A Case Report on Multiple Sclerosis Associated With Atrial Fibrillation and Neurogenic Hypertension: Area Postrema Syndrome?

Multiple sclerosis (MS) is an autoimmune demyelinating neurological disorder primarily manifesting with a range of neurological symptoms, with cardiovascular autonomic involvement being a rare occurrence. We report a case where a patient initially presented with Bell's palsy, without other notable symptoms or signs, and subsequently developed atrial fibrillation, hypertension, and hemiparesis. Magnetic resonance imaging (MRI) revealed extensive demyelination in the cerebral hemispheres, brainstem, and notably, the area postrema. The anatomy of the area postrema and its connections, in relation to neurogenic hypertension, are discussed. The demyelination in the area postrema was thought to be the cause of our patient's arrhythmias and acute hypertension. Furthermore, we discuss the cerebral origins of cardiac arrhythmias, with a focus on MS and other neurological conditions. This case underscores the rarity of isolated cranial neuropathies, such as Bell's palsy, as an initial sign of MS, marking the onset of a relapse.

Clinical efficacy of crushed prednisolone and hydrocolloid powder in the primary treatment of peristomal pyoderma gangrenosum and correlation to in vitro drug release data.

We evaluated the primary application of crushed prednisolone combined with hydrocolloid powder for clinically diagnosed peristomal pyoderma gangrenosum (PPG). We present our data on this cohort and follow-up of our previous patients. Of the 23 patients who were commenced on this regime, 18 healed (78%). Twenty-two patients commenced on this regime as the primary treatment for their PPG, and for one, it was a rescue remedy after failed conventional therapy. Four patients with significant medical comorbidities failed to heal and one had their stomal reversal surgery before being fully healed. The proposed treatment regime for PPG is demonstrated to be effective, inexpensive and able to be managed in the patient's usual home environment. In vitro drug release analysis was undertaken, and data are presented to provide further insights into the efficacy of this regime.

Moyamoya-Like Vasculopathy and Orbital Trauma: An Association.

An Asian man in his 20s developed asymptomatic ipsilateral moyamoya-like vascular changes following orbital and head trauma. An ipsilateral traumatic optic neuropathy with extensive optic cupping ensued. The complex embryology of the ocular vascular development is reviewed as having a potential causative role in the intracranial carotid vasculopathy.

Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities.

A man in his 50s was diagnosed with William's syndrome (WS) following the investigation of severe vasculopathy and bile duct abnormalities. The vascular lesions included: right carotid artery hypoplasia, tortuous dilated left carotid artery, severe aortic hypoplasia, and pulmonary branch arterial stenoses. The bile ducts were dilated with damaged and inflamed intrahepatic ducts. The patient had been labeled with fetal alcohol syndrome as a consequence of his mother's alcohol addiction. The etiology is thought to be the combined effects and his genetic condition and prenatal alcohol exposure.

Dental procedure induced cerebellar haemorrhage with visual tilt and unsuspected CADASIL.

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.

Adult hemiconvulsive hemiatrophy syndrome: a novel clinicoradiologic disorder in adults.

The association of focal motor seizures with cerebral hemiatrophy is a recognised rare paediatric syndrome known as 'hemiconvulsion, hemiatrophy and epilepsy' (HHE). To date, HHE has not been reported in adults. We present four adult patients with striking similarities to HHE, following alcohol withdrawal in chronic alcoholics. We document the imaging findings in the acute and subacute phases, discuss the underlying mechanisms and present a hypothesis regarding the pathophysiology.

Inflammatory epilepsy (FIRES) and haemophagocytic lymphohistiocytosis (HLH): an adult case.

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.

Osmotic demyelination syndrome: novel risk factors and proposed pathophysiology.

BACKGROUND: Osmotic demyelination syndrome (ODS) is non-inflammatory demyelination in response to an osmotic challenge. It can be pontine or extrapontine in presentation. AIMS: To retrospectively review cases involving ODS and define the spectrum of causes, risk factors, clinical and radiological presentations, and functional outcomes. RESULTS: The study utilised data from 15 patients with a mean age of 53.6 years. Malnutrition (9; 60%) and chronic alcoholism (10; 66.7%) were the most common associated disorders. Two (13.3%) patients had severe hyponatraemia (<120 mmol/L). The average highest single-day change was 5.1 mmol/L. Radiologically, 14 (93.3%) had pontine and 6 (40%) had extra-pontine lesions. Hypokalaemia (14; 93.3%) and hypophosphataemia (9; 60%) were commonly associated. Common clinical manifestations include altered consciousness/encephalopathy (9; 60%), dysphagia (4; 26.7%) and limb weakness (4; 26.7%). At 3 months, two (14.3%) had died and six (40%) were functionally independent (modified Rankin scale 0-2). CONCLUSION: We found that ODS occurred despite appropriate correction rates of hyponatraemia. Factors such as malnutrition, chronic alcoholism, hypokalaemia and hypophosphataemia are thought to play a role in its pathogenesis. Approximately half of the patients survived and became functionally independent.

The relationship between spider naevi & de novo arteriovenous malformations in chronic liver disease.

We report a patient with decompensated alcoholic liver cirrhosis (Child-Turcotte-Pugh class C) who developed a de novo left frontal cerebral AVM and a subcutaneous left temporal scalp spider naevus. Arteriovenous malformations (AVMs) are vascular abnormalities previously thought to be congenital in nature, although new research has revealed the potential for de novo AVM formation through a two-hit hypothesis. We propose that the oestrogen-rich environment seen in chronic liver disease could act as the second hit to allow for an angiogenic state favouring de novo AVM development. We also postulate that spider naevi are formed through a similar mechanism and may represent early-stage AVMs.

Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.

The clinical and neuroimaging findings of a family with a variant ACTA2 gene (c351C > G), presenting with smooth muscle dysfunction in structures of neural crest derivation, are discussed. The combination of aortic abnormalities, patent ductus arteriosus, congenital mydriasis and distinctive cerebrovascular and brain morphological abnormalities characterise this disorder. Two sisters, heterozygous for the variant, and their mother, a mosaic, are presented. Brain parenchymal changes are detailed for the first time in a non-Arg179His variant. Radiological features of the petrous canal and external carotid are highlighted. We explore the potential underlying biological and embryological mechanisms.

Anti-Müllerian hormone concentration is associated with central adiposity and reproductive hormones in expectant fathers.

OBJECTIVE: The role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers. DESIGN: ORIGINS Project prospective cohort study. SETTING: Community-dwelling men. PARTICIPANTS: Partners of pregnant women attending antenatal appointments. MAIN OUTCOME MEASURES: Serum AMH, FSH, LH, testosterone, and metabolic parameters. RESULTS: In 485 expectant fathers, median age 33 years, median AMH was 40 pmol/L (quartiles 29, 56). AMH was inversely correlated with FSH, age, and body mass index (BMI) (correlation coefficients: -.32, -.24, and -.17 respectively). The age association was nonlinear, with peak AMH between 20 and 30 years, a decline thereafter, and somewhat steady levels after 45 years. The inverse association of AMH with FSH was log-linear and independent of age and BMI (ß: -.07, SE: 0.01, p < .001). AMH was inversely correlated with waist circumference and directly associated with sex hormone-binding globulin. Testosterone was moderately correlated with AMH (correlation coefficient: .09, ß: .011, SE: 0.004, p = .014): this association was mediated by an inverse relationship with BMI (mediated proportion 0.49, p < .001). CONCLUSIONS: In reproductively active men, lower AMH is a biomarker for advancing age, and for poorer metabolic and reproductive health. The inverse association between AMH and FSH is independent of age and BMI, whereas the association of AMH and testosterone is mediated via BMI. The utility of AMH to predict reproductive and cardiometabolic outcomes in men warrants further investigation.

Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc.

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.

Cough as a clinical manifestation of large vessel vasculitis.

Cough is not a widely recognised symptom of large vessel vasculitides. If not promptly diagnosed and treated, large vessel vasculitis can have serious clinical consequences. We present the case of a 76-year-old man who presented with a subacute history of persistent dry cough, was found to have extensive aortitis on imaging, and experienced rapid resolution of symptoms with immunosuppression.

Intracerebral haemorrhage and Guillain-Barré syndrome: an exploration of potential pathophysiology.

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.

Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin.

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.

Vascular Ehlers-Danlos Syndrome: Treatment of a Complex Abdominal Wound with Vitamin C and Mesenchymal Stromal Cells.

ABSTRACT: Vascular Ehlers-Danlos syndrome (EDSv) can present with life-threatening surgical complications. The article describes the case of a patient with EDSv who developed total abdominal wound dehiscence and multiple enterocutaneous fistulas. Treatment with IV allogeneic mesenchymal stromal cells (MSCs) and high-dose vitamin C was trialed with success. Near-complete wound healing of the abdominal dehiscence with a 94% reduction in the size of the wound bed occurred. Maturation of the enterocutaneous fistulas also ensued.There is no current consensus on the management of large cutaneous wounds in EDSv. This article discusses the pathophysiology of wound healing with regard to nutrition requirements and growth factors with special reference to collagen deficits in EDSv. A potential therapy with IV vitamin C supplementation and MSCs is proposed following the patient's positive outcome. Medium-dose MSCs and high-dose IV vitamin C may offer significant benefits to complex and problematic wounds.