Oxford Medical Case Reports最新文献

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome caused by mutations in the NF1 gene encoding neurofibromin, leading to an increased risk of benign and malignant tumors, including pheochromocytomas and rare cancers such as cholangiocarcinoma (CCA). We report a novel case of a 45-year-old NF1 patient who underwent adrenalectomy for pheochromocytoma at age 30 and was later diagnosed with CCA during evaluation for chest pain. Imaging revealed hepatic lesions confirmed by biopsy and molecular analysis showing an IDH1 mutation, providing a potential therapeutic target. This metachronous presentation of two rare tumors in an NF1 patient is exceptionally uncommon and has not been previously documented in the literature. The patient was treated with combined chemotherapy and immunotherapy, showing stable disease at three-month follow-up. This case highlights the importance of vigilant long-term surveillance in NF1 patients and the role of molecular profiling in guiding personalized therapeutic strategies.

We report a rare case of Insulin Autoimmune Syndrome in a 35-year-old woman with prior autoimmune features who developed hypoglycemia after an allergic reaction. Diagnosis was confirmed by insulin autoantibodies. Immunosuppressive therapy yielded significant improvement. This case suggests a broader autoimmune process may underlie seemingly isolated IAS presentations.

Varicella (chickenpox) caused by varicella zoster virus is usually diagnosed clinically based on the typical presentation of fever and vesicular rash in immunocompetent children. However, atypical sites of the rash or non-cutaneous suppurative complications can cause a diagnostic dilemma. We report a tubo-ovarian abscess as an initial presentation of chickenpox in a 12-year-old female, a novel and unrecognized presentation of varicella in childhood. Unlike previously reported cases with varicella associated abscess that treated by intravenous antibiotics and surgical drainage, the current patient did not receive any medical or surgical therapy and spontaneous resolution of the abscess radiologically confirmed on serial follow up with imaging.

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML); it has a high response rate and long-term survival with differentiation therapy and chemotherapy. However, only one previous case of APL with double minute chromosomes (DMs, a poor prognostic factor for AML) has been reported. We report the case of a patient with APL and DMs. A 44-year-old woman was treated with all-trans retinoic acid (ATRA) and chemotherapy and achieved molecular complete remission (mCR). However, the condition relapsed after 15 months. She was treated with arsenic trioxide and autologous transplantation and experienced mCR. Her peripheral blood was positive for minimal residual disease (MRD) 2 months after autologous transplantation. She became MRD-negative with ATRA and has maintained the negative status for 15 months. This is the first report to suggest that patients with APL and DMs may be a high-risk group for relapse and benefit from maintaining with ATRA.

Alveolar rhabdomyosarcoma (ARMS) is the most aggressive subtype of rhabdomyosarcoma. Prognosis is closely linked to anatomical location, with parameningeal involvement and distant metastasis being associated with poorer outcomes. Diagnosis is challenging and requires immunohistochemistry, RT-PCR, and FISH. We report the case of a 17-year-old Peruvian male diagnosed with ARMS who presented with multiple adverse prognostic features, including parameningeal-paranasal disease, orbital invasion, distant metastasis, and PAX3-FOXO1 fusion. The clinical trajectory rapidly progressed and the patient succumbed. This case highlights not only the biological aggressiveness of ARMS, but also the systemic delays in diagnosis that may occur in resource-limited settings. Its educational value lies in raising awareness about diagnostic inequity in pediatric oncology and emphasizing the need for early suspicion and timely referral in atypical clinical presentations.

Bartter Syndrome (BS) is a genetic disorder affecting the renal tubules, leading to elevated levels of renin, angiotensin, and aldosterone, along with metabolic alkalosis, while maintaining normal blood pressure. It is also associated with laboratory abnormalities such as hypocalcemia, hypokalemia, hypomagnesemia, and hyponatremia, which may result in neurological complications including seizures and loss of consciousness. These findings necessitate consideration of important differential diagnoses such as Gitelman syndrome and cystic fibrosis, underscoring the importance of confirming the diagnosis of this serious condition, giving it appropriate attention, and initiating early treatment to prevent advanced complications. We report the case of a 36-year-old Jordanian male with a medical history of Bartter Syndrome and chronic kidney disease, who presented to the emergency department in a coma with generalized seizures due to severe electrolyte imbalances. His condition was further complicated by a genetic predisposition and a family history of Bartter Syndrome, with genetic testing confirming mutations in the CLCNKB gene. This rare case of Bartter Syndrome type III, in which the patient progressed to the stage of hemodialysis, illustrates the complexities of diagnosis and management, and emphasizes the importance of continuous care and regular follow-up.

Multisystem Langerhans cell histiocytosis (MS-LCH) is exceedingly rare in very young children and can present with predominant lung involvement. We report a 2-year-old boy who presented with prolonged fever, cough, and acute respiratory distress. Chest imaging revealed recurrent bilateral pneumothoraces requiring multiple chest drains; high-resolution computed tomography showed diffuse bilateral thin-walled lung cysts. Thoracoscopic lung biopsy with immunohistochemistry (CD1a+, CD45+, S100+) confirmed Langerhans cell histiocytosis. Given the strong association between pediatric pulmonary LCH and multisystem disease, a whole-body FDG-PET/CT was performed, revealing hepatic and splenic involvement and confirming a diagnosis of MS-LCH. Systemic chemotherapy with vinblastine and corticosteroids led to clinical improvement. We also review nine similar pediatric cases reported in the literature, highlighting the importance of recognizing pulmonary findings as a gateway to diagnosing underlying multisystem LCH.

Background: Plasminogen deficiency is an ultra-rare autosomal recessive disorder characterized by impaired fibrinolysis and the formation of fibrin-rich pseudomembranes. Ligneous conjunctivitis is the most common manifestation, whereas central nervous system involvement, such as hydrocephalus, is rare. Early recognition is essential to prevent irreversible complications.

Case presentation: We report a 3-year-old girl with progressive macrocephaly, antenatal hydrocephalus, and persistent pseudomembranous conjunctivitis. Imaging showed fused lateral ventricles and agenesis of the corpus callosum, consistent with obstructive hydrocephalus requiring multiple ventriculoperitoneal shunt revisions. Genetic testing confirmed type I plasminogen deficiency with a homozygous PLG mutation. Recombinant plasminogen was unavailable, and she was managed with fresh frozen plasma (FFP) infusions plus ophthalmic and anticonvulsant therapy.

Outcome: Regular FFP stabilized her ocular and neurological condition, though recurrent shunt complications necessitated repeated hospitalizations.

Conclusion: This case illustrates the diagnostic challenges of type I plasminogen deficiency and highlights FFP as a practical therapeutic option in resource-limited settings.

Garré's chronic sclerosing osteomyelitis is a rare, nonsuppurative form of chronic osteomyelitis, typically seen in children and adolescents, and characterized by periosteal bone proliferation. This case report presents an unusual manifestation in a 20-year-old male with recurrent swelling of the left cheek and trismus, in whom imaging and clinical evolution supported the diagnosis. The management approach and follow-up imaging are discussed, and the case is contextualized within the existing literature.