Ischemic stroke as the initial presentation in acute myeloid leukemia vs. myelodysplastic syndrome: a case report and literature review with pathophysiological and clinical exploration.

BACKGROUND: Myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) present intricate challenges due to their diverse clinical manifestations and thrombotic complications. Thromboembolism (TE) incidence in newly diagnosed AML patients is noteworthy, with arterial TE linked to poorer overall survival. Ischemic strokes, although relatively low in prevalence, carry significant clinical implications. CASE DESCRIPTION: We report the case of an 84-year-old male with Type 2 Diabetes, Hypertension, and Chronic Kidney Disease, presenting with seizures, focal neurological deficits, and pancytopenia. An unexpected diagnosis of AML or MDS emerged during the investigation. Despite interventions, the patient's condition deteriorated, leading to a fatal outcome weeks later. CONCLUSION: This case underscores the intricate relationship between hematologic malignancies and ischemic stroke. The rarity of this complication emphasizes the importance of understanding the multifaceted mechanisms at play, including hyperleukocytosis, pro-inflammatory cytokine release, coagulation cascade activation, and direct interactions with endothelial cells. In our literature review, analysis of 15 cases, including ours, revealed a wide age range (3-87 years) and a gender bias towards females. AML diagnosis was predominant, with uniformly low platelet counts. Cortical infarctions, especially in the anterior circulation, were common. Hyperleukocytosis, disseminated intravascular coagulation (DIC), and fatal outcomes were observed in a subset of cases. Despite the grim statistics and often poor prognosis, the identification of specific risk factors, such as thrombocytopenia and cytogenetic abnormalities, offers avenues for targeted prevention and management.

Recurrent Stroke as a First Presentation in Behçet Disease: A Case Report.

Behçet disease (BD) is a multisystemic relapsing autoimmune vascular disorder. It is clinically characterized by recurrent oral ulcers, genital ulcers, eye, and skin manifestations. Development of neurological symptoms in BD cases is rare and occurs several years after the initial diagnosis. We describe a rare case of a 39-year-old Saudi male who presented with isolated neurological manifestations as the first sign of BD. The patient had recurrent strokes, both ischemic and hemorrhagic, over an 11-month period before developing typical BD features. A thorough investigation excluded other potential etiologies of his neurological disorders. Imaging showed multiple brainstem lesions compatible with parenchymal neuro-BD (NBD). The patient was positive for HLA-B51, a genetic marker linked to BD, but had a negative pathergy test. Treatment with corticosteroids and infliximab resulted in symptom improvement. The diagnosis of NBD requires a comprehensive clinical, imaging, and laboratory assessment to rule out other possible causes. This case demonstrates the need to include NBD in the differential diagnosis of young patients with unexplained neurological manifestations, especially if they are followed by an onset of BD features. Treatment with corticosteroids and biologic agents can achieve favorable outcomes. NBD can present with isolated neurological symptoms, emphasizing the need for a high level of suspicion and a multidisciplinary approach for accurate diagnosis and effective management.

Herpes simplex encephalitis with normal brain magnetic resonance imaging and normocellular initial cerebrospinal fluid.

Introduction: Herpes simplex virus (HSV) is associated with one of the lethal diseases, Herpes simplex encephalitis (HSE). Diagnosis is confirmed using MRI and CT scan imaging techniques and more sensitive DNA PCR from cerebrospinal fluid analysis and brain biopsy.Case presentation: However, after four days, the patient's HSE diagnosis was confirmed by the detection of herpes simplex virus type 1 (HSV1) via polymerase chain reaction (PCR) testing. This case highlights the importance of utilizing multiple diagnostic aids and not solely relying on initial test results, as infections may not appear in CSF analysis or MRI scans initially. Furthermore, this case also emphasizes the necessity of initiating empirical treatment based on clinical signs and symptoms, even in cases where diagnostic tests initially appear negative. Prompt and efficient diagnosis and treatment are crucial in managing HSE and preventing long-term neurological damage.Conclusion: This case of HSE underscores the significance of a multifaceted diagnostic approach and timely intervention in managing this potentially severe and life-threatening condition. As mentioned, sometimes the infection does not appear in CSF analysis initially, nor does its effects appear in MRI. HSV PCR remains the golden test to confirm the diagnosis of HSE.

Perampanel-Induced, New-Onset Thrombocytopenia in a Patient With Refractory Seizures: A Case Report.

Perampanel (Fycompa) is a glutamate receptor antagonist known to be a safe, effective, and well-tolerated medication; nevertheless, adverse effects are possible. This case report aims to raise the suspicion of perampanel-induced thrombocytopenia and discuss its possible pathways implicated. Here, we present the case of a 66-year-old female patient with a generalized tonic-clonic seizure initially managed with levetiracetam, valproic acid, and lacosamide; however, the patient continued to have seizures clinically as well as on the electroencephalogram. The patient was initiated on 2 mg of perampanel and reached up to 12 mg within a week, after which the seizure was controlled. Nevertheless, after perampanel initiation, a gradual platelet count reduction was observed. Upon withdrawal of perampanel, the platelet count dramatically improved reaching up to her baseline. Although perampanel is known to be a safe medication, a hematological complication such as thrombocytopenia is possible. The exact mechanism remains unclear. Further studies are required to understand the association between thrombocytopenia and perampanel to identify high-risk populations and prevent this condition sequentially.

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.

Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis. Although there is no curative treatment for this disease, an accurate diagnosis is important to avoid using steroids and immunosuppressive medications, which are not effective and may have several side effects. Further studies are needed to explore potential therapies for this rare condition.