X-linked cerebral adrenoleukodystrophy.

A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12 deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders. Examination revealed a mild left facial droop and weakness of the left shoulder, hip and ankle. Reflexes were symmetrical and tone was normal. Differential diagnosis included glioma, subacute infarction, lymphoma and demyelination. MRI brain showed an extensive right sided subcortical white matter lesion, with extension into the brainstem. The patient's weakness progressed over 3 months. Brain biopsy showed evidence of demyelination and gliosis. A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystrophy (X-ALD) were proposed. Serum very long-chain fatty acids were significantly elevated. Genetic testing showed a mutation in the ABCD1 gene, confirming a diagnosis of X-ALD.

A snapshot of chronic obstructive pulmonary disease management in general practice in Ireland.

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a leading cause of death and disability. Its diagnosis, classification and management are complex. There is a paucity of data on the standard of COPD management in Irish general practice. AIMS: We studied whether COPD diagnosis and management was in accordance with the Global Initiative for Chronic Obstructive Lung Disease (GOLD) guidelines. We investigated if patients who were smokers had received smoking cessation advice. We examined whether influenza and pneumococcal vaccination had been given. METHODS: Ten general practices affiliated with the Irish Mid-West Specialist Training Programme in General Practice (GP) were searched, to determine which patients had a diagnosis of COPD. A data-collection audit tool was developed using GOLD 2019 guidelines. Results were tabulated in SPSS. Descriptive statistics were used. RESULTS: Of 482 patients studied, 91.7% were eligible for free GP care. In 49.4%, the diagnosis of COPD had been made appropriately. In 56.2%, there was no evidence that the stage of COPD had been formally assessed. Of the patients studied, 33.2% were deemed to be receiving appropriate therapy. Smoking status was documented in 99.6% of cases studied and 59.9% were ex-smokers, while 25.9% were current smokers. Appropriate smoking cessation advice had been offered to 71% of eligible patients. Influenza vaccine had been given to 66.2% in the previous 12 months. A total of 53.9% had ever received pneumococcal vaccination. CONCLUSIONS: This study provides a comprehensive snapshot of care in Irish general practice for patients with COPD prior to introduction of the Chronic Disease Management programme (CDM).

The use of computed tomography pulmonary angiography in the diagnosis of heart failure in the acute setting.

BACKGROUND: Heart failure is a clinical diagnosis characterised by non-specific symptoms such as dyspnoea, fatigue and oedema. The aim of this pilot study was to investigate what role computed tomography pulmonary angiography could play in supporting a diagnosis of heart failure when a pulmonary embolism has been excluded. METHODS: This was a prospective study using the National Integrated Medical Imaging System to assess the potential of computed tomography pulomary angiography (CTPA) as a diagnostic test for heart failure. Consecutive patients were collected from three hospitals of the University of Limerick Hospital Group. We reviewed 230 consecutive CTPA results for cardiac and lung features. Of these, we confirmed which had heart failure by comparison with brain natriuretic peptide (BNP) and echocardiogram criteria. Exclusion criteria included any patients with a diagnosis of pulmonary embolism. RESULTS: Of these 230 patients, only 24 (10.4%) had both objective and clinical signs of heart failure. The most specific signs were shown to be left ventricular enlargement, left atrial enlargement and right ventricular enlargement, which approximated a specificity of 100% (CI 66.3-100.00%). CTPA was shown to match gold standard echocardiography closely in detecting abnormalities as per chi square; Right ventricular enlargement (value = 5.426 P = 0.02), left atrial enlargement (value = 4.9 P = 0.027) and left ventricular enlargement (value = 5.692 P = 0.017). CONCLUSION: Findings on CTPA which included left ventricular enlargement, left atrial enlargement and right ventricular enlargement were shown to be specific for a diagnosis of heart failure. CTPA should be used by physicians awaiting echocardiography to help guide treatment in cases of suspected heart failure.