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Biomedical subjects

M E Farrugia

Publications and source records attributed to M E Farrugia.

5 recordsLinked to original sources

Paraneoplastic limbic encephalitis.

Paraneoplastic limbic encephalitis (PLE) is a rare neurological consequence of a variety of cancers, most commonly originating from lung, breast and testis. The aetiology is believed to be immune-mediated, caused by tumour-induced autoimmunity launching an attack against one's own central nervous system. The patient may present with amnesia, depression, anxiety, seizures and/or personality changes. The onset of these symptoms may precede the diagnosis of malignancy by a period of up to 2 years. The malignancy may be occult and unless the syndrome is recognised, it may fail to be detected. The diagnosis of PLE is suggested by the clinical picture, MRI evidence of mesial temporal lobe abnormality and CSF abnormalities such as the presence of oligoclonal bands. It may be further supported by the presence of paraneoplastic antibodies in the serum. Immunosuppression has been tried in some cases but memory impairment is often irreversible. There are several case reports in the literature of paraneoplastic limbic encephalitis but few emphasise the resulting impact that this may have on the patient's quality of life and their carers. The accompanying amnesia is often far more distressing to the carers, who are aware of the limitations of treatment of the underlying malignancy. Hospices offer the appropriate palliative environment for such patients as well as physical and psychological respite to the carers.

Fatal Outcome↗

Is there scope for checking serum biochemistry in the epilepsy clinic?

We often request blood investigations, almost as a knee-jerk reaction, without asking ourselves why and what we expect to exclude or confirm by doing the test. We often fail to put the patients presentation into clinical perspective. Here, we present a scenario where routine blood tests were unexpectedly abnormal. A patient presents to the First Fit clinic, having sustained two generalised tonic-clonic epileptic seizures. She was commenced on anti-epileptic medication by her GP prior to being seen by the neurologists. Routine blood investigations taken in the clinic revealed significant hypocalcaemia. She was investigated for the cause of this biochemical derangement and started on 1-alphahydroxycholecaliferol. Her antiepileptic drug was discontinued once her serum calcium was corrected since she was considered to have symptomatic seizures. The discussion deals with the causes of hypocalcaemia, which is less commonly encountered than hypercalcaemia, and the relevance of checking a patients biochemistry in the First Fit clinic. In view of the latter point, there is no clear answer and its use fails to be justified by any strong evidence.

Blood Chemical Analysis↗

A limited epidemiological study of seropositive myasthenia gravis in Tayside.

Myasthenia gravis is an acquired disorder of the neuromuscular junction characterised by fatiguable weakness of the limbs, bulbar and facial muscles and may be complicated by respiratory muscle weakness and failure. One often confirms the diagnosis by a simple serological test looking for the presence of the nicotinic acetylcholine receptor antibody. However, seronegative myasthenia constitutes about 20% of cases and in the case of ocular myasthenia, only 50% will have the antibody. Therefore, the diagnosis can be less than straightforward especially if the patient presents with vague symptoms such as fatigue or presents to specialities other than neurology or ophthalmology. The fact that the diagnosis may prove to be challenging, compounded by the fact that the condition is relatively rare and that the antibody to the acetylcholine receptor is not always present, epidemiological data is often less than precise and indeed difficult to acquire. We felt it was necessary to try to establish the epidemiological data on seropositive myasthenia gravis in Tayside, (this has never been carried out) bearing in mind the above pitfalls, and see how the incidence compares with similar and previous studies.

Adult↗

Negative-antibody paraneoplastic syndrome complicating small cell carcinoma.

The neurological paraneoplastic syndromes represent nonmetastatic complications of cancer and may affect several levels of the nervous system. They are thought to be immunologically-mediated. The syndrome predates the diagnosis of cancer by months to years in two thirds of cases. We report the case of a female patient presenting with a cerebellar syndrome and a sensory neuronopathy on a background of severe weight loss. We searched for occult malignancy and later diagnosed her to be suffering from a paraneoplastic syndrome secondary to small cell carcinoma of the lung. Paraneoplastic antibodies were negative. She was subsequently treated with chemotherapy.

Antibodies, Neoplasm↗