency in children. This group of 60 pooled European cases was considered worthy of a particularly thorough follow-up and further investigation in order to achieve a better delineation between different subtypes. Cases with an onset before birth or very early in infancy (20 cases) comprised a heterogeneous group with some special subtypes. Surprisingly enough, no less than 5 of the 20 cases represented HMSN I. Cerebrospinal fluid protein levels were not found to be useful for differentiating various types of HMSN. Elevated levels were revealed in about half of the examined cases of HMSN I and in 75% of cases of HMSN III, the levels of increase showing a marked overlap. In nearly all of the axonal cases investigated the CSF protein was normal.

Axons↗
PubMed1981

Serum fatty acid patterns in hereditary motor and sensory neuropathies.

The fatty acid pattern of serum lecithin was studied in 31 children with hereditary motor and sensory neuropathies (HMSN) of types specified in the classification of Dyck et al. (1975). In 30 children no relevant changes were revealed. The remaining patient had changes which were reversible and were considered to be independent of the polyneuropathy. It is concluded that primary defects of fatty acid metabolism do not characterize the well-defined types I, II and III of HMSN.

Adolescent↗
PubMed1981

Mild mental retardation in Swedish school children. I. Prevalence.

In an unselected series of Swedish school children born 1966-70, the prevalence of mild mental retardation, defined as an IQ of 50-70, was determined. A prevalence of 0.4% was revealed. The findings in this study, supported by recent IQ analyses in other Scandinavian countries, indicate that a true prevalence for the IQ range 50-70 was ascertained. The high average social standard and early social stimulation are put forth as a likely explanation for the low prevalence of mild mental retardation in Swedish preschool and school children.

Child↗
PubMed1981

Mild mental retardation in Swedish school children. II. Etiologic and pathogenetic aspects.

The etiology and pathogenesis of mild mental retardation (MMR) (IQ 50--70) were analysed in an unselected series of 91 Swedish school children with this condition born 1966--70. The cause was considered to be prenatal in 23%, including 5% genetic, prenatal unknown in 10% and alcohol fetopathy in 8%. A perinatal cause--mainly asphyxia combined with fetal deprivation--was found in 18% and a postnatal in 2%. In 55% the cause was untraceable. Half of these latter children had close relatives with below-average intelligence. Exceptionally low birth weights and lengths were revealed among the 8% with alcohol fetopathy. Neurological abnormalities were found in 43% of the children, epilepsy in 12%, cerebral palsy in 9% and a clumsy child syndrome in 23%. Psychiatric disturbances were present in 31%.--The types and multitudes of predisposing background factors in MMR were compared with those in severe mental retardation and with those in the IQ group 71--75. The general conclusion is drawn that in Swedish school children negative pre- and perinatal factors are today responsible for a larger proportion of MMR than has previously been known.

Asphyxia Neonatorum↗
PubMed1980

Y-to-X chromosome translocation observed in two generations.

A family is reported in which the mother and two sons are carriers of a Y-X translocation. The distal segment of the short arm of the X chromosome appears to have been deleted to give place to a translocation of the distal part of the long arm of the Y chromosome. Apart from short stature the mother is essentially free of stigmata, while the sons show a combination of mental retardation, hypertelorism, simian creases, clinodactyly, scanty palmar lines, and dry fragile skin. The cases described are discussed against the background of the few known previously published cases.

Adolescent↗
PubMed1980

Gaucher disease--Norrbottnian type. I. General clinical description.

We report follow-up studies of 22 cases of the Norrbottnian type of Gaucher disease ("type III"). The series was divided into 2 main groups of families depending on their birth province (Norrbotten, Västerbotten). The distribution and types of organ manifestations and complications were the same in both groups, each of which was considered to be genotypically homogeneous. The severity of the clinical symptoms and signs and the course of the disease differed markedly not only between families but also between siblings. Splenectomy accelerated deterioration, particularly with regard to skeletal and central nervous system manifestations. On a clinical basis it is concluded that the Norrbottnian type of Gaucher disease, which has now been diagnosed in about 40 cases, is probably due to a unique mutation which may have happened several hundred of years ago in northern Sweden.

Adolescent↗
PubMed1979

EEG and cognitive impairment in presenile dementia.

EEG and psychometric findings were studied in a group of 57 patients consisting of 19 cases of Alzheimer's disease, 7 cases of Pick's disease, 24 cases of cerebrovascular dementia (CVD) and a group of 7 cases with dementia of various other etiology. The diagnoses have so far been confirmed by autopsy in 23 out of 57 cases. EEG was evaluated by means of visual inspection. Psychometric studies enabled a classification into 5 psychometric defect groups according to the degree of dementia. An overall good correlation was found between the degree of dementia and EEG abnormality. A significant correlation between the test socre and the EEG was found only for the vocabulary test and paired associates test. However, on the reaction time test, color word test, and Koh's block design test, large patient groups were untestable, and a highly significant correlation was found between non-testability and severely abnormal EEG. The Alzheimer and the CVD groups differed distinctly, most of the Alzheimer cases showing a severe or moderate degree of EEG abnormality and dementia, whereas in the CVD cases, the dementia was less pronounced and the EEG often normal or only slightly abnormal. Four out of seven cases of Pick's disease had a normal EEG, which distinguished them from the Alzheimer cases which had a comparable psychometric defect.

Adult↗
PubMed1979

Amnestic-confabulatory syndrome in hydrocephalic dementia and Korsakoff's psychosis in alcoholism.

The clinical course of six alcoholics with Korsakoff's psyter shunt operation. The initial clinical state as well as the symptom improvement showed important similarities between the Korsakoff group and the hydrocephalic dementia group, who improved after shunt operation. Fantastic confabulation and appraxia were only observed in the hydrocephalic dementia group. Psychometrically, both groups showed a similar degree of improvement of the initially impaired verbal memory while only the hydrocephalic dementia group showed impairment of spatial abilities indicating a constructional apraxia. It is suggested that the similarities of the two conditions are related to dysfunction of diencephalic and temporal-limbic structures. The constructional and general apraxia as well as the fantastic confabulation in hydrocephalic dementia indicate a cortical, especially frontal cortical, dysfunction in this disorder.

Adult↗
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↗