Microphthalmia with linear skin defects (MLS) syndrome: familial presentation

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Linear IgA bullous dermatosis associated with amyotrophic lateral sclerosis

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Milia: a useful clinical marker of CYLD mutation carrier status

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Scorpion bite-induced ischaemic stroke

We report a 54-year-old woman with scorpion bite. After 3 hours of admission, the patient developed sudden onset tachycardia with hypotension. Cardiac evaluation showed raised creatine kinase MB isoenzyme was elevated; ECG and two-dimensional echocardiography findings were suggestive of myocarditis. Subsequently, she developed transient ventricular tachycardia before developing abrupt onset, right hemiplegia, global aphasia and progressive worsening of sensorium 12 hours after the bite. MRI of brain revealed massive left middle cerebral artery (MCA) territory infarct. The magnetic resonance angiography showed non-visualisation of left internal carotid artery (ICA) and MCA. Coagulation parameters were normal. Sudden complete occlusion of left ICA was probably secondary to cardioembolic phenomenon leading to massive infarct. Despite aggressive medical and supportive measures, she clinically worsened rapidly to Glasgow Coma Scale of 3/15 over next 6 hours and succumbed to her illness the next day.

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Oesophageal ischaemia: an uncommon cause of chest pain

A 79-year-old woman with a history of ischaemic heart disease and atrial fibrillation presented to hospital with severe chest pain. Blood tests showed an elevated D-dimer and a rise in troponin I. ECG showed right bundle branch block pattern and T wave inversion in leads V1 to V3, although these changes were present in old ECGs. A chest X-ray was done which was normal. Due to the nature and severity of her pain a CT aortic angiogram was done. This did not show any evidence of aortic dissection or a pulmonary embolism. The patient then had several episodes of haematemesis. An urgent oesophagogastroduodenoscopy was done which showed a circumferential, well demarcated area of blackened oesophageal mucosa. The patient was diagnosed with ischaemic damage to her oesophagus.

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Posterior fossa progressive multifocal leukoencephalopathy: first presentation of an unknown autoimmune disease

We present a case of a 57-year-old man who presented with progressive cerebellar dysarthria and cerebellar ataxia. Additional investigations confirmed the diagnosis of progressive multifocal leukoencephalopathy (PML) in the posterior fossa. This is a demyelinating disease of the central nervous system, caused by an opportunistic infection with John Cunningham virus. PML has previously been considered a lethal condition, but because of careful monitoring of patients with HIV and of patients using immunosuppressive drugs it is discovered in earlier stages and prognosis can be improved. Our patient had no known immune-compromising state, but further work-up revealed that the PML was most likely the first presentation of a previous untreated autoimmune disorder: sarcoidosis.

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Subclinical meningoventriculitis as a cause of obstructive hydrocephalus

Communicating hydrocephalus may complicate infantile bacterial meningitis, typically presenting with systemic features of infection. We report a rare case of 'subclinical meningoventriculitis' causing obstructive hydrocephalus and its challenging management. A healthy 10-week-old immunocompetent male patient presented with failure to thrive and vomiting, secondary to presumed gastro-oesophageal reflux. The child was neurologically alert, afebrile with normal inflammatory markers. Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis. An endoscopic third ventriculostomy was performed however abandoned intraoperatively due to the unexpected finding of intraventricular purulent cerebrospinal fluid. A 6-week course of intravenous ceftriaxone was commenced for Escherichia coli meningoventriculitis. However, the child was readmitted 18 days postoperatively with acute hydrocephalus requiring a ventricular washout and staged ventriculoperitoneal shunt insertion at 4 weeks. Serial head circumference measurements are paramount in the assessment of a paediatric patient. In an immunocompetent child, a subclinical fibropurulent meningoventriculitis can result in several management challenges.

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