Neuro-Behcet's disease misdiagnosed and treated as multiple sclerosis: a deceiving masquerader.

Behcet's disease is a chronic polysymptomatic systemic vasculitis disorder of unknown etiology characterized by several clinical manifestations in multiple organ systems. Involvement of the nervous system occurs in ∼9% of patients with Behcet's disease (ranging from 3 to 30%). Neuro-Behcet's disease is a great masquerader of multiple sclerosis. Diagnosing this disorder might be challenging, especially in a patient who does not fulfill the criteria of Behcet's disease while having a neurological presentation. We report a case of neuro-Behcet's disease who was misdiagnosed as having multiple sclerosis for many years and started on unnecessary disease-modifying therapy for multiple sclerosis. A thorough history, physical examination, and systematic investigations are mandatory to differentiate between these two conditions. Our case presentation raises awareness of the importance of differentiating between these two conditions since the consequences of misdiagnosis are catastrophic. The main challenges differentiating between multiple sclerosis and neuro-Behcet's are clinical and paraclinical, including neuroimaging.

Hyperferritinemia with iron deposition in the basal ganglia and tremor as the initial manifestation of follicular lymphoma.

Iron is an essential element for brain cells that is required for the transport of oxygen, energy generation, myelin synthesis, and production of neurotransmitters. Disturbances in the homeostatic mechanisms of iron metabolism may cause iron accumulation with subsequent oxidative stress and cellular damage. It is important to consider the possibility of both a genetic and acquired iron overload syndrome in patients with neurological symptoms and hyperferritinemia. In this article, we are reporting a unique case characterized by hyperferritinemia with widespread deposition of iron in more than one bodily organ, movement disorder, and hidden malignancy. We stress on the importance of early diagnosis using a systematic approach since early treatment with iron chelators is warranted to prevent the progression of neurological symptoms. Even those patients who have no neurological symptoms with high iron should be monitored closely and treated early to avoid the deposition of iron in the brain. Whether brain damage and MRI changes are reversible completely or partially is a subject for further research.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel disease caused by homozygous or compound heterozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HtrA1). Given the rare nature of the disease, delays in diagnosis and misdiagnosis are not uncommon. In this article, we reported the first case of CARASIL from Saudi Arabia with a novel homozygous variant c.1156C>T in exon 7 of the HTRA1 gene. The patient was initially misdiagnosed with primary progressive multiple sclerosis and treated with rituximab. CARASIL should be considered in the differential diagnosis of patients with suspected atypical progressive multiple sclerosis who have additional signs such as premature scalp alopecia and low back pain with diffuse white matter lesions in brain MRI. Genetic testing is important to confirm the diagnosis.

Guillain-Barré Syndrome Following the BNT162b2 mRNA COVID-19 Vaccine.

PURPOSE: The onset of the COVID-19 (SARS-CoV-2) pandemic in December 2019 created the need for multiple scientific research activities and clinical trials in an attempt to find solutions to mitigate the impact of the virus. One of the important tools to combat the virus is the development of vaccination programs. All types of vaccines have been associated with a mild to severe risk of neurological adverse events. One of these severe adverse events is Guillain-Barré syndrome. CASE REPORT: Here, we describe a case of Guillain-Barré syndrome after the first dose of the BNT162b2 mRNA COVID-19 vaccine and review the literature to increase the current knowledge regarding this complication. CONCLUSION: Guillain-Barré syndrome after COVID-19 vaccination is responsive to treatment. The benefits of administering the vaccine outweigh the risks. Due to the negative impact of COVID-19, it is essential to recognize the development of neurological complications that are potentially associated with vaccination, including Guillain-Barré syndrome.

Rapid implementation of telemedicine in Neurology during the COVID-19 pandemic: Challenges in King Abdulaziz Medical City-Jeddah.

Telemedicine is defined as the remote medical practice of delivering healthcare services to the underserved using information and communication technology. It encompasses a wide range of medical activities, including diagnosis, treatment, disease prevention, and education. The coronavirus disease of 2019 (COVID-19) pandemic has caused significant social dislocation, negative economic impact, and a major change in medical practice in Saudi Arabia. Telemedicine has rapidly moved to the frontline of healthcare practice due to the demand for prevention and mitigation strategies. It has been encouraged and facilitated with huge government support. Herein, we describe the virtual clinical practice of the neurology department at King Abdulaziz Medical City-Jeddah in response to the COVID-19 pandemic. This narrative review is an urgent call to improve the perception and knowledge of both medical personnel and patients concerning telemedicine and to support the utilization of advanced information and communication technology.

A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia.

Ataxia telangiectasia is a hereditary multisystem disorder with a wide range of symptoms and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase with a domain related to a phosphatidylinositol 3-kinase (PI-3 kinase) proteins that respond to DNA damage by phosphorylating key substrates involved in DNA repair and/or cell cycle control. The characteristics of the disease include progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctiva, immunodeficiency with frequent infections, and an increased risk for malignancy. In this article, we report a novel homozygous missense variant c.1516G > T, p.(Gly506Cys) in the ATM gene causing ataxia telangiectasia in a Saudi female. This variant led to the development of a later onset disease (at the age of 14 years) and the classical neurodegenerative process both clinically and on imaging. However, no immune system dysfunction or endocrine abnormalities were present. This is the second novel mutation in this gene so far reported from Saudi Arabia. The novel mutation described in the present study widened the genetic spectrum of ATM-associated diseases, which will benefit studies addressing this disease in the future.

Vaccine-Induced Immune Thrombotic Thrombocytopenia with Disseminated Intravascular Coagulation and Death following the ChAdOx1 nCoV-19 Vaccine.

Coronavirus is a novel human pathogen causing fulminant respiratory syndrome (COVID-19). Although COVID-19 is primarily a disease of the lungs with florid respiratory manifestations, there are increasing reports of cardiovascular, musculoskeletal, gastrointestinal, and thromboembolic complications. Developing an effective and reliable vaccine was emergently pursued to control the catastrophic spread of the global pandemic. We report a fatal case of vaccine-induced immune thrombotic thrombocytopenia (VITT) after receiving the first dose of the ChAdOx1 nCoV-19 vaccine. We attribute this fatal thrombotic condition to the vaccine due to the remarkable temporal relationship. The proposed mechanism of VITT is production of rogue antibodies against platelet factor-4 resulting in massive platelet aggregation. Healthcare providers should be aware of the possibility of such fatal complication, and the vaccine recipients should be warned about the symptoms of VITT.

Perceptions and attitudes of different healthcare professionals and students toward interprofessional education in Saudi Arabia: a cross-sectional survey.

Interprofessional education (IPE) is now regarded as an extremely important approach in the academic field for preparing healthcare students to provide patient care in a collaborative team environment. In this study, we examine the perceptions and attitudes toward IPE in a Saudi specialized health sciences university. This study is a cross-sectional survey at King Saud bin Abdulaziz University for Health Sciences and King Abdulaziz Medical City in Jeddah, Saudi Arabia. The instruments used in this study were pre-designed self-administered questionnaires identified from the literature (The Nebraska Interprofessional Education Attitudes Scale (NIPEAS) and The Student Perceptions of Interprofessional Clinical Education-Revised (SPICE-R). A total of 668 individuals participated in the study. The majority of the participants were between the ages of 18 and 25 (79.2%) and were students (77.1%) from medicine, nursing and applied medical science. The participants' responses were primarily positive for all items of the NIPEAS and most of the items of the SPICE-R. The results of this study indicate that students and healthcare professionals have positive perceptions and readiness toward IPE, and implementation of shared learning is highly encouraged. The integration of IPE in the curriculum is recommended to improve teamwork and patient care outcomes.

The spectrum of muscle pathologies: Three decades of experience from a reference laboratory in Saudi Arabia.

BACKGROUND: When investigating patients with a suspected neuromuscular disorder, a muscle biopsy is considered an instrumental tool to reach a definitive diagnosis. There is a paucity of publications that assess the diagnostic utilization and yield of muscle biopsies. We intend to present our experience in this regard over an extended period of more than three decades. METHODS: This is an observational retrospective cohort study in which we collected pathology reports for muscle biopsies diagnosed at our reference lab between 1986 and 2017. RESULTS: We identified a total of 461 cases of muscle biopsy performed, which fulfilled the inclusion criteria. Pediatric cases defined as ≤14 years of age constituted a significant proportion of cases (n = 275, 60%). Normal biopsies were reported in 27% of cases (n = 124), and in 4%, the biopsies were non-diagnostic. The most common pathologies reported were non-specific myopathy (n = 72, 16%), dystrophy (n = 71, 15%), and neurogenic disorders (n = 60, 13%). CONCLUSION: In conclusion, the muscle biopsy will continue to play a crucial role, as a gold standard or as a complementary investigation, in the diagnosis of certain neuromuscular disorders. Increasing the yield and accuracy of muscle pathology should be the main concern and priority to neuropathologists reporting muscle biopsies. In addition, utilizing next-generation sequencing and other molecular techniques have changed the location of muscle biopsy in the algorithm of the diagnosis of neuromuscular disorders. This paper is an urgent call to establish the Saudi Neuropathology Society and the muscle pathology and neuromuscular disorders registry.

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL; OMIM #125310) is the most common cause of monogenic familial cerebral small vessel disease. It typically manifests at middle adulthood with highly variable clinical features including migraine with aura, recurrent transient ischemic attacks or ischemic strokes, mood disorders, and progressive cognitive decline. It is caused by mutations in the NOTCH3 gene, which maps to the short arm of chromosome 19 and encode for epidermal growth factor-like repeats. In this article, we report a 40-year-old male patient who presented with a two-year history of progressive cognitive decline including impaired attention, memory, executive functions, and processing speed whose family history was strongly positive for young-onset ischemic stroke and memory impairment. His father, uncle, and grandfather died due to ischemic strokes and cognitive impairment (similar condition). A whole exome sequencing to the patient (proband II-1) revealed a novel heterozygous missense variant c.3009G>T, p.(Trp1003Cys) (chr19;15291625; hg19) in exon 19 of the NOTCH3 gene. Sanger sequencing was used to confirm the variant in other family members. This variant has not been described in the literature so far. The novel mutation described in the present study widened the genetic spectrum of NOTCH3-associated diseases, which will benefit studies addressing this disease in the future. CADASIL remains a disabling disorder leading to medical retirement in our patient due to late clinical presentation, lack of family history taking prior to joining the military, and lack of curative therapy. Further research for therapeutic options is needed including stem cell therapy .

Epilepsy and driving: Local experience from Saudi Arabia.

INTRODUCTION: The issue of epilepsy and driving has legal, social, and psychological implications. Many countries in the world restrict driving to people prone to epilepsy. There is no data from Saudi Arabia regarding the prevalence of driving among patients with epilepsy and their driving practices. In addition, to the best of our knowledge, there are no local laws or guidelines concerning driving for patients with epilepsy in Saudi Arabia. This study aimed to determine the prevalence of driving among male patients with epilepsy at King Abdulaziz Medical City in Jeddah, Saudi Arabia and determine the barriers and difficulties that they are suffering from especially when it comes to driving. METHODS: This is a cross-sectional study that was conducted between July 2017 and June 2018 at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The inclusion criteria of this study were male patients with epilepsy 18 years of age or above. The exclusion criteria were female patients at any age (since they were not allowed to drive at the time of the study) and male patients less than 18 years of age. This study utilized a self-made self-administered 25-item questionnaire. RESULTS: A total of 182 surveys were distributed, and 164 individuals completed the survey (90.1% response rate). Most of the participants have a driving license (95.7%) and drive a car (98.8%). Almost all participants (99.4%) mentioned that nobody asked them whether they have epilepsy or not when issuing a driver's license. In addition, 94.5% were never told not to drive after the diagnosis of epilepsy. Regarding restrictions to driving, 98.7% reported that they drive at all times without any restrictions, and 92.7% reported that they drive both inside and outside the city. CONCLUSION: This study showed that the number of male patients with epilepsy driving cars was extremely high, accounting for almost all the patients in this study, with most of them doing several wrong practices during driving. Other major issues include the lack of specific laws regulating driving for patients with epilepsy and no counseling from physicians about driving after the diagnosis of epilepsy. We recommend developing the Saudi driving regulations for patients with epilepsy, and this study is considered an urgent call for action for the formation of a local driving regulations taskforce. Health education about the risk of driving should be disseminated, especially for patients with uncontrolled epilepsy.

Hashimoto`s Encephalopathy Presenting with Progressive Cerebellar Ataxia.

Hashimoto`s encephalopathy is a rare neurological syndrome occurring in patients with autoimmune thyroid disease. The diagnosis of Hashimoto`s encephalopathy is based on the clinical picture with the presence of serum anti-thyroid antibodies regardless of the thyroid disorder. Acquired cerebellar ataxia associated with Hashimoto`s disease is a rare occurrence. In this article, we present a case who had progressive non-familial autoimmune pancerebellar disease in association with an increased level of thyroid peroxidase and thyroglobulin antibodies. The patient was managed aggressively with both intravenous immunoglobulins and plasma exchange, which stopped the progression of the disease and allowed for slow improvement. Early diagnosis of Hashimoto`s encephalopathy with autoimmune cerebellar ataxia and intervention with immunomodulatory therapy are of paramount importance. Close monitoring after steroid therapy is important since some patients with this rare disease might be resistant to steroid therapy and require aggressive immunomodulatory therapy.

Unethical human research in the field of neuroscience: a historical review.

Understanding the historical foundations of ethics in human research are key to illuminating future human research and clinical trials. This paper gives an overview of the most remarkable unethical human research and how past misconducts helped develop ethical guidelines on human experimentation such as The Nuremberg Code 1947 following WWII. Unethical research in the field of neuroscience also proved to be incredibly distressing. Participants were often left with life-long cognitive disabilities. This emphasizes the importance of implicating strict rules and ethical guidelines in neuroscience research that protect participants and respects their dignity. The experiments conducted by German Nazi in the concentration camps during WWII are probably the most inhumane and brutal ever conducted. The Nuremberg Code of 1947, one of the few positive outcomes of the Nazi experiments, is often considered the first document to set out ethical regulations of human research. It consists of numerous necessary criteria, to highlight a few, the subject must give informed consent, there must be a concrete scientific basis for the experiment, and the experiment should yield positive results that cannot be obtained in any other way. In the end, we must remember, the interest of the patient must always prevail over the interest of science or society.

Fatal serotonin syndrome in a patient with Marchiafava-Bignami disease: Combined neurological and psychiatric emergency.

Marchiafava-Bignami disease (MBD) is a rare fatal neurological disorder characterized by demyelination, primary degeneration, and necrosis of the corpus callosum. Although MBD is mostly associated with chronic alcohol consumption and malnutrition, it has been reported in non-alcoholic patients. Serotonin syndrome is a rare but potentially fatal side effect of antidepressants that results from overstimulation of both central and peripheral serotonergic receptors. In this report, we present a case with fatal serotonin syndrome happening in a non-alcoholic patient with the chronic form of MBD. To our knowledge, this case is the first report of fatal serotonin syndrome due to citalopram in an MBD patient. The present report may indicate that citalopram and other SSRIs should not be used in patients with MBD. Our case is also among few reported cases in the literature where no cause was identified in a patient with no previous history of alcohol intake.

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.

OBJECTIVE: To identify genetic variation involved in primary microcephaly. METHODS: In present study we identified 4 generation Saudi family showing primary microcephaly. We performed whole exome sequencing along with Sanger sequencing to find the genetic defect in this family. This study was conducted in King Abdulaziz University started from 2016 and the results presented in this manuscript are from one of the family. RESULTS: Two novel missense variants (c.982G>A and c.1273T>A) were identified in heterozygous state in exon 8 of MCPH1 gene. The detected missense variants cause a tyrosine to asparagine substitution of residue 425 and a valine to isoleucine substitution at residue 310. MCPH1 gene encodes a DNA damage response protein. The encoded protein play a role in G2/M DNA damage checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. The respective mutation was ruled out in 100 control samples. CONCLUSION: We found novel compound heterozygous mutation in Saudi family that will help to build database for genetic mutations in population and pave way to devise strategies to tackle such disorders in future.

Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature.

Desmoplastic infantile astrocytoma (DIA) is a rare, supratentorial, dural-based, large cystic tumor that usually arises in the first 24 months of life. However, non-infantile cases were also reported in the literature. Desmoplastic infantile astrocytoma and desmoplastic infantile ganglioglioma (DIG) are both classified as grade I astrocytoma by the World Health Organization (WHO). Grossly, DIA/DIG are large tumors composed of solid and cystic portions. Although large in nature, they are slow-growing tumors, with good prognosis after complete surgical removal, and rarely require a chemotherapy or radiotherapy. However, there have been few cases of DIA that demonstrated malignant features and/or spontaneous recurrence or metastases which necessitates close-up monitoring after surgical intervention. Herein, we report a case of an 18-month-old boy who presented with progressive head enlargement that was discovered to be due to a large left frontal predominantly cystic tumor. The patient underwent subtotal resection (STR) and was diagnosed as DIA on histopathological examination. Over a duration of 18 months of follow-up, the patient's status deteriorated, and he eventually died.
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Quality of life among multiple sclerosis patients in Saudi Arabia.

OBJECTIVE: To assess quality of life in multiple sclerosis (MS) patients and determine the factors associated with levels of quality of life in MS patients in a public hospital in Saudi Arabia. METHODS: A cross-sectional study was conducted from June 2016 to April 2017 in King Abdulaziz Medical City, Jeddah, Kingdom of Saudi Arabia. Multiple sclerosis patients attending the outpatient and inpatient services were approached and recruited to participate in the study. The Arabic version of EuroQOL-5 Dimensions instrument (EQ-5D) was utilized for the assessment of MS patients quality of life. RESULTS: Data on quality of life were obtained from 292 patients. The reported quality of life of MS patients as measured by the EQ-5D index value score was 0.31+/-0.51 and the EQ-VAS score was 73.87+/-23.41, respectively. It was found that quality of life determined numerically in the EQ-5D index value and EQ-VAS deteriorates proportionally according to the disease duration. CONCLUSION: Multiple sclerosis is associated with a considerable effect on the patients quality of life. It continues to be challenging to manage both medically and psychosocially. Clinicians should consider the assessment of quality of life as routine practice along with the other important measures including symptomatic evaluation, laboratory tests, and neuroimaging to provide a holistic care of their MS patients.

Neurological complications of bariatric surgery.

OBJECTIVE: To review and analyze the neurological complications from bariatric surgery in Kingdom of Saudi Arabia. METHODS: This cross sectional study was carried out in King Abdulaziz Medical City, Jeddah, Kingdom of Saudi Arabia from January 2009 to December 2015. Important personal and clinical data were collected from the charts of the patients who underwent bariatric surgery. Data on follow up visit and remote complication if present, was also collected. All patients with neurological complications were reviewed in detail. The significant difference was calculated by using T-test and p-value<0.05 was considered significant. RESULTS: A total of 451 patients underwent bariatric surgery, 15 cases had neurological complications (3%). Axonal polyneuropathy was the most frequent neurological complication, but cases of Wernicke syndrome, vitamin B12 deficiency, Guillain-Barre syndrome and copper deficiency were also identified. Fourteen patients (93.3%) had full recovery from the neurological signs and symptoms; one patient died. CONCLUSION: Bariatric surgery is not free of potential neurological complications. Complications may affect both central and peripheral nervous system and death is a possibility. Multidisciplinary care including consultation of different teams is highly recommended.