Neuromyelitis optica spectrum disorder (NMOSD) is an uncommon antibody-mediated disease of the central nervous system, often associated with aquaporin-4 antibodies (AQP4-Ab). NMOSD may present as a subacute myelopathy, progressing over days with MRI revealing a contiguous inflammatory lesion of the spinal cord, ≥3 vertebral segments, a longitudinally extensive transverse myelitis. We describe an unusual paraneoplastic form of AQP4-Ab NMOSD that developed in a patient with an advanced diffuse large B-cell lymphoma. The patient had an unusual hyperacute onset, reaching a clinical nadir within hours.

A 45-year old woman presented with a twelve-month history of intense migraines. She described episodes of blurred vision in association with the headaches, during which she invariably found that one or other of her pupils became dilated with a degree of eyelid retraction on the affected side. These unusual symptoms resolved spontaneously with improvement of the headache.After exclusion of a lesional cause with brain and neck imaging, we concluded that her symptoms were secondary to autonomic dysfunction in relation to her headache.Horner's syndrome is due to paralysis of the ipsilateral cervical sympathetic chain and comprises ptosis, miosis, enopthalmos and anhidrosis. A Reverse Horner's syndrome, otherwise known as Pourfour du Petit, in theory, is the opposite, and comprises eyelid retraction, mydriasis and hyperhidrosis. Where documented, it is attributed to irritation, rather than complete deficiency of the ipsilateral sympathetic chain. Previous case reports have shown that Pourfour du Petit can occur due to the same mechanisms as a Horner's syndrome. In only one other case report has it been described as an autonomic feature in relation to headache.

The World Health Organization (WHO) has recently announced its plan to eliminate Human African trypanosomiasis (HAT). The plan's main focus is on the Trypanosoma brucei gambiense subspecies, which causes 97% of cases [1]. However, total elimination from certain areas has proved extremely difficult previously; there has been ongoing parasite detection in several foci in West Africa, despite effective screening programmes. This has focussed interest on the potential role of asymptomatic human carriers in contributing to transmission. In this report, we present a unique case of a patient harbouring the parasite for more than three decades before developing stage 2 sleeping sickness [2].

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.