Hussein Algahtani

The Status of Acute Stroke Care in Saudi Arabia: An Urgent Call for Action!

Stroke care in Saudi Arabia lags behind developed countries with only one active stroke centre and seven centres providing thrombolysis out of >350 hospitals nationally; only two hospitals have a stroke team with implemented triaging pathways and beeper system. Via phone interview, we approached 83 neurologists and asked their opinion on stroke care practiced in Saudi Arabia. The study was approved by IRB. There are >350 hospitals in Saudi Arabia and only one centre has a stroke unit, and only seven provide thrombolysis. It is estimated that the number of cases treated with thrombolysis is 50/year for 24 million people. Overall, the neurologists indentified their priorities for improving care as: establishing stroke units; increase public awareness; and training health care providers and collaboration. The neurologists we interviewed view acute stroke care in Saudi Arabia as inadequate. This is an urgent call for actions to start organising nation-wide stroke care to close the existing huge evidence–practice gap.

Tumefactive demyelinating lesions: A comprehensive review

Tumefactive multiple sclerosis or tumefactive demyelinating lesion (TDL) is one of the rare variants of multiple sclerosis (MS) posing a diagnostic challenge and a therapeutic enigma since it is difficult to distinguish from a true central nervous system (CNS) neoplasm or other CNS lesions on magnetic resonance imaging (MRI). The prevalence of TDL is estimated to be 1-3/1000 cases of MS with an annual incidence of 0.3/100,000. This could be an underestimate due to unavailability of a global MS registry and under-reporting of this condition. TDL may occur at any age with the ages between the 20s and 30s being more frequently affected. The pathogenesis of TDL remains unknown, but some speculations have been made. These include the autoimmune theory based on the close relationship between TDLs and MS, Fingolimod use, Fingolimod cessation, and Natalizumab use. The clinical presentation of patients with TDL is variable and atypical for demyelinating disease due to the differences in size and location of the lesion. In this article, we aim to explore TDL comprehensively and provide an evidence-based approach for diagnosis and treatment. This will result in recommendations that may improve the diagnostic accuracy and treatment outcomes. Detailed history, physical examination, and several MRI imaging can spare patients the need for a brain biopsy. Treatment of acute lesions includes corticosteroids and plasma exchange therapy. When a diagnosis of relapsing-remitting MS is fulfilled, conventional first line MS disease modifying therapy should be used. Available recently published data suggests that Fingolimod should not be used in TDL patients, mainly due to the possibility of more than just a chance association between TDLs and initiation of Fingolimod. The use of several new MS disease modifying therapy for the management of TDL remains to be studied. Further well-conducted research including multi-center trials is needed to explain several ambiguous aspects related to the etiology and management of TDL.

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family

Autosomal Recessive Cerebellar Ataxia type 1 (ARCA1), also known as recessive ataxia of Beauce, is an adult onset pure cerebellar ataxia that typically presents with cerebellar ataxia and/or dysarthria. A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein. It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia. In this article, we are presenting two brothers with ARCA1 who were misdiagnosed and treated as multiple sclerosis for more than a decade. We are not only presenting a rare mutation in a Saudi family, but we are also expanding on the heterogeneity of the clinical presentation of this disorder and elaborating on the pathophysiology of neurological involvement. These cases illustrate that white matter abnormalities on MRI may occur in ARCA1. The clinical and radiological spectrum of ARCA1 indicate that this disease is more than a pure cerebellar degeneration. ARCA1 should be considered in the differential diagnosis of patients diagnosed with MS especially in the presence of strong family history. The disease is gradually progressive, and clinical features are atypical for MS. Applying diagnostic criteria for MS is extremely important for confirming or excluding the diagnosis. Detailed history and physical examination are of paramount importance to score the final diagnosis. Another less likely possibility is a chance association, which may question the biological relevance of our data. To confirm or exclude this possibility, further studies reporting different cohorts need to be conducted.

Neurological Complications of Middle East Respiratory Syndrome Coronavirus: A Report of Two Cases and Review of the Literature

Middle East Respiratory Syndrome Coronavirus (MERS-CoV) was first discovered in September 2012 in Saudi Arabia. Since then, it caused more than 1600 laboratory-confirmed cases and more than 580 deaths among them. The clinical course of the disease ranges from asymptomatic infection to severe lower respiratory tract illness with multiorgan involvement and death. The disease can cause pulmonary, renal, hematological, and gastrointestinal complications. In this paper, we report neurological complications of MERS-CoV in two adult patients, and we hypothesize the pathophysiology. The first patient had an intracerebral hemorrhage as a result of thrombocytopenia, disseminated intravascular coagulation, and platelet dysfunction. The second case was a case of critical illness polyneuropathy complicating a long ICU stay. In these cases, the neurological complications were secondary to systemic complications and long ICU stay. Autopsy studies are needed to further understand the pathological mechanism.

Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family

Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue. Sanger sequencing analysis confirmed the presence of a novel mutation c.783_785delGAA in the NTRK1 gene in the two affected members of the family. Early diagnosis and management of different systemic complications including orthopedic, visual, and dental may be useful in the reduction of frequency and severity of these complications.

Susac syndrome misdiagnosed as multiple sclerosis with exacerbation by interferon beta therapy

Susac syndrome is a rare autoimmune disorder characterised by the clinical triad of encephalopathy, retinopathy (branch retinal artery occlusions) and hearing loss. The diagnosis of Susac syndrome may be difficult initially, and it is not uncommon for patients with Susac syndrome to be misdiagnosed with multiple sclerosis. In this case report, we describe a patient who was diagnosed as having multiple sclerosis for three years, with further deterioration after starting treatment with interferon beta-1a. The patient had the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. She had the classic magnetic resonance imaging appearance, with normal magnetic resonance imaging of the spinal cord and absence of oligoclonal bands in the cerebrospinal fluid. Our patient responded well to treatment with a combination therapy and discontinuation of interferon beta-1a. Our observations raise awareness about the importance of the early and correct diagnosis of Susac syndrome, which usually affects young patients, with an excellent prognosis if treated aggressively at an early stage of the disease. Susac syndrome is underdiagnosed and is not uncommonly misdiagnosed as multiple sclerosis. Susac syndrome is a great mimicker of multiple sclerosis, and establishing diagnostic criteria for this syndrome is very useful. In any patient presenting with a progressive disabling neurological disorder associated with callosal lesions and/or hearing loss, and/or visual loss especially in women, Susac syndrome should be suspected.

Biotin–thiamine–responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment

Abstract Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease is characterized by subacute encephalopathy with confusion, dysphagia, dysarthria, and seizures. Methods: We diagnosed a family affected by BTBGD and studied them including prognosis of cases when diagnosed and treated early in the disease process. We also review the literature comprehensively and summarize all published data about this disorder. Results: Since its first description, a total of 89 cases (46 females and 43 males) have been published in the literature. We studied six patients in this article in which three died before a diagnosis was established, one was diagnosed lately and is currently severely affected, and two were diagnosed early and are currently stable on treatment. The clinical phenotype of each family member was studied in details. In addition, a genetic testing was performed using whole exome sequencing and Sanger sequencing which demonstrated a previously reported homozygous mutation in exon 5 of the SLC19A3 gene c.1264A>G (p.Thr422Ala). Conclusion: BTBGD is a treatable condition if recognized early and managed appropriately. The recognition of this disorder is important to avoid incorrect diagnosis and mismanagement. Children presenting with unexplained encephalopathy and MRI abnormalities including bilateral signal alteration of caudate nucleus and putamen should raise the suspicion for BTBGD and be started immediately on biotin and thiamine regimen since the prognosis of the disease is affected by the timing of treatment initiation. We present a large family affected with this disorder with severe interfamilial variability and different prognosis despite having the same mutation and same environment. A clear genotype–phenotype correlation and the clinical heterogeneity remain to be elucidated. Bad prognostic factors observed in our review include early onset of the disease, missed or delayed diagnosis, systemic involvements including respiratory failure and rhabdomyolysis, and severe neurological deficit or radiological changes at the time of diagnosis and treatment initiation. We observed during our literature review that all patients who presented since birth died despite aggressive treatment. This observation may illustrate that early presentation and disease process leads to a more catastrophic outcome.

Vogt Koyanagi Harada Syndrome mimicking multiple sclerosis: A case report and review of the literature

Vogt Koyanagi Harada (VKH) Syndrome, also called uveomeningioencephalitis, is a chronic disorder characterized by inflammation of the uvea, meninges, auditory system, and integumentary system. The association between VKH syndrome and multiple sclerosis (MS) has been reported only once in the literature in a patient who developed VKH syndrome after two years of the diagnosis of MS. In this article, we report a case who was misdiagnosed and treated as MS until she was proven to have VKH syndrome, and a diagnosis of MS was excluded. VKH syndrome is a systemic disorder that may present with clinical and/or radiological features mimicking MS. Applying diagnostic criteria is extremely important for confirming or excluding the diagnosis. Detailed history and physical examination are of paramount importance to score the final diagnosis. Rigorous search for red flags for both conditions is very helpful.

Nosocomial herpes simplex encephalitis: A challenging diagnosis

Herpes simplex encephalitis (HSE) is a rare disease, but it is the most common form of sporadic encephalitis. HSE is transmitted through direct contact and developing nosocomial HSE is rarely reported in the literature. Nosocomial HSE is difficult to diagnose due to its non-specific clinical features. In this article, we present a case of nosocomial HSE that was responsible for grave consequence. We also explore its causes, outcome, and give recommendations to avoid such fatal occurrence. We stress on strict adherence to the standard precautions and preventive control measures.

Neurological Manifestations of Acute Posterior Multifocal Placoid Pigment Epitheliopathy

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.