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Biomedical subjects

J M Walshe

Publications and source records attributed to J M Walshe.

At least 19 recordsLinked to original sources
PubMed1992

Wilson's disease: the problem of delayed diagnosis.

To discover the earliest symptoms and signs of neurological Wilson's disease we analysed the case histories of 136 patients who were seen between 1955-87: patients with hepatic or presymptomatic Wilson's disease were excluded from this series. Thirty one patients (23%) gave a history of an episode of liver damage. The onset of symptoms ranged from nine to 40 years with a median of 16.2 years. The correct diagnosis was made at presentation in only 43 patients. The mean delay before diagnosis was 12.8 months for the others. The earliest symptoms were dysarthria or difficulty with the hands, or often both. There was often an associated change in personality or deteriorating performance at school. The four common clinical pictures were Parkinsonian (61 cases), "pseudosclerotic" (33 cases), dystonic (21 cases) and choreic (15 cases): six cases were unclassified. Parkinsonian symptoms were equally common in children (under 17 years) and adults, a "pseudosclerotic" picture was much more common in adults but dystonic and choreic symptoms were seen more often in children. Experience suggests that no two patients are ever the same, even in a sibship.

Adolescent↗
PubMed1989

Wilson's disease presenting with features of hepatic dysfunction: a clinical analysis of eighty-seven patients.

An analysis has been made of presenting symptoms and course in 87 patients with predominantly hepatic Wilson's disease. In 30 patients, in whom the diagnosis was made relatively quickly, response to treatment was excellent and all recovered although two had severe haemolytic crises. Mean age of onset was 11 years (range five to 22). Nine patients suffered toxic reactions to penicillamine and were then treated with trientine. In 22 patients the diagnosis was made after neurological symptoms had supervened; in 20 the signs of hepatic damage had disappeared despite the lack of treatment but in two hepatic signs persisted until the central nervous system was affected. In the 20 patients in whom signs of liver disease resolved spontaneously there was a time interval of from one to eight years before neurological signs developed. All 22 patients in a third group died of hepatic disease without central nervous system involvement. In 19 cases duration of the illness was brief and the diagnosis was made very late or at post-mortem examination. One patient survived with chronic progressive liver damage for 20 years; diagnosis was also made at post-mortem examination. Mean age at death was 15 years. The diagnosis was made retrospectively in 13 patients who died. In two of these the diagnosis was confirmed by determination of the liver copper concentration on tissue saved at postmortem examination; in the other 11 the diagnosis is probable since other siblings developed a similar illness, proven to be Wilson's disease. Age range for these patients was eight to 13 years. Duration of the illness from onset to death was nine days to four years (mean 10 weeks). There was no example of primary carcinoma of the liver in this series.

Adolescent↗
PubMed1988

Diagnosis and treatment of presymptomatic Wilson's disease.

In ninety families with at least one proven case of Wilson's disease, seen over 32 years, all close relatives were examined and "presymptomatic" disease was diagnosed in 30. 11 had one or more abnormal physical signs when examined and 7 of these had Kayser Fleischer rings. In a further 10 patients the abnormalities of copper metabolism were so pronounced as to leave no doubt as to the diagnosis. 6 patients were not seen until they had been on treatment for 2 years or more; in some, much of the evidence on which the diagnosis was based is not available. In 3 patients there were only minor histological abnormalities in the liver and no increase in urinary copper but other indices of copper metabolism pointed to a diagnosis of Wilson's disease. 2 patients had transient neurological signs after starting treatment; otherwise, all but one (who died in an accident) have remained well for up to 26 years.

Adolescent↗
PubMed1988

Wilson's disease and epilepsy.

The relationship between Wilson's disease and epilepsy is explored, both in the literature and in a series of 200 cases of Wilson's disease. Details of 44 literature and 14 personal cases of both disorders are presented. The prevalence on December 1, 1986 of epilepsy in the Cambridge series was 6.2%, ten times higher than that of epilepsy in the general population. Seizures in Wilson's disease occur at any stage of the disease, but often begin shortly after the start of treatment. Prognosis of seizures was comparable with the best quoted figures for idiopathic epilepsy: at 7 years 60% of cases had been seizure-free for at least 5 years, and 75% for at least 2 years. Possible mechanisms of seizures are discussed. Penicillamine-induced pyridoxine deficiency is probably not involved in more than a minority of cases. It is more likely that a direct effect of copper deposition is responsible for most of the seizures.

Adolescent↗
PubMed1986

Dangers of non-compliance in Wilson's disease.

A patient who presented with severe hepatic Wilson's disease at age 14 responded well to treatment with penicillamine and remained in good health for a further 20 years, although she became somewhat careless about her medication towards the end of this period. Finally she abandoned treatment altogether and died of hepatic failure 2 1/2 years later. Abdominal computed tomography showed that the main structural damage to the liver occurred in this relatively short period of non-compliance after over 20 years of normal health on maintenance penicillamine therapy.

Acute Disease↗
PubMed1986

The management of pregnancy in Wilson's disease treated with trientine.

Seven patients with Wilson's disease, treated with trientine, have been followed during 11 pregnancies. Eight of these resulted in the delivery of normal infants, whilst one was very premature (31 weeks) and was later shown to have a chromosomal defect, isochromosome X. There was one therapeutic termination and one miscarriage associated with a contraceptive coil. The eight children are progressing satisfactorily and have been studied for periods varying from three months to nine years; all mothers are also doing well. The child with the isochromosome X is developing slowly; she shows no morphological abnormalities at this stage. The normal-for-age caeruloplasmin values found in the cord blood indicates that there was no significant copper depletion in the foetuses, as a result of treatment.

Adult↗