Lafora Body Epilepsy: A Challenging Diagnosis.

Lafora body disease (LBD) is a progressive myoclonic genetic epilepsy syndrome characterized by the presence of Lafora inclusion bodies within neurons and other cells. It is a complex neurodegenerative disease presenting in adolescence with seizures, myoclonus, and rapid cognitive decline. Diagnosis is often challenging requiring a thorough history including family history, identification of Lafora bodies in apocrine sweat glands of axillary skin, and specific DNA sequencing. There is no cure and management is mainly supportive. We present one of the only few cases from Pakistan of LBD based on characteristic biopsy findings, history of similar ailment in siblings, and EPM2B mutation. This case emphasizes the need for physicians and neurologists to be aware of diagnostic challenges associated with LBD and its characteristic findings. Key Words: Lafora body, Progressive epilepsy, Myoclonus, Axillary skin biopsy, EPM2B.

Trends in Stroke Presentations before and during the COVID-19 Pandemic: A Meta-Analysis.

BACKGROUND AND PURPOSE: There are reports of decline in the rates of acute emergency presentations during coronavirus disease 2019 (COVID-19) pandemic including stroke. We performed a meta-analysis of the impact of COVID-19 pandemic on rates of stroke presentations and on rates of reperfusion therapy. METHODS: Following the Meta-analysis Of Observational Studies in Epidemiology (MOOSE) guidelines, we systematically searched the literature for studies reporting changes in stroke presentations and treatment rates before and during the COVID-19 pandemic. Aggregated data were pooled using meta-analysis with random-effect models. RESULTS: We identified 37 observational studies (n=375,657). Pooled analysis showed decline in rates of all strokes (26.0%; 95% confidence interval [CI], 22.4 to 29.7) and its subtypes; ischemic (25.3%; 95% CI, 21.0 to 30.0), hemorrhagic (27.6%; 95% CI, 20.4 to 35.5), transient ischemic attacks (41.9%; 95% CI, 34.8 to 49.3), and stroke mimics (45.6%; 95% CI, 33.5 to 58.0) during months of pandemic compared with the pre-pandemic period. The decline was most evident for mild symptoms (40% mild vs. 25%-29% moderate/severe). Although rates of intravenous thrombolytic (IVT) and endovascular thrombectomy (EVT) decreased during pandemic, the likelihood of being treated with IVT and EVT did not differ between the two periods, both in primary and in comprehensive stroke centers (odds ratio [OR], 1.08; 95% CI, 0.94 to 1.24 and OR, 0.95; 95% CI, 0.83 to 1.09, respectively). CONCLUSIONS: Rates of all strokes types decreased significantly during pandemic. It is of paramount importance that general population should be educated to seek medical care immediately for stroke-like symptoms during COVID-19 pandemic. Whether delay in initiation of secondary prevention would affect eventual stroke outcomes in the long run needs further study.

Pre-hospital triage of suspected acute stroke patients in a mobile stroke unit in the rural Alberta.

Mobile Stroke Unit (MSU) expedites the delivery of intravenous thrombolysis in acute stroke patients. We further evaluated the functional outcome of patients shipped to a tertiary care centre or repatriated to local hospitals after triage by MSU in acute stroke syndrome in rural northern Alberta. Consecutive patients with suspected acute stroke syndrome were included. On the basis of neurology consultation and, Computed Tomography findings, patients, who were thrombolysed or needed advanced care were transported to the Comprehensive stroke center (CSC) (Triage to CSC group). Other patients were repatriated to local hospital care (Triage to LHC group). A total of 156 patients were assessed in MSU, 73 (46.8%) were female and the mean age was 66.6 ± 15 years. One hundred and eight (69.2%) patients, including 41 (26.3%) treated with thrombolysis were transported to the CSC (Triage to CSC group) and 48 (30.8%) were repatriated to local hospital care. The diagnosis made in MSU and final diagnosis were matching in 88% (95) and 91.7% (44, p = 0.39) in Triage to CSC and Triage to LHC groups respectively. Prehospital triage by MSU of acute stroke syndrome can reliably repatriate patients to the home hospital. The proposed model has the potential to triage patients according to their medical needs by enabling treatment in home hospitals whenever reasonable.

Review of acute ischaemic stroke in Pakistan: progress in management and future perspectives.

Ischaemic stroke is a major cause of neurological morbidity and mortality. The objective of this review article is to summarise facts pertaining to acute ischaemic stroke and its various aspects in a developing country like Pakistan, where resources are limited and the healthcare system is underdeveloped. No large-scale epidemiological studies are available to determine the true incidence of stroke in Pakistan. We reviewed the available literature on stroke from Pakistan and through this article we primarily aim to present the current acute ischaemic stroke management in Pakistan in juxtaposition to that of the developed world. We also intend to highlight areas for future development and improvement in management. The routine practice in Pakistan is that of using stat dose of aspirin in emergency (ER) at large with only a handful of centres offering thrombolytic therapy with recombinant tissue plasminogen activator for acute ischaemic stroke. This too is faced with the problem of long window periods before the patient reaches a proper stroke care centre. The facilities of interventional therapies like arterial thrombolysis and endovascular surgery are non-existent and rehabilitation facilities limited. The opportunities for training physicians in acute stroke are also scarce. Stroke in children is underdiagnosed and that in women not availing facilities at stroke care centres. While basic research has gained pace regarding local demographic data, advanced research and genetic studies are extremely limited. The field of stroke neurology needs to grow at a substantial pace in Pakistan to be at par with the developed world.

Coexistent Mitral Stenosis and Multiple Sclerosis: An Unprecedented Case.

Mitral stenosis is a valvular heart disease characterised by narrowing of mitral orifice. It can lead to a dilated left atrium with atrial fibrillation culminating into thrombus formation. Patients with mitral stenosis, presenting with stroke-like episodes, most likely experience cardio-embolic phenomenon; but unusual and unprecedented associations do occur. Reported association of cardiac MS with demyelinating CNS MS has never been proven; but authors have speculated theories based on case reports and series. We narrate the case of a 28-year gentleman known to have severe mitral stenosis, who presented with history of multiple stroke-like episodes. During each episode, he had CT brain done and was labelled as having recurrent embolic strokes. We investigated in detail, and the patient was found to have classical MRI features and CSF findings of multiple sclerosis with multiple lacunar infarcts, warranting different line of treatment in addition to cardio-embolic strokes.

Weston-Hurst syndrome: a rare fulminant form of acute disseminated encephalomyelitis (ADEM).

A 25-year-old Pakistani woman presented to the emergency department with a 2-day history of rapidly progressive tetraplegia followed by sudden loss of consciousness. This was preceded by an upper respiratory tract infection. On examination, she was deeply comatose with a GCS of 3/15 and intact brainstem reflexes. She was in respiratory distress, and an endotracheal tube had been passed. She had flaccid quadriplegia with depressed deep tendon reflexes and upgoing plantar response. Her MRI brain with contrast showed extensive brainstem involvement with haemorrhagic foci along with signal changes in the corpus callosum. The patient was put on a respirator. She was given IV methyl prednisolone, and later on 5 sessions of plasmapheresis were performed. After 3 months, the patient gradually recovered and started communicating. Her motor power had improved to 2/5 in her arms and 1/5 in the lower extremities. She was then discharged for further rehabilitation at home.

High HbA1c is associated with higher risk of ischaemic stroke in Pakistani population without diabetes.

CONTEXT: The role of glycated haemoglobin (HbA1c) in the prediction of ischaemic stroke in individuals without diabetes is underestimated. AIMS: We performed a study to analyse the role of HbA1c in the risk prediction of ischaemic stroke in Pakistani population without diabetes. We further studied the difference between HbA1c values of individuals with diabetes and without diabetes with stroke. SETTINGS AND DESIGN: Single centre, case-control. MATERIALS AND METHODS: In phase I, a total of 233 patients without diabetes with ischaemic stroke and 245 as controls were enrolled. Association of HbA1c levels, lipid profiles and blood pressure recordings with ischaemic stroke was analysed. In phase II, comparison was done between diabetics and non-diabetics with stroke. STATISTICAL ANALYSIS: Comparison of the mean variables was performed with Student's t-tests. Logistic regression analysis with ischaemic stroke as the dependent variable was performed for phase I. RESULTS: In phase I, the ischaemic stroke group had significantly higher HbA1c levels (5.9±2.9% vs 5.5±1.6%) compared with controls (p<0.05). Triglyceride cholesterol, high-density lipoprotein cholesterol, systolic blood pressure, diastolic blood pressure and HbA1c were the significant determinants of stroke (p<0.05). In phase II, mean HbA1c values were significantly higher in the diabetes group (7.6±2.1 vs 6.1±2.3) (p<0.05) but other parameters were not statistically significantly different (p>0.05). CONCLUSIONS: Higher HbA1c indicated a significantly increased risk for ischaemic stroke. An HbA1c value above 5.6% (prediabetic range) predicted future risk of stroke and efforts to maintain glucose level within the normal range (≤5.6%) in individuals with high cardiovascular risk are important.

Subarachnoid hemorrhage secondary to forceful sneeze.

Subarachnoid hemorrhage (SAH) is a relatively less common but important neurological condition comprising 5% of all the cerebrovascular accidents. In most populations the reported incidence is 6-7 per 100,000 person-years and one-third of survivors become dependent. It is a serious but potentially treatable cause of neurological morbidity. Multiple authors have identified the most unusual novel associations and triggers of subarachnoid bleeds over the past decade. We herein report a rare case of subarachnoid hemorrhage leading to focal neurological deficit in a middle aged man secondary to forceful sneeze.

Intralobar bronchopulmonary sequestration with large aberrant vessel presenting as recurrent pneumonias.

Bronchopulmonary sequestration is a rare congenital malformation of the lower respiratory tract comprising of a nonfunctioning lung tissue mass that lacks normal communication with the tracheobronchial tree. The diagnosis may be easily missed as many of the symptoms of bronchopulmonary sequestration overlap with that of other pulmonary diseases. Bronchopulmonary sequestration can be complicated by recurrent infections, hemorrhage and malignant transformation and, therefore, needs to be timely diagnosed and resected to decrease both morbidity and mortality. A high degree of suspicion in the differential diagnosis helps diagnose the positive cases. The parenchymal abnormalities associated with bronchopulmonary sequestration are best visualized using computed tomography, although their appearance is variable. We report the case of a 14 years old boy with intralobar bronchopulmonary sequestration with the sole manifestation of recurrent pneumonias.

Iatrogenic post biopsy hemobilia with pseudoaneurysm.

Hemobilia is defined as bleeding into the biliary tree from an abnormal communication between a blood vessel and bile duct. It is an uncommon cause of upper gastrointestinal hemorrhage and iatrogenic most of the times. We report a case of hemobilia secondary to percutaneous liver biopsy presenting with classical Quincke's triad in a young lady which was treated with combined biliary balloon sweep thrombectomy and transarterial embolization for complete resolution of symptoms.

Osmotic nephrosis with mannitol: review article.

Mannitol is commonly used to lower intracranial and intraocular pressures. Large doses/massive infusions of mannitol have been found to be associated with acute renal failure (MI-ARF), that is, osmotic nephrosis. While many researchers have reported individual experiences with this pathology, we felt that there is need of an updated comprehensive review of all reported cases with elaboration of etiology, pathogenesis, diagnosis and management plan for MI-ARF. The purpose of the present communication is to share our own experience with MI-ARF, to review the effect of mannitol on kidney function and to highlight the dynamics of MI-ARF with considerations for the cautious use of mannitol in patients with risk factors for kidney diseases.

Right atrial invasion by metastatic esophageal adenocarcinoma with direct connection to liver.

Common causes of right sided intra-cardiac atrial masses include primary cardiac tumors (atrial myxoma), atrial thrombus, tumor thrombus with hepatocellular or other thoracoabdominal cancers and metastatic lesions. Invasion of atria by gastrointestinal tumors is rare and that with esophageal ones seldom observed. Esophageal cancers rather present with dysphagia, odynophagia or systemic symptoms. Due to the lack of a serosal layer, esophageal tumors usually spread early in their course. Typical sites of spread include liver, gut, mediastinum, lungs and draining lymph nodes. We report a case of metastatic esophageal adenocarcinoma presenting with direct extension of metastatic tumor thrombus from liver to right atrium via inferior vena cava.

Diffuse large B-cell lymphoma of stomach presenting with paraneoplastic cerebellar degeneration syndrome.

Paraneoplastic syndromes are most often diagnosed in the setting of a known malignancy. It is not uncommon for a paraneoplastic disorder to develop before a cancer is identified. While syndrome of cerebellar degeneration has been identified as a paraneoplastic manifestation of Hodgkin's lymphoma, thymoma, lung and breast cancer, ovarian and testicular tumors, melanoma, renal cell carcinoma, follicular lymphoma and adenocarcinoma of stomach, its association with non-Hodgkin's lymphoma and particularly diffuse large B-cell lymphoma has not been established previously. This case report describes the primary presentation with signs of paraneoplastic cerebellar degeneration as the only manifestation of an underlying diffuse large B-cell lymphoma making it the first of its kind to be formally reported. Furthermore, it also includes the identification of associated paraneoplastic antibodies for this particular syndrome.

A new prognostic scoring system for perforation peritonitis secondary to duodenal ulcers.

OBJECTIVE: To identify prognostic factors for perforated duodenal ulcers and to devise and assess a new scoring system. METHODS: The observational prospective study was conducted at the Mayo Hospital, Lahore in two phases: from March 2010 to September 2011; and from October 2011 to July 2012. It included patients with duodenal ulcer perforation who were observed for identifying factors predicting 30-day prognosis. Each of the predictive factor was given a score based on its severity to devise a new scoring system. Chi-square was used for univariate analysis. Multivariate analysis was done using forward stepwise regression. Accuracy of the new scoring system was calculated using receiver operating curve analysis and its validity was evaluated in the second phase of the study. RESULTS: Predictors of poor prognosis included multiple gut perforations, size of largest perforation >0.5cm, amount of peritoneal fluid >1000ml, simple closure, development of complications, post-operative systemic septicaemia and winter/autumn season of presentation. Overall 30-day mortality rate was 32.3% (n=32) and morbidity rate was 21.2% (n=21). The mean score was higher in the ones with poor prognosis (p=0.001). Similarly, the mean score was greater in those with grave prognosis (p=0.001). The scoring system had an overall sensitivity of 85.12% and specificity of 80.67% and was favourably comparable to other scoring systems. CONCLUSION: The new scoring system is a useful tool in predicting 30-day prognosis for perforated duodenal ulcers in acid peptic disease.

Time for change: conventional interferon regimes should not be the standard of care for management of Pakistani genotype-3 in chronic hepatitis C.

The aim of the present study was to determine the efficacy and side effect profile of conventional interferon alpha-2b plus ribavirin for treating chronic hepatitis C genotype-3 infections in Pakistan. The study was conducted on treating 220 treatment-naïve individuals at KRL Hospital with conventional interferon given for 6 months. Both the response and side effects were analyzed using simple descriptive statistics. Out of total cohort, 84.92% (169 out of 199) achieved end of treatment response (ETR) while 63.31% (126 out of 199) achieved sustained virological response (SVR). Leukopenia, gastrointestinal and miscellaneous systemic complaints were the most common adverse effects. In the context of a low ETR and SVR but a similar side effect profile as that of pegylated regimes, conventional therapy needs to be replaced with peg-interferon as the treatment of choice.