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Biomedical subjects

H G Dunn

Publications and source records attributed to H G Dunn.

At least 37 records · Page 2Linked to original sources
PubMed1983

Cytoplasmic body myopathy. Report on a family and review of the literature.

A 15-year-old girl who was seen for scoliosis presented with cardiorespiratory failure associated with a respiratory infection. She was found to have weakness predominant in the face, sternomastoid, proximal limb, respiratory, spinal and cardiac muscles. The serum creatine kinase level was slightly elevated and the electrocardiogram was abnormal. The electromyograph was consistent with a myopathy. The course was malignant. Her 14-year-old brother had similar findings and succumbed at the age of 14 and one-half years from cardiorespiratory failure. The mother had minimal weakness of proximal limb muscles since early life. The tendon reflexes were normal as was the serum creatine kinase level. The course was benign. On light microscopy the muscle biopsy in the girl showed fibre diameter variation, centrally placed nuclei, necrosis, fibrosis and cytoplasmic bodies. The muscle biopsy in the brother and mother had similar findings except that the inclusion bodies were not seen in the mother. On electron microscopy, the girl showed typical cytoplasmic bodies, involving predominantly type 1 fibres. The mother also had these structures. The literature is reviewed and the origin, pathogenesis and aetiology of the cytoplasmic body are discussed.

Adolescent↗
PubMed1983

Vestibular studies in Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease is a rare sex-linked recessive neurological disorder. It presents with a slowly progressive neurological deterioration. It is liable to be misdiagnosed as cerebral palsy. A family history of similar disease is a clue to the diagnosis. A patient with this condition has been followed over many years. Nystagmus was noted to be present shortly after birth. Audiovestibular investigations were performed. All tests of peripheral hearing were normal. ABR indicated abnormal brainstem conduction. Several electronystagmographic abnormalities were present. These were of a central type. They included failure of fixation suppression, poor smooth pursuit, and impaired performance of optokinetic nystagmus at high stripe speeds. During caloric-induced nystagmus an excessively prolonged slow phase of nystagmus with wide eye excursions was seen. We have not seen this feature in any other diseases and we suggest it may be specific for this syndrome.

Adult↗
PubMed1982

Long-term follow-up after cerebral hemispherectomy: neurophysiologic, radiologic, and psychological findings.

Eight patients were studied 3 to 16 years (mean, 10 years) after cerebral hemispherectomy. Seven have infantile hemiplegia, and one had Sturge-Weber disease. Preoperative assessment included EEG responses to intracarotid drug injections. Postoperative complications occurred in seven patients. The operation was followed by a marked reduction in seizure frequency and improvement in behavior, with little change in intellect or hemiplegia. Neuropsychological assessment performed in four patients showed that they were not aphasic, but nonverbal spatial abilities were poor. CT showed marked shift of the remaining hemisphere in five of six patients scanned.

Adolescent↗
PubMed1981

Further delineation of X-linked mental retardation.

Chromosomal, clinical, and psychological data are presented on members of six families with X-linked mental retardation. Affected males in three of these families express the fra(X)(q28) marker, while the retarded males in the other three do not. Similar variable physical and psychological characteristics, such a lop ears, large testes, and perseverative speech, are present in affected males in all six families. Preliminary analysis of the psychological data also shows that males with and without marker expression cannot be differentiated with certainty. On this basis we suggest that there is a type of X-linked mental retardation with many phenotypic features of marker-X mental retardation but without expression of the X chromosome fragile site.

Chromosome Fragile Sites↗
PubMed1980

X-linked mental retardation: a study of 7 families.

Seven families with X-linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the families were found to have a fragile site on Xq in a number of their peripheral lymphocytes. The fragile site was not seen in any of the affected males in the seventh family. The affected males in the six families with the fragile X had a syndrome characterized by a variable degree of MR, macro-orchidism, a characteristic repetitive, jocular speech, normal body proportions, and large jaws and ears. The fragile X chromosome could only be detected in a proportion of female carriers and its frequency in females was found to be correlated with their mental status to be inversely correlated with their age.

Adolescent↗
PubMed1980

Neurological, psychological and educational sequelae of low birth weight.

In a prospective study of 501 infants of low birth weight (LBW) who mostly weighed 2,041 g (4 1/2 lb) or less, and of 203 control infants of full birth weight (FBW > 2,500 g), 335 LBW and 139 FBW children were followed beyond the age of 6 years and 6 months. The incidence of neurological defects was negatively correlated with birth weight, and the mean "global" IQ of different birth weight groups retained a direct relationship. While the relationship of birth weight to IQ gradually became less marked, the effect of social class was increasingly evident from the age of 2 years and 6 months. The preterm children whose birth weight was appropriate for gestational age (AGA) attained a slightly higher mean IQ and significantly better grade placement in the third school year than the children who were unduly light for their gestational age. Details of the neurological and ophthalmological defects are given, and the predictive significance of neonatal variables is analyzed.

Attention Deficit Disorder with Hyperactivity↗
PubMed1980

Dandy-Walker syndrome: analysis of 21 cases.

During the years 1950 to 1978, a total of 21 cases of Dandy-Walker syndrome were seen at the Vancouver General Hospital. Apart from hydrocephalus, the associated brain anomalies included agenesis of the corpus callosum in four cases, occipital meningocele in two and aqueductal stenosis in one patient. Systemic malformations were present in four patients and included two cases of cleft palate, one of polycystic kidneys and one of congenital rubella syndrome. The over-all mortality was 48 per cent, but has declined since 1965. Of the 12 cases treated surgically, only four have died. The number of shunt revisions was high (about two per patient). Of the 11 survivors, three have normal intelligence, four show mild mental retardation, and four are moderately to severely retarded. The differential diagnosis, clinical course and surgical therapy are discussed. It is recommended that double shunting of a lateral ventricle and of the enlarged fourth ventricle should be the primary procedure in cases associated with aqueductal stenosis or occlusion, and should be the secondary procedure in patients who exhibit recurrence of increased pressure in the posterior fossa after simple shunting of a lateral ventricle.

Cerebrospinal Fluid Shunts↗
PubMed1980

Spinal cord damage: a rare complication of purulent meningitis.

Three cases of spinal cord damage following acute bacterial meningitis are described. Two children survived with neurological sequelae, while one died. Autopsy showed extensive spinal cord necrosis. The possible mechanisms for this rare complication are discussed and a possible connection with transient cardiorespiratory arrest is suggested.

Child, Preschool↗
PubMed1976

Familial congenital monochromatism, cataracts, and sensorineural deafness.

Two sisters had diagnoses of congenital monochromatism, cataracts, bilateral nonprogressive sensorineural deafness, and hyperinsulinism in both, and labyrinthine dysfunction in one. This recessively inherited condition is added to the growing number of syndromes in which one of the features may be a disturbance of hypothalamic function.

Cataract↗