Search

A man in his late 60s had vertigo and vision tilt following a dental procedure. A cerebellar haemorrhage and cerebral microbleeds (CMBs) were diagnosed on imaging. Subsequent testing revealed CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The role of the dental procedure as a trigger for intracerebral haemorrhage (ICH) is discussed. The incidence of CMBs and ICH in CADASIL is discussed. A summary of the causes and pathology associated with visual tilt is documented., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

We describe a man in his 30s with haemophagocytic lymphohistiocytosis (HLH), secondary to an upper respiratory tract infection, with subsequent febrile infection-related epilepsy syndrome. He had a prolonged hospital admission, during which he was treated with chemotherapy for HLH and antiepileptic medications for refractory seizures. He was discharged fully dependent to a care facility and died from aspiration pneumonia 11 months later. This case report highlights his management and discusses these conditions' pathophysiology and future management., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Atypical Behçet's is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet's, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Guillain-Barré syndrome (GBS) is an immune-mediated polyneuropathy classically thought to be caused by infections through the process of molecular mimicry. We report a case of GBS caused by intracerebral haemorrhage and postulate potential theories for the development of GBS following intracerebral haemorrhage and other non-infectious aetiologies by association. We highlight that GBS is an important differential diagnosis in patients developing generalised paresis following intracerebral haemorrhage., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Primary leptomeningeal melanomas are rare, comprising less than one percent of all brain tumours. They are aggressive and radioresistant tumours, with a poor prognosis. The mainstay of treatment is complete surgical resection and chemotherapy with limited success. Distinguishing a primary leptomeningeal melanoma from the more common metastatic disease can be difficult, and often requires the use of ancillary molecular testing. Primary central nervous system melanomas, including uveal melanomas, frequently exhibit mutations in GNAQ and GNA11, rare in the cutaneous and mucosal counterparts.A case of a primary leptomeningeal melanoma of the cerebellopontine angle is described. Molecular studies identified a GNA11 p.Q209L and a KIT p.M541L missense variant, with losses of chromosomes 1p and 3p demonstrated with cytogenetic studies. Complete surgical resection was not possible and leptomeningeal metastatic disease rapidly ensued despite immunotherapy. Further understanding of the molecular signature may translate to improved diagnosis, prognostication and development of targeted therapies., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Durvalumab is a selective, high-affinity human immunoglobulin monoclonal antibody in a class called check point inhibitors, that blocks PD-L1 on tumour cells. Despite clinical success in increasing progression-free survival rates in patients with stage III non-small-cell lung cancer, durvalumab has been associated with immune-related side effects such as pneumonitis and colitis. We present a case of an 84-year-old woman with acral vasculitis presenting as blue toe syndrome, associated with prolonged use of durvalumab. After 1 year of fortnightly durvalumab therapy postchemoradiation therapy, the patient came in with a left blue big toe, and later developed bilateral livedo racemosa. The diagnosis of durvalumab-associated vasculitis was made and treatment with prednisolone was started with clinical improvement., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

A 51-year-old-man presented with symptoms and baseline investigations suggestive of an infective process. Most strikingly, there was a pronounced neutrophil predominant leucocytosis. Lack of a clinical and biochemical response to empirical antibiotic therapy, prompted imaging for a deep-seated infective process, incidentally uncovering a gastro-oesophageal junction tumour. Resection of the tumour was followed by rapid resolution of the leucocytosis. He remains in clinical remission since tumour resection and adjuvant chemotherapy. Cancer-associated leukemoid reactions in non-disseminated tumours are rare. The role of polymorphonuclear (PMN) leucocytes both in the peripheral blood and the tumour itself is discussed herein. There is increasing recognition of the importance of the non-cancer cellular components of the tumour microenvironment. Myeloid suppressor cells are a subset of PMN leucocytes which play a role in tumour progression.The role of these cells and granulocyte colony-stimulating factor is highlighted in this case., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

A 69-year-old woman presented with headaches and visual disturbance in the context of marked hypertension secondary to non-compliance with antihypertensive medications. She developed seizures and hyperreflexia, and MRI brain showed changes consistent with posterior reversible encephalopathy syndrome (PRES). She was treated with antihypertensives with the resolution of symptoms. Over the following week, she developed progressive distal sensory loss, weakness and areflexia. The cerebrospinal fluid examination demonstrated albuminocytologic dissociation, and electrophysiological findings were in keeping with a diagnosis of Guillain-Barré syndrome (GBS). She was treated with intravenous immunoglobulin with gradual recovery. The co-occurrence of PRES and GBS has only been described in a handful of cases. In the majority of these, the dysautonomia of GBS leads to profound hypertension and subsequently PRES. This is a rare case of PRES preceding and possibly even triggering the onset of GBS. In this report, we review the literature and discuss the potential pathogenic mechanisms for this unusual association., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

A 56-year-old man presented with a relapse of likely chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) after a reduction of steroid dose. MRI demonstrated new perivascular FLuid-Attenuated Inversion Recovery (FLAIR) signal hyperintensity involving the dorsal pontomedullary junction and progressing inferiorly into the dorsal medulla oblongata. His admission to hospital was complicated by a respiratory arrest., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

A 47-year-old woman presented with six episodes of horizontal binocular double vision over a 2-year period. CT imaging was significant for extensive dural calcification in the spine and calcification of the skull base, likely involving Dorello's canal. Biochemical testing revealed a persistently low alkaline phosphatase level. Recurrent nerve palsy may possibly be induced by mechanical compression of the sixth cranial nerve in Dorello's canal from calcification due to hypophosphatasia syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

A 55-year-old man of Indian descent, presented to the emergency department with a 2-year history of passing 'milky' white urine, associated with dysuria, urinary retention, bilateral flank pain and 15 kg weight loss. He had migrated to Australia from India at the age of 16, with no overseas travel since, and denied having any fevers, rigours or chills. He was found to have chyluria and nephrotic-range proteinuria with marked hypoalbuminaemia and hypogammaglobulinaemia. Due to his ethnic origin and by diagnostic exclusion, a presumptive diagnosis of filariasis was made. With bilateral lymphorenal disconnection, as definitive management, the patient's chyluria and proteinuria resolved with restoration of normal plasma protein and immunoglobulin levels., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)