Can IgG4-related disease present as isolated myositis?

IgG4-Related Disease (IgG4-RD)is a chronic fibroinflammatory disease typically characterized by inflammation or tumefaction of the organs involved. Skeletal muscle is not one of the typical organs involved in IgG4-RD. Isolated myositis related to IgG4-RD without common organ involvement such as lacrimal or salivary glands or retroperitoneal fibrosis is a controversial and debatable entity. Here we report a case of inflammatory myopathy in an elderly woman with several atypical clinical, lab, and histopathological findings suggestive of IgG4-related myositis. Two such case reports of IgG4-related myositis were reported in the literature review. This is a third case report of elevated IgG4 positive plasma cell infiltration in muscle with severe endomysial fibrosis and unusual myositis features (Figs. 1 and 2). This case-based review opens a possibility of a novel presentation of IgG4-RD and new pathogenesis in myositis.

Refractory Acquired Amegakaryocytic Thrombocytopenia with Rapid Progression to Aplastic Anaemia in SLE.

Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare cause of thrombocytopenia seen in systemic lupus erythematosus (SLE) that is frequently misdiagnosed as immune thrombocytopenic purpura (ITP). Often patients do not respond to standard ITP treatment. Prompt bone marrow biopsy and further workup should ensue as it is a diagnosis of exclusion. While no standard guidelines exist, the mainstay of treatment is immunosuppressive therapy. Some cases are refractory and should have a follow-up biopsy, typically showing worsening disease. The exact pathogenesis is unclear; multiple mechanisms may be involved, suggesting AAMT may be a syndrome of various aetiologies rather than a distinct pathology. A common complication is aplastic anaemia, and the patient may need a haematopoietic stem cell transplant (HSCT). We present a young man with severe refractory AAMT in the setting of SLE that progressed to aplastic anaemia and required an HSCT. We then discuss and interpret the literature on AAMT.

Multiple cerebral hemorrhages in sepsis-disseminated intravascular coagulation versus septic embolism: An image report.

BACKGROUND: Septic emboli are commonly attributed to infective endocarditis and can present with a variety of symptoms including altered mental status and focal neurological deficits. Here, we reviewed images of septic emboli with hemorrhagic conversion in a patient with sepsis and a psoas abscess. We aim to show the classical image findings in septic embolism to brain, which is sparsely described in literature and the report differentiates the septic embolism from disseminated intravascular coagulation which can present with almost identical image findings. CASE DESCRIPTION: A 53-year-old male patient who was operated on for a right inguinal hernia developed a postoperative wound infection 2 weeks after surgery and was started on IV antibiotics. Despite medical management, his infection did not improve, prompting a computed tomography (CT) scan which revealed a psoas abscess. The abscess was drained, and antibiotics continued. A few days later, he developed altered sensorium prompting a head CT which revealed septic emboli and hemorrhage at the gray-white junction. Cultures grew multidrug-resistant Escherichia coli; the patient was treated with IV tigecycline and improved over the following 4 weeks. CONCLUSION: In patients with a known ongoing infectious process with hemodynamic stability who develop altered mental status in the setting of a normal coagulation profile, D-dimer, positive blood cultures, and absent signs of multiorgan failure, a diagnosis of septic emboli should be entertained. Although CT can reveal macrobleeds, MRI is more sensitive in confirming cerebral microbleeds. Thus, patients in sepsis with unexplained altered sensorium should undergo an MRI of the brain to rule out septic emboli and microbleeds.

Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report.

BACKGROUND: Knobloch syndrome (KS) is a rare autosomal recessive disorder associated with multiple ocular and cranial abnormalities. Occult occipital skull defect or encephalocele should raise suspicion of this disease. It is never reported in neurosurgical literature, possibly due to a lack of clinician familiarity, leading to underdiagnosis and inadequate management. Our patient also had seizures, which is a sporadic presentation of this syndrome. CASE DESCRIPTION: Here, we report a clinico-radiologic finding of a 7-year-old boy who presented with seizures, cataracts, and an occipital bone defect along with bilateral subependymal heterotopias and polymicrogyria. CONCLUSIONS: This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.

Serum Ferritin As a Prognostic Indicator in Adult Dengue Patients.

Dengue virus (DENV) infection is increasing with rapid urbanization in India. Treatment of DENV infection is mainly supportive with no specific antiviral therapy. Although most patients show mild illness, some have a severe disease course such as dengue hemorrhagic syndrome, dengue shock, multi-organ failure, and death. The cause for severity is not fully understood. Currently, there are no methods available to predict the course of the illness. Hence, it is crucial to develop an early biomarker to predict the course of dengue illness which can aid in vigorous monitoring and early intervention. Here, we tried to establish a correlation between serum ferritin and severity of dengue illness. We measured ferritin levels in 100 dengue-positive cases on day 1 (D1) (febrile phase) and day 4 (D4) (defervescence or convalescent) of admissions to compare the levels with the severity of the disease. On D1, the serum ferritin level was a "good" predictor of severe dengue, with an area under the curve (AUC) of 0.863 with standard error (SE) = 0.043 and a 95% CI from 0.778 to 0.947 (P < 0.05). On D4, serum ferritin was an "excellent" predictor of severe dengue, with an AUC of 0.947 with SE = 0.021 and a 95% CI from 0.907 to 0.988 (P < 0.05). Serum ferritin is an inexpensive and easily accessible biomarker that can assist in monitoring and prognosticating the dengue-positive patients. This biomarker also directs us to explore the underlying pathogenetic mechanism in severe dengue, which can lay a foundation for future targeted therapeutic options to combat severe illness.

Lumbosacral extradural extramedullary hematopoiesis in thalassemia major causing spinal canal stenosis.

BACKGROUND: Extramedullary hematopoiesis (EH) is common in patients with ineffective erythropoiesis like thalassemia major (TM). EH commonly involves intra-abdominal organs (e.g., spleen and liver), but rarely involves vertebral bodies. Here, we reviewed images of EH contributing to spinal canal stenosis. CASE DESCRIPTION: A 19-year-old male with beta-thalassemia major (TM) presented with pain and bilateral lower extremity neurogenic claudication. Bilaterally, on examination, he had positive straight leg raising to 30°, a loss of the Achilles responses, and decreased pain appreciation in the L5S1 distributions. The lumbar MR showed anterior epidural lobulated mass lesions at L5 and S1, contributing to marked canal stenosis. Following an L5/S1 laminectomy for decompression, the biopsy revealed extramedullary hematopoietic tissue. CONCLUSION: Patients presenting with the lower extremity symptoms/signs, ranging from low back pain to neurogenic claudication and even paraplegia, may have EH secondary to TM. Treatment options include hypertransfusion, local radiation therapy, and/or surgical decompression.