Mutations in the DNA methyltransferase 1 gene (DNMT1) were reported to cause two phenotypes: OMIM 604121 and OMIM 614116. The first phenotype includes autosomal dominant cerebellar ataxia, deafness, and narcolepsy, which were reported to be caused by mutations in exon 21. The second phenotype includes hereditary sensory and autonomic neuropathy type 1E, which was suggested to be caused by mutations in exon 20 and 21. In this article, we report a novel heterozygous missense variant c.898A>C, p.(Lys300Gln) in exon 12 of DNMT1 in a young woman who presented with pure cerebellar ataxia. This report indicates that a mutation in exon 12 may lead to pure cerebellar ataxia. Another possibility is that the patient is currently in an early stage of the disease, and as the disease progresses, she will have more manifestations. To confirm or exclude this possibility, a subsequent follow-up study reporting the disease progression in this patient may be needed. Further reports of cases with the same mutation are needed to confirm the phenotype of this mutation.
Cerebellar Ataxia* ; Databases, Genetic ; Deafness ; Disease Progression ; DNA ; DNA Methylation ; Exons ; Female ; Follow-Up Studies ; Hereditary Sensory and Autonomic Neuropathies ; Humans ; Narcolepsy ; Phenotype ; Saudi Arabia

BACKGROUND AND PURPOSE: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an immune-mediated chorioretinal disease that causes acute visual symptoms with characteristic ophthalmoscopic findings. Neurological complications are rarely reported in the literature. Here we report two new cases of APMPPE that presented with neurological manifestations, one of which was associated with peripheral neuropathy, which has not been described before. METHODS: A retrospective database review of all patients with a diagnosis of APMPPE was performed. Clinical, ophthalmological, and neurological data were analyzed, and only cases of APMPPE with neurological complications were included. A literature review of several databases was also performed, and previous case reports were reviewed and analyzed in detail. RESULTS: In total, 56 cases of APMPPE-associated neurological complications were included in the analyses: 54 from the literature and 2 from our own practice. The most common complication was cerebral vasculitis, which affected 28 patients (50%), followed by headaches in 15 patients (26.8%). The other complications include sixth-cranial-nerve palsy, transient hearing loss, meningoencephalitis, cavernous sinus thrombosis, and viral meningitis. CONCLUSIONS: This report adds to the literature of a novel association of APMPPE with peripheral neuropathy, and comprehensively reviews the neurological manifestations of this disease. A high level of suspicion should be applied when dealing with a case of APMPPE. We recommend applying detailed clinical neurological examinations and magnetic resonance imaging to APMPPE patients, and then early steroid treatment if the examination is positive or even suspicious. Early treatment with steroids and long-term treatment with immunosuppressive azathioprine with interval neurological evaluations will contribute positively to the outcomes and avoid fatal complications, namely strokes.
Adrenal Cortex Hormones ; Azathioprine ; Cavernous Sinus Thrombosis ; Diagnosis ; Headache ; Hearing Loss ; Humans ; Magnetic Resonance Imaging ; Meningitis, Viral ; Meningoencephalitis ; Neurologic Examination ; Neurologic Manifestations* ; Paralysis ; Peripheral Nervous System Diseases ; Retrospective Studies ; Steroids ; Stroke ; Vasculitis, Central Nervous System

Background: Among the different aims of medical education, the provision of society with skilled, professional, and knowledgeable healthcare workers who maintain and develop their expertise over a lifetime career is important. The achievement of this goal is linked with the professional development of both faculty members and healthcare workers. This study aims to measure the perception of faculty members regarding their views about the goals of faculty development programs, practices and activities, and factors that determine their achievement. Methods: A cross-sectional survey was conducted in multiple universities in the Western region of Saudi Arabia. The participants were given a pre-designed self-administered questionnaire generated from literature. The survey questionnaire consisted of three sections that were designed to assess the faculty members’ perception on the faculty development program. Results: A total of 210 faculty members participated in the study. The most important perceived goal was to motivate teachers to become better teachers. The most important perceived practice was establishing a positive climate for teaching and learning. The most important perceived factor was skilled and dedicated staff support. Conclusion The results of this study demonstrate that faculty members have positive perceptions regarding all aspects of faculty development programs. This study will raise awareness regarding the importance of faculty development programs in sustaining educational vitality. We recommend the implementation and maintenance of comprehensive faculty development programs in Saudi universities.

Purpose: Atherosclerotic stenosis of the extracranial carotid artery accounts for approximately 20% of all strokes. Both carotid artery endarterectomy and carotid artery angioplasty with stenting (CAAS) are recommended for symptomatic patients with 50% or more stenosis or asymptomatic patients with 70% or more stenosis. CAAS is under-reported in Saudi Arabia, as evidenced by a thorough literature search. In this article, we aim to share our experience of CAAS to call for the necessity of conducting more research on stroke and emphasize the local need of utilizing more endovascular treatments like CAAS. Materials and Methods: A retrospective single-center observational study was conducted at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The inclusion criteria consisted of all adult patients (18 years and above) with carotid stenosis who were treated with CAAS. Results: A total of 16 patients were included in the study. The mean age of the participants was 66.9±13.5 years (range 30–87 years). All patients were symptomatic (had a previous stroke or transient ischemic attack). The procedure was successful in 14 patients (87.5%), while it failed in 2 patients (12.5%) due to technical reasons. All patients had no stroke or myocardial infarction within 30 days of the procedure. Conclusion Despite the advancement in medicine with free healthcare services in Saudi Arabia, the interventional procedures for secondary prevention of strokes are underutilized. Collaboration between different hospitals will be extremely helpful since few centers in each city are providing such treatments by an expert neurointerventionist and/or strokologist. The good selection of candidates, optimal management of comorbid conditions, and multidisciplinary care may improve outcomes and reduce mortality.

Strokes in the territory of the posterior cerebral artery (PCA) may rarely cause acute confusion or delirium, especially when bilateral or the dominant PCA are involved. Delirium as the only initial presentation of basilar artery thrombosis (with no brainstem or long tract findings) is an extremely rare occurrence. In this article, the clinical presentation of our case was an acute confusion with septic shock-like features (tachycardia, hypotension, and leukocytosis) for a few days without any focal deficit. These symptoms pointed more toward a non-focal neurological cause, especially meningoencephalitis. This case highlights the importance of detailed history and thorough evaluation of high-risk patients who present with an acute devastating neurological syndrome. In addition, knowledge of the atypical presentation of stroke should be acquired, and the limitation of an unenhanced computed tomography scan of the brain without vascular imaging should be known. Investigating patients with a sudden acute confusion should be directed toward the evaluation of the etiology in a stepwise manner. However, the pace of investigations should be fast to establish the diagnosis and optimize the outcome.

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.