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Biomedical subjects

D H Mellor

Publications and source records attributed to D H Mellor.

15 recordsLinked to original sources

Hemimegalencephaly: diagnosis and treatment.

Three boys with hemimegalencephaly are reported. Two suffered neonatal convulsions and the third presented with seizures at seven months. In each case the EEG was grossly abnormal, with spike and wave activity. All three have significant developmental delay and demonstrate other manifestations of the condition: macrocephaly in two, contralateral hemiparesis in one and one boy has ipsilateral facial hemihypertrophy and linear naevus. Hemimegalencephaly can be recognised on cranial ultrasonography, and the seizures may respond to benzodiazepine therapy.

Adolescent

Imaging in influenza A encephalitis.

Two cases of influenza A encephalitis seen during an outbreak of influenza types A/England/427/88 (H3N2) and A/Taiwan/1/86 (H1N1) in December 1989 are described. In both children the encephalitis developed within three days of the respiratory symptoms and both became comatose within 48 hours. Virological studies showed that the patients had had a recent influenza A infection. Symmetrical localised hypodense lesions within the thalami and pons were demonstrated in both cases on computed tomography of the brain and striking findings in the pons in one case on magnetic resonance imaging. Influenza A encephalitis is not easy to recognise clinically and serological confirmation can only be made after 10 days. Imaging may provide evidence in the acute stage to support a diagnosis of influenza encephalitis during influenza outbreaks.

Brain

Magnetic resonance imaging in neurological disorders.

To investigate the role of magnetic resonance imaging (MRI) in neurological disorders, 115 children were studied in two groups. Group A (78 patients) was studied by paired computed tomography and MRI cranial scans. Group B (37 patients) was studied by paired computed tomography assisted myelography (CTM) and MRI spinal scans. In group A, the scans were generally equivalent for supratentorial tumours and for investigating fits, hydrocephalus, benign intracranial hypertension, and cerebral atrophies, but MRI scanning was superior for posterior fossa tumours and cysts. In group B, MRI scans were superior for intramedullary spinal tumours, spinal dysraphic problems with tethering or syrinx, and were complementary to CTM in diastematomyelia.

Adolescent

Congenital ocular motor apraxia.

Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly with speech, affected all in early childhood. Three had agenesis of the corpus callosum and 2 cerebellar abnormalities. The autopsy of one infant showed cerebellar cortical dysplasia. The pathogenesis of COMA remains unknown and it is possible that agenesis of the corpus callosum and cerebellar hypoplasia are markers indicative of early CNS maldevelopment and not an integral part of the mechanism of COMA.

Agenesis of Corpus Callosum

Delayed visual maturation.

Fifty-three infants with delayed visual maturation (DVM) are presented. These have been classified according to their ocular and systemic features into three groups: DVM as an isolated anomaly, in association with mental retardation, and ocular abnormalities accompanied by DVM. The clinical features are discussed, particularly regarding the time and speed of visual improvement in the three groups. Infants with DVM who experienced difficulties in the perinatal period have an increased risk of developing permanent neurological sequelae.

Developmental Disabilities

Unusual encephalitic illnesses in a child with acute leukaemia in remission: possible role of measles virus and Toxoplasma gondii.

We report a girl who developed an encephalitic illness with visual loss after two years treatment for acute lymphoblastic leukaemia. The visual loss was found to be due to bilateral macular degeneration. She later developed radiological evidence of intracranial calcification and temporal lobe epilepsy. A second episode of encephalitis occurred when she had been off all antileukaemic treatment for three years and this left her with a right hemiparesis. Investigation suggested involvement with both measles virus and Toxoplasma gondii as a cause for these illnesses.

Child

Prenatal diagnosis and family studies in a case of propionicacidaemia.

In a family with a history of two neonatal deaths, propionicacidaemia was diagnosed retrospectively from stored plasma as the cause of the second death during the mother's next pregnancy. Amniocentesis was performed and a culture of amniotic cells was assayed for propionyl CoA carboxylase activity. The absence of any detectable propionyl CoA carboxylase activity allowed the prenatal diagnosis of propionicacidaemia to be made. Treatment with biotin and a modified aminoacid diet was started in the immediate postnatal period. Investigation of propionyl CoA carboxylase in leucocytes from the parents, siblings and other relations of the patient failed to demonstrate intermediate enzyme activities in even the parents, who were presumably heterozygotes for this condition.

Amino Acid Metabolism, Inborn Errors