Duncan Lamont

OBJECTIVE: To elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit. METHOD: Brain and spinal neuropathology in 2 patients with CANVAS, together with brain and otopathology in another patient with CANVAS, were examined postmortem. RESULTS: Spinal cord pathology demonstrated a marked dorsal root ganglionopathy with secondary tract degeneration. Cerebellar pathology showed loss of Purkinje cells, predominantly in the vermis. CONCLUSION: The likely underlying sensory pathology in CANVAS is loss of neurons from the dorsal root and V, VII, and VIII cranial nerve ganglia-in other words, it is a "neuronopathy" rather than a "neuropathy." Clinically, CANVAS is a differential diagnosis for both spinocerebellar ataxia type 3 (or Machado-Joseph disease) and Friedreich ataxia. In addition, there are 6 sets of sibling pairs, implying that CANVAS is likely to be a late-onset recessive or autosomal dominant with reduced penetrance disorder, and identification of the culprit gene is currently a target of investigation.

A 69 year old man was admitted for investigation of right sided pleuritic chest pain and dyspnoea, both of which began suddenly four days before admission. Acute pulmonary embolism was diagnosed. Six months after discharge while on warfarin he died. Necropsy found a 50 mm diameter myxoid tumour arising on the right atrial side of the interatrial septum. This lesion may have been discovered earlier by echocardiography although there were no clear indications for this investigation. Presentation was that of recurrent pulmonary embolism with no obvious source or cause of thrombosis. Patients who are thought to have idiopathic pulmonary embolism should undergo early echocardiography to exclude the rare but treatable diseases of the right heart that may be responsible.

BACKGROUND: Erosive vulvovaginal lichen planus (EVLP) is a chronic, painful dermatosis affecting mucocutaneous sites. Clinicopathological diagnostic criteria have been described on the basis of expert consensus. The aim of this study was to review the presentation of EVLP, particularly assessing the frequency of suggested diagnostic criteria. METHODS: Clinical signs, symptoms and histological features of women with a clinical diagnosis of EVLP were identified from clinical records and photographs. RESULTS: In all, 72 women with an average age of 67 years were included. Pain or burning were documented in 66/72 cases (92%) and itch in 36 (50%). Clinical images showed well-demarcated red shiny areas or erosions at the vaginal introitus (96%), scarring with loss of normal architecture (88%) and hyperkeratotic border and Wickham striae (46%). A total of 27 women had mucosal disease at another site (38%) and 24 had vaginal involvement (33%). Vulval histology was available for 45/72 cases (63%). The most prevalent histological finding was a band of inflammation with predominant lymphocytes (35/72, 49%). Overall, 97% of cases had at least three of nine suggested diagnostic criteria. CONCLUSIONS: The most frequent findings in women with EVLP were symptoms of pain or burning, well-demarcated red shiny areas or erosions at the introitus and scarring with loss of architecture. Our findings support the recently described diagnostic criteria for EVLP.

A 57-year-old man is presented with blue pseudochromhidrosis affecting the face and neck following combination treatment with lansoprazole, a proton pump inhibitor, and ranitidine, a type two histamine receptor antagonist. The diagnosis was made on the basis of clinico-histological features and growth of Malassezia furfur, and Bacillus species, not Bacillus cereus, in the absence of lipofuscin. The pseudochromhidrosis resolved on stopping both medications and did not recur on restarting only the proton pump inhibitor.