We present the case of a patient with leukoencephalopathy with calcifications and cysts (LCC), who experienced progressive severe hemiparesis despite multiple neurosurgical interventions of a large contralateral cyst. Bevacizumab was proposed as an ultimate treatment option based on prior case reports. While awaiting reimbursement approval for bevacizumab, major improvement occurred in both clinical and radiological disease manifestations. The disease course of LCC is variable and unpredictable; neurosurgical treatment should be reserved for severe and progressive neurological deficits. Bevacizumab has been reported as a promising alternative treatment option. Importantly, in our case the observed clinical improvement would have been attributed to the effects of bevacizumab, if started when requested. Our case underscores the need for a natural history study for LCC and the necessity of validating treatment efficacy by systematic evaluation through appropriate clinical trials rather than relying on anecdotal evidence from published case reports.

We describe the case of a 74-year-old man with severe aplastic anaemia who experienced persistent remission attributed to proliferation of HLA allele-deficient clones. Despite an initial worsening of pancytopenia with eltrombopag and ciclosporin treatment, gradual trilineage haematopoietic recovery occurred, with blood counts normalizing over 3 years. Flow cytometry and deep nucleotide sequencing revealed that haematopoiesis was primarily supported by several clones with somatic mutations that inactivated antigen presentation via HLA-A*0206. This suggests that monitoring haematopoietic regeneration by immune escape clones could be an alternative approach for immune aplastic anaemia patients who possess HLA allele-deficient clones and cannot tolerate standard therapy.

Spontaneous remission of Cushing\'s disease (CD) is uncommon and often attributed to pituitary tumor apoplexy. We present a case involving a 14-year-old female who exhibited clinical features of Cushing\'s syndrome. Initial diagnostic tests indicated CD: elevated 24h urinary cortisol (235 µg/24h, n < 90 µg/24h), abnormal 1 mg dexamethasone overnight test (cortisol after 1 mg dex 3.4 µg/dL, n < 1.8 µg/dL), and elevated adrenocorticotropic hormone concentrations (83.5 pg/mL, n 10-60 pg/mL). A pituitary adenoma was suspected, so a nuclear MRI was performed, with findings suggestive of a pituitary microadenoma. The patient was referred for a transsphenoidal resection of the microadenoma. While waiting for surgery, the patient presented to the emergency department with a headache and clinical signs of meningism. A computed axial tomography of the central nervous system was performed, and no structural alterations were found. The symptoms subsided with analgesia. One month later, she presented again to the emergency department with clinical findings of acute adrenal insufficiency (cortisol level of 4.06 µg/dL), and she was noted to have spontaneous biochemical remission associated with the resolution of her symptoms of hypercortisolism. For that reason, spontaneous CD remission induced by pituitary apoplexy (PA) was diagnosed. The patient has been managed conservatively since the diagnosis and remains in clinical and biochemical remission until the present time, after 10 months of follow-up. There are three unique aspects of our case: the early age of onset of symptoms, the spontaneous remission of CD due to PA, which has been rarely reported in the medical literature, and the fact that the patient presented a microadenoma because there are fewer than 10 clinical case reports of PA associated with microadenoma.

OBJECTIVE: To reduce the overuse of magnetic resonance cholangiopancreatography and the rates of non-therapeutic endoscopic retrograde cholangiopancreatography in pediatric patients suspected of choledocholithiasis.
METHODS: Retrospective study of patients suspected of choledocholithiasis between January 2010 and June 2023. Patients with cholangitis or two or more of the following predictive factors of choledocholithiasis in initial laboratory tests and ultrasound were categorized as high-risk group: total bilirubin level ≥ 2 mg/dl, common bile duct > 6 millimeters on ultrasound; and detection of choledocholithiasis by ultrasound. Patients were recategorized according to the results of the second set of laboratory and ultrasound analysis. Confirmatory modalities (magnetic resonance cholangiopancreatography, endoscopic retrograde cholangiopancreatography, and/or intraoperative cholangiography) were used to evaluate the presence of choledocholithiasis. Finally, we assessed the predictive capability of both the initial high-risk group and the group after recategorization.
RESULTS: A total of 129 patients were included. After initial studies, 72 (55.8%) patients were classified into the high-risk group. After recategorization, only 29 (22.5%) patients were included in this group. The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of the initial high-risk group were 89.3%, 53.5%, 34.7%, 94.7%, and 61.2%, respectively, while after recategorization, they were 82.1%, 94.1%, 79.3%, 95.0%, and 91.5%, respectively.
CONCLUSIONS: Recategorization of the risk of choledocholithiasis would significantly improve the diagnostic accuracy of choledocholithiasis and help reduce the overuse of more complex and unnecessary studies/procedures.
OBJECTIVE: Disminuir la sobre indicación de la colangiorresonancia y las tasas de colangiopancreatografía retrógrada endoscópica o terapéuticas en pacientes pediátricos con sospecha de coledocolitiasis.
METHODS: Estudio retrospectivo de pacientes con sospecha de coledocolitiasis entre enero de 2010 y junio de 2023. Los pacientes con colangitis o dos o más de los siguientes factores predictivos de coledocolitiasis en las pruebas de laboratorio y ecografía iniciales, se categorizaron como grupo de alto riesgo: nivel de bilirrubina total ≥ 2 mg/dl, colédoco > 6 milímetros en ecografía; y la detección de coledocolitiasis por ecografía. Los pacientes fueron recategorizados de acuerdo a los resultados del segundo conjunto de análisis de laboratorio y ecografía. Para evaluar la presencia de coledocolitiasis se utilizaron modalidades confirmatorias (colangiorresonancia, colangiopancreatografía retrógrada endoscópica y/o colangiografía intraoperatoria). Finalmente, evaluamos la capacidad predictiva tanto del grupo de alto riesgo inicial como del grupo después de la recategorización.
RESULTS: Se incluyeron 129 pacientes. Luego de los estudios iniciales, 72 (55,8%) pacientes se clasificaron en el grupo de alto riesgo. Luego de la recategorización, solo 29 (22,5%) pacientes fueron incluidos dentro de este grupo. La sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo y precisión diagnóstica del grupo de alto riesgo inicial fueron de 89,3%, 53,5%, 34,7%, 94,7% y 61,2%, mientras que luego de la recategorización fueron de 82,1%, 94,1%, 79,3%, 95,0% y 91,5%, respectivamente.
CONCLUSIONS: La recategorización del riesgo de coledocolitiasis, mejoraría significativamente la precisión diagnóstica de coledocolitiasis y ayudaría a disminuir la sobre indicación de estudios/procedimientos complejos e innecesarios.

UNASSIGNED: Baló\'s concentric sclerosis (BCS) is a rare type of central nervous system demyelinating disorder. Most patients with BCS are treated with corticosteroids, and spontaneous remission has seldom been described.
UNASSIGNED: A 46-year-old man presented with a subacute-onset headache and memory loss. Brain magnetic resonance imaging (MRI) revealed multiple onion-shaped ring lesions with mild enhancement in the outermost ring. A brain biopsy revealed significant myelin loss. The diagnosis of BCS was established based on the MRI results and pathological findings. Interestingly, the patient recovered almost completely without immunotherapy, with repeated brain MRI at the 1-year follow-up showing an obvious reduction in the extent of the lesions.
UNASSIGNED: Neurologists should improve the recognition of the typical MRI features of BCS to avoid unnecessary biopsies. Although rare, spontaneous remission can be observed in clinical practice.

Spontaneous remission (SR) in acute lymphoblastic leukemia (ALL) is a poorly understood phenomenon that has been sporadically reported in medical literature for over a century, and the molecular and immunologic mechanisms of remission pose interesting clinical questions. Furthermore, the often-transient nature of these remissions poses a challenge to physicians in formulating an approach to treatment. We report on a rare case of Candida tropicalis sepsis in a three-year-old female with high-risk ALL who received less than two months of treatment prior to sepsis and subsequent SR.

暂无摘要。

Spontaneous remissions (SRs) in blastic plasmacytoid dendritic cell neoplasms (BPDCNs) are infrequent, poorly documented, and transient. We report a 40-year-old man presenting with bycitopenia and soft tissue infection. The bone marrow exhibited 3% abnormal cells. Immunophenotyping of these cells revealed the antigens CD45+ (dim), CD34+, CD117+, CD123+ (bright), HLA-DR+ (bimodal), CD56+ (bright), CD33+, CD13+, CD2+, and CD22+ (dim) and the partial expression of the CD10+, CD36+, and CD7+ antigens. All other myeloid, monocytic, and lymphoid antigens were negative. Genetic studies showed a complex karyotype and mutations in the TP53R337C and KRASG12D genes. On hospital admission, the patient showed a subcutaneous nodule on the right hand and left lower limb. Flow cytometry multiparameter (FCM) analysis showed the presence of 29% abnormal cells with the previously described immunophenotype. The patient was diagnosed with BPDCN. The patient was treated with broad-spectrum antibiotics for soft tissue infection, which delayed therapy for BPDCN. No steroids or chemotherapeutic or hypomethylating agents were administered. His blood cell counts improved and skin lesions disappeared, until the patient relapsed five months after achieving spontaneous remission. About 60% of abnormal cells were identified. No changes in immunophenotype or the results of genetic studies were observed. The patient underwent a HyperCVAD chemotherapy regimen for six cycles. Consolidation therapy was performed via allogeneic bone marrow transplantation with an HLA-unrelated donor. One year after the bone marrow transplant, the patient died due to the progression of his underlying disease, coinciding with a respiratory infection caused by SARS-CoV-2. In the available literature, SRs are often linked to infections or other stimulators of the immune system, suggesting that powerful immune activation could play a role in controlling the leukemic clone. Nevertheless, the underlying mechanism of this phenomenon is not clearly understood. We hypothesize that the immune system would force the leukemic stem cell (LSC) to undergo a state of quiescence. This loss of replication causes the LSC progeny to die off, resulting in the SR of BPDCN.

UNASSIGNED: Minimal change disease (MCD) is most often primary but may occur secondary to other systemic diseases such as malignancy. In secondary MCD, spontaneous remission of nephrotic syndrome after the treatment of related diseases without steroid therapy is rare.
UNASSIGNED: A 78-year-old man visited the outpatient clinic with foamy urine and generalized edema that had persisted for 2 months. The patient had nephrotic syndrome. Before a kidney biopsy, he underwent several tests to determine the secondary cause of the nephrotic syndrome. The serum CEA was slightly elevated, and colon cancer was detected in the sigmoid colon. MCD was diagnosed from a kidney biopsy. He immediately underwent surgery for colon cancer. Complete remission of the MCD was achieved within 2 weeks after surgery.
UNASSIGNED: Here, we report a rare case of a patient with secondary MCD who successfully achieved spontaneous remission after colon cancer surgery.

IgG4-related disease (IgG4-RD) is a systemic and chronic inflammatory disorder that can affect every part of the body. The formation of tertiary lymphoid tissues (TLT) in the affected organs may be a key phenomenon in understanding the pathogenesis of this disease because T follicular helper (Tfh) 2 cells play an important role in IgG4 class switching within TLT in the affected organs or tissues. TLT formation leads to the formation of masses or swelling of the affected organs. Interleukin (IL)-4 and IL-10 are critical cytokines for IgG4-class switching and are produced in TLT. Other factors, such as CD4-positive (CD4+) cytotoxic T cells, M2 macrophages, and LAG3+ Tfh cells, have been identified as disease-specific contributors to lesion formation. In this review, I describe the current knowledge necessary to understand the pathogenesis of this disease and recent developments in treatment strategies beyond B-cell depletion therapy.