Biomedical subjects

P G Procopis

Publications and source records attributed to P G Procopis.

At least 37 records · Page 2Linked to original sources

PubMed1981

Metachromatic leucodystrophy in children.

Nine children with a proven enzymological diagnosis of metachromatic leucodystrophy are described. All except one have shown a progressive course with the clinical features of peripheral neuropathy, corticospinal tract involvement and dementia. Seizures and cerebellar signs also may occur. Abnormalities in nerve conduction, CSF, sural nerve biopsy and CT scan are described. One patient presented with language regression but after 5 years still had not developed other features of MLD.

Biopsy↗

PubMed1981

Bilateral optic nerve hypoplasia.

In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25 months). Five presented with suspected blindness and 7 with abnormal eye movements (nystagmus or less commonly squint). The other 3 presented because of fits or developmental delay. Eight showed evidence of neural damage--microcephaly, seizures and/or abnormalities of tone. Four appeared to be of normal or near normal intelligence, 6 were mildly retarded and 5 severely so. Two patients had already died, one suddenly. Six of the 7 cases investigated in detail had evidence of hypothalamic pituitary dysfunction. Another one had a minimal hypothalamic abnormality. Four were severely growth retarded and 2 were receiving growth hormone replacement. Two males had micropenis and a girl had precocious puberty with partial diabetes insipidus. Neuroradiological investigations showed an absent septum pellucidum in only 5 cases. Five patients had other major CNS malformations. Five patients had normal CT scans; 3 of these 5 appeared of normal intelligence and all 5 had normal neurological examinations. Bilateral optic nerve hypoplasia is frequently associated with serious brain and endocrine abnormalities.

Brain↗

PubMed1979

Benign acute childhood myositis.

Four school children, aged 6 to 9 years, had acute postinfectious myositis. The prodromal illness usually involved the upper respiratory tract, but gastrointestinal symptoms were also seen. Fever and nonspecific malaise were characteristic. After cessation of the illness, myalgia involved the calves and thighs. Arm and neck muscles were less frequently affected. Weakness was less marked than muscle pain. Serum creatine phosphokinase (CPK) was markedly increased in all cases. Myalgia and CPK levels subsided in less than a week, although one child was not back to normal for 4 weeks. Two children had electromyography, and patchy myopathic changes were found. Viral studies were not helpful in any of the cases.

Acute Disease↗

PubMed1979

Computerised tomography in the leucodystrophies.

11 patients with a diagnosis of leucodystrophy are reported. In 9 the CAT scan was abnormal and showed areas of markedly decreased density in the white matter. 3 of these patients had adrenoleucodystrophy. In 2, contrast enhancement at the anterior borders of the low density areas was present. The 2 negative scans were from children with metachromatic leucodystrophy; one had an atypical form of the disease and the other had the biochemical defect, but was still presymptomatic and had no neurological deficit.

Adolescent↗

PubMed1979

Adrenoleucodystrophy: a study of four patients.

4 unrelated boys suffering from adrenoleucodystrophy (ALD) are reported. All presented with a cerebral degenerative disorder manifested by behaviour change, dementia, progressive visual loss and spasticity. 1 child showed an excess of skin pigmenation but no other clinical features of adrenal insufficiency were present. An ACTH stimulation test indicated adrenal insufficiency in 1 patient. In the 3 patients with a normal response to ACTH stimulation, 2 had elevated resting plasma ACTH levels, and the other showed typical inclusins in the cells of the adrenal cortex when examined by electron microscopy. Nuclear brain scans were abnormal in all 4 patients. 3 patients had a CAT scan and in all a diffuse decrease in density was shown throughout the cenebral white matter. 2 patients had a zone of contrast enhancement adjacent to the low density areas. In boys under the age of 10 years ALD is the commonest cerebral degenerative disease after subacute sclerosing panencephalitis.

Adrenal Cortex↗

PubMed1977