Biomedical subjects

E M Brett

Publications and source records attributed to E M Brett.

At least 73 records · Page 4Linked to original sources

PubMed1978

Infant botulism in England.

A 24-week-old girl presented with an acute illness characterised by constipation at 22 weeks, followed a week later by the sudden onset of generalised weakness, poor feeding, and a weak cry. Laboratory examination of her stools confirmed the clinical diagnosis of infant botulism.

Acute Disease↗

PubMed1978

Neurological abnormalities in patients treated for hypothyroidism from early life.

Neurological and psycholocial assessment was carried out on 30 patients aged 2.7 to 21 years (mean 9.4) who were being treated for hypothyroidism starting before the age of 2 years. Their IQ scores lay in the normal range (71--122; mean 92.4) but 77% showed at least one sign of impaired brain function. Clumsiness was found in 33%, behaviour disorders in 23%, speech disorders in 20%, learning disorders in 26%, squint in 53%, nystagmus in 10%, and minor motor disorders in 50%. Many showed several of these features and hypothyroidism in early life appears to lead to widespeard impairment of brain function. These neurological findings were equally common in patients in whom treatment started between 4 and 10 weeks of age and patients treated after 10 weeks, suggesting that early detection of hypothyroidism by neonatal screening may be of limited benefit. Children who have been hypothyroid in early infancy require careful assessment to prevent further visual, emotional, scholastic, or vocational difficulties.

Adolescent↗

PubMed1977

Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy.

The ultrastructural findings in nerve biopsies from two cases of late onset metachromatic leukodystrophy were compared with those in cases of late infantile and juvenile onset. Hypertrophic changes and regenerating clusters were more evident in the late onset cases, in which macrophages were less frequent, presumably reflecting the chronicity of the disorder in this form. Inclusions within Schwann cells and endoneurial macrophages were similar in all four cases. Myelin figures, in which the periodicity of major dense lines was 8 nm, were present in Schwann cells associated with myelinated axons. The electron lucent zones between the major dense lines were bisected by lines of lesser electron density. These inclusions were probably related to myelin breakdown. All other inclusions displayed a periodicity of 5.8 nm and consisted of zebra bodies, vacuoles containing irregularly orientated lamellar material and stacks of flattened discs. These inclusions represented the metachromatic sulphatide deposits. Occasional inclusion bodies were observed within axons.

Adult↗

PubMed1977

Juvenile Gaucher's disease with horizontal gaze palsy in three siblings.

Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver extract, and a deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts. The neurological picture was characterised by myoclonic epilepsy, muscle wasting, hypotonia, pyramidal signs, some intellectual deterioration, and a striking disturbance of eye movements. The latter appears to result from specific involvement of the supranuclear pathways subserving lateral gaze. The distinctive features of this clinical syndrome are emphasised.

Age Factors↗

PubMed1976