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Biomedical subjects

B Westerberg

Publications and source records attributed to B Westerberg.

15 recordsLinked to original sources
PubMed2003

Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.

We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor development was delayed, although mental development seemed normal until eight months of age. Early neurological signs were nystagmus, hypertonus and optic atrophy. Severe seizures and mental retardation developed subsequently. Major findings on neuroradiological investigation were from the brainstem, thalami and white matter compatible with LS. Spectrophotometric analysis of skeletal muscle mitochondria showed a profound COX deficiency and a marked complex I deficiency. Enzyme-histochemical analysis showed reduced COX activity in the majority of the muscle fibres. There were no ragged red fibres. The T 5537i mutation was found in a high proportion (> 95 %) in blood, liver and muscle tissue of the patient and in blood of the patient's mother (81 %). This mutation has previously been described in one family in which one child had a very high proportion of the T 5537i mutation and clinical features of LS. We conclude that, although mtDNA mutations are considered to be rare in LS with COX deficiency, the T 5537i mutation should be screened for in cases of LS with COX deficiency when SURF1 gene mutations have been excluded, especially when complex I activity is also decreased.

Child↗
PubMed1994

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in all these cases the duplication was seen. In six patients in three families with Charcot-Marie-Tooth type 1 the pedigrees strongly suggested autosomal recessive inheritance. In two patients DNA analysis was not informative but in the others no duplication was shown. There were also 11 "sporadic" patients and one pair of sibs classified as Charcot-Marie-Tooth type 1, but there was no duplication shown although in four patients DNA analysis was not informative. In nine patients with Charcot-Marie-Tooth type 2 from five families and in 13 unaffected relatives of Charcot-Marie-Tooth patients the CMT1a duplication was not found.

Adolescent↗
PubMed1987

Mild mental retardation in Gothenburg children born between 1966-70. Changes between two points of time.

Changes between two points of time in prevalence rates and distribution of IQ values in mentally retarded children resident in Gothenburg, Sweden, and born between 1966-70 were analysed. The children at the first census date in 1978 were aged 8-12 years and at the second in 1984 aged 14-18 years. The population-based prevalence rates were 3.7 per 1,000 in 1978 and 3.9 in 1984 for mild mental retardation (MMR; IQ 50-70) and 3.0 and 3.3 respectively for severe mental retardation (SMR; IQ less than 50). The majority (82%) of the MMR children remained on the same intellectual and educational level. The changes that occurred were mainly downwards. Thirteen of the 91 MMR children in the 1978 series demonstrated IQ values below 50 by 1984. Ten of these 13 children had a clear biomedical origin for their retardation, e.g. six with cerebral palsy syndromes. The IQ level of three MMR children had improved to 71-85. Nineteen newcomers were identified as MMR. 14 of these had IQ test scores above 70 in 1978 including one with cerebral palsy and 5 with minimal brain dysfunction syndromes. The prevalence of children registered in the Board for Provisions and Services to the Mentally Retarded, all IQ categories included, increased from 6.7 per 1,000 in 1978 to 8.1 in 1984. One third of this increase was due to the greater recording of youths with an IQ above 75.

Adolescent↗
PubMed1984

Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children. Ultrastructural and morphometric studies on sural nerve biopsy specimens from ten sporadic cases.

Ten autosomal recessive/sporadic cases of hereditary motor and sensory neuropathy type I (HMSN I), nine of which originated from the northern part of Sweden, were included in the study. Parents were free from neurologic symptoms. Motor and sensory conduction velocity was normal when recorded, i.e., in 19 and 17 parents, respectively. Sural nerve biopsies from the ten cases revealed a varying degree of onion bulb formation. In eight of the cases the onion bulbs consisted of abundant basement membranes, whereas the Schwann cells were few and sometimes lacking. There were in some cases considerable differences between separate fascicles as to the loss of myelinated nerve fibers. In the six biopsies in which teasing was performed signs of present and previous demyelination were noticed. Numerous internodal segments were abnormally thin with reference to their length. In many such segments there were marked local thickenings of the nerve fiber. In cross sections the probable counterparts to these thickenings were nerve fibers with unduly thick myelin sheaths and complex folding of the myelin. Ultrastructural axonal changes were seen in the majority of the cases. The pathogenetic and diagnostic implications of the present findings are discussed.

Adolescent↗
PubMed1984

Delineation of a characteristic phenotype in distal trisomy 2q.

A recombinant chromosome change with dup(2)(q34----qter) secondary to a paternal inv(2) (pter----q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. Hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.

Abnormalities, Multiple↗
PubMed1983

The nosology of genetic peripheral neuropathies in Swedish children.

103 consecutive childhood cases of genetic peripheral neuropathies of heredodegenerative background were collected from Gothenburg from 1973 to 1980. From this series, 63 hereditary motor and sensory neuropathies (HMSN) were distinguished: 31 cases of demyelinating and remyelinating HMSN (HMSN I), 21 (18 families) with an autosomal dominant and 10 with sporadic mode of inheritance and unaffected parents; and 32 cases of neuronal-axonal types (HMSN II), 27 of whom (25 families) had at least one affected, if asymptomatic, parent. In one family, both parents were neurologically and neurophysiologically completely normal. Three cases of uncharacteristic HSN were diagnosed. Among 37 cases with a combined degenerative encephalopathy/myelopathy and a peripheral neuropathy, nine had hereditary spastic paraplegia, six had heredoataxias (three of the Friedreich type), nine had lysosomal storage diseases (five of the Krabbe type), seven had other known inborn metabolic errors and six had biochemically undefined disorders. Progressive neuropathies are important manifestations of a large variety of genetically determined heredodegenerative neurological disorders of infancy and childhood. For classification of HMSN, clinical and neurophysiological examinations are necessary for the index case and for both parents as well.

Biopsy↗
PubMed1983

Hereditary motor and sensory neuropathies in Swedish children. I. Prevalence and distribution by disability groups.

The prevalence of hereditary motor and sensory neuropathies (HMSN) and their distribution according to the severity of the disability were studied in a population-based series of Swedish children 2-15 years old. The prevalence per 100 000 of total peroneal muscle atrophies was 21.6 and of all clinical HMSN 19.0 Among HMSN, de- and remyelinating types (HMSN I) constituted 8 per 100000 and neuronal-axonal types (HMSN II) 11. Eighteen of the 21 HMSN I cases and 26 of the 29 HMSN II were considered to represent an autosomal dominant mode of inheritance. Ten per cent of all children were severely, 70% moderately and 20% mildly disabled. All the severely affected children belonged to the HMSN I group and 9 of the 10 mildly affected to HMSN II.

Adolescent↗
PubMed1983

Hereditary motor and sensory neuropathies in Swedish children. III. De- and remyelinating type in 10 sporadic cases.

Clinical, neurophysiological and certain other laboratory data are given for 10 children considered to represent sporadic cases of de- and remyelinating hereditary motor and sensory neuropathies (HMSN). In all 10 families the parents had been found to be non-affected and said to be non-consanguineous. Nine of the 10 families originated from the two most northerly Swedish counties, but none from the Gothenburg area. The median age at clinical onset was 3 years. Gait abnormalities and/or foot deformities were common reasons for referral. Scoliosis developed in all 10 and hand atrophies in 7 children. In the majority there was neurological deterioration through childhood. Nerve conduction velocities, both motor and sensory, were consistently and markedly reduced. The protein level in cerebrospinal fluid (medium 657 mg/l) was slightly to moderately raised in 7 of 9 examined children and greater than or equal to 1 500 mg/l in the remaining two. The fatty acid pattern of serum lecithin was consistently normal in all 10.

Adolescent↗
PubMed1983

Hereditary motor and sensory neuropathies in Swedish children. II. Neuronal-axonal types.

Clinical, neurophysiological and laboratory data are given for 32 children (30 kinships) considered to represent hereditary motor and sensory neurophaties (HMSN) of neuronal-axonal types. In 25 families (27 cases) one of the parents was found to be affected. In one both parents were normal. The mode of inheritance in the 27 patients with familial neuronal-axonal HMSN was concluded to be autosomal dominant HMSN II (Lambert type). The disability was mild to moderate and, on an average, less pronounced than in de- and remyelinating types of HMSN. Seven out of 27 were early toe-walkers of the secondary type. Cavus feet were noted in 25, hand atrophies in eight and mild scoliosis in five. Sensory complaints were recorded in 21. The nerve conduction velocities (NCVm and NCVs) of children and parents were slightly subnormal in a few. EMG proved to be the most important parameter for identifying subclinically affected parents.

Axons↗
PubMed1981

A new type of non-progressive sensory neuropathy in children with atypical dysautonomia.

Three cases of non-progressive, sensory neuropathy with dysautonomia are presented. Light and electron microscopy on whole sural nerve biopsies revealed an almost total lack of myelinated nerve fibres. The total fibre count was also reduced as was the total number of Schwann cell nuclei. No degenerative phenomena were seen within the nerve fibres. The aberrations are probably caused by a maldevelopment of the neural crest implying a stunted proliferation and growth of sensory and autonomous neurones as well as a reduced proliferation of Schwann cells. Since the morphology and clinical features differ from that in other cases of sensory neuropathy with dysautonomia the three present cases are considered to represent a new type of the disease.

Biopsy↗
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↗