Rapid Improvement in Guillain-Barré Syndrome With Demyelinating and Secondary Axonal Involvement: A Case Report.

Guillain-Barré syndrome (GBS) is a major cause of acute neuropathy worldwide. The accurate classification of GBS subtypes is essential for diagnosis and prognosis, with acute inflammatory demyelinating polyneuropathy generally linked to more favorable outcomes. This case report examines a 65-year-old Sudanese man who experienced a six-day progression of symmetrical lower limb weakness and numbness, which rapidly escalated to significant motor impairment. Clinical evaluations and diagnostic tests identified primary demyelinating polyradiculoneuropathy with secondary axonal damage. Despite severe initial weakness and hypoxia, the patient showed significant recovery. Follow-up assessments confirmed full motor recovery and independent mobility. This case report aims to fill the gap in local data and provide valuable insights into the clinical features and outcomes of GBS in the Saudi Arabian context.

A case of ocular flutter associated with sole anti-sulphatide antibody positivity: successful treatment with intravenous immunoglobulin in a pediatric patient.

BACKGROUND: Ocular flutter is a neurological disorder characterized by irregular, rapid horizontal eye movements and is often associated with autoimmune diseases, infections, drug intoxication, or paraneoplastic syndromes. The brain regions involved in ocular flutter have not been definitively determined. Sulfatide is an acidic glycolipid crucial for maintaining myelin sheath integrity and neuronal transmission. Antibodies against sulfatide can disrupt neuronal signals, and their formation is linked to autoimmune conditions such as Guillain-Barré syndrome and GALOP syndrome. To our knowledge, no pediatric cases of ocular flutter associated with sulfatide antibody-positive neuropathy have been reported. CASE DESCRIPTION: A 15-year-old male with no medical history presented with oscillopsia and blurred vision. His prenatal, natal, and developmental history were unremarkable. Neurological examination revealed rapid, low-amplitude horizontal saccadic oscillations (ocular flutter) with no other neurological abnormalities. Extensive testing, including MRI of the brain and spine; blood tests; lumbar puncture; and screenings for viral, bacterial, and autoimmune conditions, returned normal or negative results. A high titer of anti-sulfatide IgM antibodies was detected. The patient was treated with intravenous immunoglobulin (IVIG), which led to complete resolution of ocular flutter. At the 3-month follow-up, his neurological examination was normal, and he remained asymptomatic with monthly IVIG infusions. CONCLUSION: This is the first reported case of ocular flutter associated solely with anti-sulfatide antibody positivity. This finding underscores the importance of considering sulfatide antibody testing in atypical or treatment-resistant cases of ocular flutter. The resolution of symptoms following IVIG treatment suggests its potential effectiveness in managing sulfatide antibody-positive conditions. Further research is needed to explore the role of sulfatide antibodies in ocular flutter and the benefits of targeted immunotherapy.

Case report: Successful treatment of intestinal leiomyositis in a dog using adjunctive intravenous immunoglobulin.

A 10-year-old spayed female Dachshund presented with abdominal pain and generalized severe ileus. An exploratory laparotomy was performed, confirming a severe ileus of undetermined origin. Multiple intestinal biopsy results confirmed acute intestinal leiomyositis. Immunohistochemistry (IHC) stains confirmed a T-cell predominant inflammatory infiltrate. Intravenous immunoglobulin (hIVIG) was administered prior to immunosuppressive therapy. Within 10 days of hIVIG treatment, functional peristaltic activity returned, and symptoms resolved. Long-term management, including the use of mycophenolate, resulted in sustained functional peristaltic recovery. Further studies are needed to explore the potential benefits of hIVIG treatment in the stabilization phase of this commonly fatal, treatment-refractory disease.

Successful Maintenance Therapy with Intravenous Immunoglobulin to Reduce Relapse Attacks and Steroid Dose in a Patient with Refractory Myelin Oligodendrocyte Glycoprotein Antibody-positive Optic Neuritis.

A 25-year-old Japanese man developed visual disturbance with eye pain and was diagnosed with optic neuritis associated with anti-myelin oligodendrocyte glycoprotein antibodies. His symptoms improved temporarily after steroid therapy but chronically relapsed many times after tapering the steroid dose. He became highly steroid-dependent and was referred to our department for reconsideration of the treatment strategy. Maintenance intravenous immunoglobulin (IVIg) therapy successfully decreased the annual recurrence rate from 1.15 to 0.27 times/year and the maintenance dose of oral prednisolone from 35 to 5 mg/day. Maintenance IVIg therapy is a promising option for preventing disease relapse in such cases.

Idiopathic Thrombocytopenic Purpura (ITP) Complicated by a Hemorrhagic Ovarian Cyst and Hemoperitoneum: A Case Report.

Idiopathic thrombocytopenic purpura (ITP) is characterized by a persistently low platelet count, which can lead to serious bleeding such as gastritis and hemorrhagic stroke. The formation of auto-antibodies in ITP leads to increased destruction of platelets and then hampers hematopoiesis. Corticosteroids and intravenous immunoglobulin are among the common treatments used for ITP, but they have significant side effects. This is a case report of a 27-year-old woman with ITP who was found to be anemic, thrombocytopenic, and had a ruptured ovarian cyst after the initial romiplostim therapy. The patient benefited from fluid resuscitation, blood transfusion, and corticosteroid therapy; then, the patient's condition improved. This case highlights the complications associated with managing ITP, emphasizing the importance of personalizing therapy regimens through regular monitoring to improve the balance of benefits and risk, resulting in a comprehensive treatment for chronic patients suffering from ITP.

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.

Primary immunodeficiencies are disorders of the immune system often caused by mutations of genes required for lymphocyte development. Phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene mutations are associated with SHORT syndrome, a rare multisystem disease. The name stands for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. Our case describes a child who presented with agammaglobulinemia with phenotypical features of SHORT syndrome. Upon further investigation, he was found to have a rare variant of the PIK3R1 gene mutation. This new mutation combines two distinct diseases with the same gene defect, which otherwise has been reported as two separate entities. The objective of this report is to identify a new gene mutation associated with SHORT syndrome along with agammaglobulinemia and to highlight the importance of recognizing the features of SHORT syndrome. We describe a nine-year-old male who presented with developmental delay and recurrent infections at the age of 12 months. Immunological evaluation revealed agammaglobulinemia and he has been scheduled for regular intravenous immunoglobulin replacement therapy. In view of characteristic syndromic physical features, speech and teething delay, we investigated further for the underlying genetic reason for agammaglobulinemia. The molecular analysis demonstrated a rare homozygous variant, c.244dup, in the PIK3R1 gene. This case reveals the association of the PIK3R1 gene mutation with agammaglobulinemia and SHORT syndrome. It further demonstrates the discovery of a new pathological variant of the gene. A detailed history and examination along with an immunological and genetic workup should be carried out for children with certain distinct phenotypical features. SHORT syndrome has specific characteristics that call for awareness and early recognition for prompt diagnosis and intervention. Emphasis is placed on genetic counseling as the disease is inherited in an autosomal recessive pattern, as demonstrated by molecular genetic studies.

Subacute Cutaneous Lupus Erythematosus Secondary to Intravenous Immunoglobulin Infusions.

Subacute cutaneous lupus erythematosus (SCLE) is a variant of cutaneous lupus erythematosus (CLE) characterized by distinct skin lesions. Clinical manifestations typically include annular or psoriasiform skin lesions, often localized in sun-exposed areas such as the chest and back. The pathogenesis of SCLE is largely unknown, and contributing factors include genetics, environmental exposures, and immunological dysregulation. SCLE may be idiopathic or drug-induced, with common triggers being calcium channel blockers, thiazide diuretics, and terbinafine. Intravenous immunoglobulin (IVIG) treatment, frequently used in various autoimmune conditions, has a rare association with SCLE. We report a case in which this condition arose during IVIG treatment for chronic inflammatory demyelinating polyneuropathy (CIDP). Knowledge of this rare effect is beneficial to all providers who prescribe IVIG, including neurology, rheumatology, and dermatology.

Going Outside the Gut: Immune Thrombocytopenia Presenting as a Rare Extraintestinal Manifestation of Ulcerative Colitis.

A 26-year-old male with no significant medical history presented with hematochezia and was diagnosed with ulcerative colitis (UC) accompanied by immune thrombocytopenia (ITP) as an extraintestinal manifestation (EIM) of UC. This case report delves into the uncommon overlap between UC, a subtype of inflammatory bowel disease primarily affecting the colon and rectum, and ITP, an autoimmune condition leading to platelet destruction. The patient's atypical presentation and subsequent positive response to a treatment regimen targeting both UC and ITP underscores the necessity for a thorough and multifaceted diagnostic approach in individuals with UC, especially when faced with non-gastrointestinal symptoms like unexplained thrombocytopenia. The findings from this study enhance the understanding of UC's diverse manifestations and highlight its potential intersection with other autoimmune diseases, advocating for integrated care strategies in managing such intricate clinical cases.

A Unique Case of Non-paraneoplastic Lambert-Eaton Myasthenic Syndrome Treated With Subcutaneous Immunoglobulin: A Case Report and Review of Literature.

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune neuromuscular disorder caused by pathogenic autoantibodies directed against voltage-gated calcium channels present on the presynaptic nerve terminal. For LEMS patients refractory to initial symptomatic treatment with amifampridine, immunomodulatory therapy with intravenous immunoglobulin (IVIG) is often utilized. However, in the authors' review of literature, the utility of subcutaneous immunoglobulin (SCIG) in the treatment of LEMS has been scarcely reported. Here, we present a unique case of non-paraneoplastic LEMS managed with SCIG with excellent clinical response and improvement on electromyography. SCIG therapy may be a reasonable alternative for patients with LEMS who do not tolerate the intravenous formulation.

Baseline immunoglobulin G and immune function in non-Hodgkin lymphoma: a retrospective analysis.

Introduction: Non-Hodgkin's lymphoma (NHL) encompasses a diverse group of lymphoma subtypes with a wide range in disease course. Previous studies show that hypogammaglobulinemia in treatment-naïve patients is associated with poorer survival in high grade B-cell non-Hodgkin's lymphomas, though it is not known how this applies across all B-cell lymphoid malignancies. Methods: We conducted a retrospective study of immunoglobulin levels and clinical outcomes including survival, hospitalization, and infection rates in patients diagnosed with B-cell non-Hodgkin lymphomas of all grades at our institution. Results: Two-hundred twenty-three adults (aged = 18 years) with available pre-treatment IgG levels were selected, with hypogammaglobulinemia defined as IgG< 500 mg/mL. For this analysis, we grouped DLBCL (n=90), Primary CNS (n=5), and Burkitt lymphoma (n=1) together as high-grade, while CLL (n=52), mantle cell (n=20), marginal zone (n=25), follicular (n=21), and Waldenstrom macroglobulinemia (n=5) were low-grade. The incidence of hypogammaglobulinemia in our cohort of both high and low-grade lymphoma patients was 13.5% (n=30). Across all NHL subtypes, individuals with baseline IgG< 500 mg/dL showed an increased rate of hospitalization (4.453, CI: 1.955-10.54, p= 0.0005) and higher mortality (3.325, CI: 1.258, 8.491, p= 0.013), yet no association in number of infections when compared with those with IgG=500 mg/dL. There was a higher hospitalization rate (3.237, CI: 1.77-6.051, p=0.0017) in those with high-grade lymphoma with hypogammaglobulinemia when compared with low-grade. There was no statistically significant difference in individuals who were alive after three years in those with baseline IgG<500 mg/dL. Discussion: Our study is the first to analyze incidence of hypogammaglobulinemia at the time of diagnosis of NHL as a potential biomarker of interest for future outcomes including hospitalization and infection.