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Biomedical subjects

T Louhimo

Publications and source records attributed to T Louhimo.

10 recordsLinked to original sources

CNS in congenital muscular dystrophy without mental retardation.

We have evaluated the CNS findings of 30 patients with congenital muscular dystrophy and normal mental development. The intelligence was estimated by psychological testing or school performance. There were more children of above average intelligence than expected. Neuroradiological examination was done to 15/17 patients still alive. White matter changes were seen in five and cerebral atrophy in four patients. Three patients had epilepsy, two mild, one drug resistant. The EEG did not reveal any common pattern, though there were various abnormalities in several children.

Achievement↗

The clinical course of mannosidosis.

The clinical course of mannosidosis was studied in eight patients. The age at onset of symptoms varied from 6 months to 3 years. The first symptom was usually delayed development of speech or motor or mental functions and was often accompanied by recurrent infections. All the patients were mentally retarded, with slightly coarse facial features, poor ability to speak, sensorineural hearing loss and dysostosis multiplex. Ataxia was seen in all but one case, appearing in childhood at the same time as the hearing loss. Follow-up observations suggested gradual impairment of mental and motor functions and speech with age. Other findings were stunted growth in adults, and vacuolated lymphocytes in the peripheral blood.

Bone Development↗