Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.

BACKGROUND AND PURPOSE: Late-onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67-year-old gentleman who presented with a 3-month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end-stage chronic kidney disease. METHODS: Extensive work-up including serological, cerebrospinal fluid, magnetic resonance imaging and electroencephalography was performed. Whole exome sequencing and muscle biopsy confirmed the diagnosis. RESULTS: Magnetic resonance imaging brain demonstrated a single non-enhancing T2 fluid attenuated inversion recovery hyperintense cortical/subcortical signal change in the right temporal lobe and cerebellar atrophy. Given the subacute presentation of uncertain aetiology, he was empirically treated for autoimmune/paraneoplastic encephalitis. Despite radiological resolution of the cortical abnormality 2 weeks later, there was no clinical improvement. Further collateral history unveiled a mildly ataxic gait and longstanding hearing loss suggestive of a genetic cause. Whole exome sequencing revealed a likely pathogenic, heteroplasmic mitochondrial DNA variant in the MT-TV gene, m.1659T>C, present at higher levels of heteroplasmy in muscle (91%) compared to other mitotic tissues. A high fat/protein diet and multivitamins including co-enzyme Q10 were commenced. Treatment of the nutritional deficiency and avoidance of intermittent fasting due to unreliable oral intake secondary to encephalopathy probably contributed to the clinical improvement seen over the ensuing few months, with resolution of his encephalopathy and return to his baseline gait and weight. CONCLUSION: An adult case is reported with an acute neurological presentation mimicking encephalitis, caused by a heteroplasmic m.1659T>C MT-TV variant, previously reported once in a child who displayed a different clinical phenotype.

The Evaluation of Palpable Thigh Nodularity in Vaccination-age Children - Differentiating Vaccination Granulomas from Other Causes.

Palpable thigh nodularity is a relatively frequent indication for imaging of vaccination-age children, with patients often referred by their community physician or general practitioner. Ultrasound (US) is the imaging modality of choice to delineate the abnormality, and we present a number of characteristic findings that permit the radiologist and pediatrician to accurately identify the cause. A retrospective review was performed at the largest children's hospital in a European country between 2015 and 2017 over a 30-month period. A search was performed of the hospital's Picture Archiving and Communication System (PACS) for all children referred for a soft-tissue, upper limb, or lower limb US between January 2015 and July 2017. The findings were collated and stored in a spreadsheet. Nine patients were identified who developed subcutaneous nodules in the thigh at some point during their childhood vaccination schedule. Three of these patients had clinical histories strongly suggestive of a diagnosis of abscess or foreign body. The remaining six patients were selected for more in-depth analysis. Four of these patients had US features consistent with vaccination granuloma. Two patients were ultimately diagnosed with venolymphatic malformations. Palpable thigh nodularity in a child of vaccination age is encountered with a reasonable frequency. When encountered, granulomas tend to be located within the subcutaneous tissues, and we postulate that this is due to erroneous administration of a vaccine into the subcutis rather than into the muscle.

CT-guided Lung Biopsy: Effect of Biopsy-side Down Position on Pneumothorax and Chest Tube Placement.

Background Supine or prone positioning of the patient on the gantry table is the current standard of care for CT-guided lung biopsy; positioning biopsy side down was hypothesized to be associated with lower pneumothorax rate. Purpose To assess the effect of positioning patients biopsy side down during CT-guided lung biopsy on the incidence of pneumothorax, chest drain placement, and hemoptysis. Materials and Methods This retrospective study was performed between January 2013 and December 2016 in a tertiary referral oncology center. Patients undergoing CT-guided lung biopsy were either positioned in (a) the standard prone or supine position or (b) the lateral decubitus position with the biopsy side down. The relationship between patient position and pneumothorax, drain placement, and hemoptysis was assessed by using multivariable logistic regression models. Results A total of 373 consecutive patients (mean age ± standard deviation, 68 years ± 10), including 196 women and 177 men, were included in the study. Among these patients, 184 were positioned either prone or supine depending on the most direct path to the lesion and 189 were positioned biopsy side down. Pneumothorax occurred in 50 of 184 (27.2%) patients who were positioned either prone or supine and in 20 of 189 (10.6%) patients who were positioned biopsy side down (P < .001). Drain placement was required in 10 of 184 (5.4%) patients who were positioned either prone or supine and in eight of 189 (4.2%) patients who were positioned biopsy side down (P = .54). Hemoptysis occurred in 19 of 184 (10.3%) patients who were positioned prone or supine and in 10 of 189 (5.3%) patients who were positioned biopsy side down (P = .07). Prone or supine patient position (P = .001, odds ratio [OR] = 2.7 [95% confidence interval {CI}: 1.4, 4.9]), emphysema along the needle path (P = .02, OR = 2.1 [95% CI: 1.1, 4.0]), and lesion size (P = .02, OR = 1.0 [95% CI: 0.9, 1.0]) were independent risk factors for developing pneumothorax. Conclusion Positioning a patient biopsy side down for percutaneous CT-guided lung biopsy reduced the incidence of pneumothorax compared with the supine or prone position. © RSNA, 2019.

Post-influenzal triazole-resistant aspergillosis following allogeneic stem cell transplantation.

Influenza virus infection is now recognised as a risk factor for invasive pulmonary aspergillosis (IPA). Delays in diagnosis contribute to delayed commencement of antifungal therapy. In addition, the emergence of resistance to first-line triazole antifungal agents puts emphasis on early detection to prevent adverse outcomes. We present 2 allogeneic stem cell transplant patients who developed IPA due to triazole-resistant Aspergillus fumigatus following influenza infection. We underline the challenges faced in the management of these cases, the importance of early diagnosis and need for surveillance given the emergence of triazole resistance.

Transseptal transcatheter coil embolization of a symptomatic pulmonary arteriovenous aneurysm in a patient with hereditary hemorrhagic telangiectasia.

An atrial transseptal approach was used for embolization of a pulmonary arteriovenous aneurysm in a 56-year-old man with hereditary hemorrhagic telangiectasia. Two previous attempts at embolization of the aneurysm failed because of an inability to cannulate the feeding vessel. A transseptal puncture was performed to gain access to the left superior pulmonary vein allowing retrograde cannulation of the venous sac and successful coiling of the aneurysm without complications. Transseptal transcatheter coiling is a feasible method of treating pulmonary arteriovenous malformations if access to the feeding artery cannot be gained by a standard approach.

Post-endoscopic biliary sphincterotomy bleeding: an interventional radiology approach.

BACKGROUND: Endoscopic sphincterotomy is an integral component of endoscopic retrograde cholangiopancreatography. Post-sphincterotomy hemorrhage is a recognized complication. First line treatment involves a variety of endoscopic techniques performed at the time of sphincterotomy. If these are not successful, transcatheter arterial embolization or open surgical vessel ligation are therapeutic considerations. PURPOSE: To evaluate the technical and clinical success of transcatheter arterial embolization via micro coils in the management of bleeding post-endoscopic sphincterotomy (ES). MATERIAL AND METHODS: An 8-year retrospective review of all patients referred for transcatheter arterial embolization (TAE) for management of post-ES bleeding not controlled by endoscopy was performed. We analyzed the findings at endoscopy, angiography, interventional procedure, and the technical and clinical success. RESULTS: Twelve embolization procedures were performed in 11 patients. Technical success was achieved in 11 of 12 procedures. Branches embolized included the gastroduodenal artery (GDA) in 11 cases, the superior pancreaticoduodenal artery (SPDA) in one case, and the inferior pancreaticoduodenal artery (IPDA) in four cases. Clinical success was achieved in 10 of 11 patients. One patient was referred for surgical intervention due to rebleeding from the IPDA. CONCLUSION: Our experience demonstrates that TAE can effectively control bleeding post-ES avoiding the need for invasive surgery in most patients.

Towel induced reflex seizures.

Reflex epilepsies are a unique and heterogeneous group of epilepsies characterized by recurrent seizure activity evoked by a specific external sensory stimulus or internal cognitive process. Reflex seizures can be part of other epilepsy syndromes including focal and generalized syndromes and have a growing spectrum of presentations. We report a further subtype of reflex seizures associated with towel exposure. We give an account of a case of drug-refractory focal epilepsy admitted to the Epilepsy Monitoring Unit for presurgical assessment with 50% of seizures triggered in response to the touch, feel, smell and thoughts around towels. We reviewed the literature regarding the broad phenotype of reflex epilepsies and seizures.

Stridor: a rare presentation of motor neuron disease.

A 74-year-old farmer presented to the emergency department with a subacute history of progressive dyspnoea, wheeze and dysphonia. He was treated for an exacerbation of asthma with poor response to pharmacological therapy. Investigation of dysphonia via laryngoscopy identified a bilateral vocal cord palsy. Subsequently, the patient developed an episode of life-threatening stridor and hypercapnic respiratory failure requiring an emergency tracheostomy. Neurology input identified evidence of widespread muscle fasciculations on clinical examination. MRI of the brain and cervical spine were unremarkable. Electromyogram testing identified changes of acute denervation in several limbs consistent with a diagnosis of motor neuron disease (MND). Bilateral vocal cord palsy has been rarely reported in the literature as the heralding symptom resulting in the diagnosis of MND. In patients with a subacute onset of dysphonia, dyspnoea and stridor, MND should be a differential diagnosis.

Severe amnestic syndrome due to theophylline toxicity.

We report a case of severe amnestic syndrome following theophylline overdose. A woman in her early 30s was admitted to hospital where she developed status epilepticus following an intentional overdose of theophylline and lansoprazole. She developed a profound acidosis and required intubation in the intensive care unit. Following extubation the patient was noted to have a severe amnestic syndrome with poor short-term memory. A work-up to exclude infectious, autoimmune and paraneoplastic causes for encephalitis was undertaken. Cerebrospinal fluid analysis was normal and autoimmune encephalitis titres were negative. Initial MRI brain imaging demonstrated hyperintensities of the mesial temporal lobes bilaterally. Follow-up imaging at 4 months identified further interval reduction but persistent hippocampal hyperintensities. Theophylline toxicity with corresponding amnestic syndrome and hippocampal hyperintensities has been rarely reported. We believe this case with persistent abnormal Montreal Cognitive Assessment Score at 12 months correlates with persistent hippocampal abnormalities seen on imaging.

A prospective study of fungal biomarkers to improve management of invasive fungal diseases in a mixed specialty critical care unit.

PURPOSE: The diagnosis of invasive fungal diseases (IFD) in critical care patients (CrCP) is difficult. The study investigated the performance of a set of biomarkers for diagnosis of IFD in a mixed specialty critical care unit (CrCU). METHODS: A prospective observational study in patients receiving critical care for ≥7days was performed. Serum samples were tested for the presence of: (1-3) - ß-d-glucan (BDG), galactomannan (GM), and Aspergillus fumigatus DNA. GM antigen detection was also performed on bronchoalveolar lavage (BAL) samples. The patients were classified using published definitions for IFD and a diagnostic algorithm for invasive pulmonary aspergillosis. Performance parameters of the assays were determined. RESULTS: In patients with proven and probable IFD, the sensitivity, specificity, PPV and NPV of a single positive BDG were 63%, 83%, 65% and 83% respectively. Specificity increased to 86% with 2 consecutive positive results. The mean BDG value of patients with proven and probable IFD was significantly higher compared to those with fungal colonization and no IFD (p value<0.0001). CONCLUSION: New diagnostic criteria which incorporate these biomarkers, in particular BDG, and host factors unique to critical care patients should enhance diagnosis of IFD and positively impact antifungal stewardship programs.

Neoadjuvant crizotinib in advanced inflammatory myofibroblastic tumour with ALK gene rearrangement.

BACKGROUND: Inflammatory myofibroblastic tumours (IMTs) are rare sarcomas that were first described in the lung. They are composed of myofibroblastic mesenchymal spindle cells accompanied by an inflammatory infiltrate of plasma cells. Complete resection is the treatment of choice. There is currently no standard treatment for inoperable or recurrent disease. Expression of ALK protein triggered by ALK gene rearrangement at chromosome 2p23 has been found in 36%-60% of IMTs. CASE REPORT: We report a rapid early response to crizotinib as neoadjuvant therapy, enabling surgical excision of a large ALK-translocated IMT, which resulted in complete disease clearance. To the best of our knowledge, this is the first case in the literature of a patient with IMT in whom crizotinib was used successfully in the neoadjuvant or curative setting.