Journal of investigative medicine high impact case reports最新文献

22q11.2 deletion syndrome is a multifaceted disorder most characterized by congenital cardiac anomalies, immunodeficiency, and psychiatric conditions. Endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency are well documented, but hypogonadism remains rarely reported in this patient population. Only 1 case of hypogonadism has been reported in a patient with multiple other comorbidities which may have contributed to the condition. The relationship between 22q11.2 deletion syndrome and hypogonadism is not well understood. We report 2 male patients with 22q11.2 deletion syndrome and low testosterone levels. The first patient was a 25-year-old male with Tetralogy of Fallot and hypoparathyroidism who presented with balanitis and was found to have low testosterone. Evaluation for causes, including pituitary imaging and hormone panels, was unremarkable. The second patient was a 20-year-old male with a history of growth hormone deficiency and hypogonadism, scoliosis, and neurodevelopmental disorders who had low testosterone levels. No identifiable causes were found. Mechanisms include disruptions in the hypothalamic-pituitary-gonadal axis during embryonic development or testicular dysfunction. Impaired function of synaptosomal-associated protein 29, a gene located within the 22q11.2 region, may contribute to testosterone deficiency. The rarity of reported hypogonadism in 22q11.2 deletion syndrome suggests that it may be underdiagnosed due to a lack of routine screening protocols. Further studies evaluating testosterone, LH, and FSH levels in this population are warranted to establish prevalence and determine whether routine endocrine assessment should be incorporated into clinical guidelines.

Anabolic-androgenic steroid (AAS) use is prevalent among noncompetitive bodybuilders, with potential severe vascular complications. While thrombotic events have been reported with AAS use, bilateral acute limb ischemia (ALI) requiring amputation is rare. We present a case of bilateral limb ischemia, in a young adult who use AAS. Our patient is a 40-year-old male, a bodybuilder with a 4-year history of cyclic AAS use, who presented with bilateral leg pain and burning sensations from the knees to the feet. CT angiography revealed multiple embolic occlusions in both lower extremities, with no other identifiable risk factors for ALI. Management included intravenous heparin therapy and 3 attempts at right leg revascularization through percutaneous angioplasty, mechanical thrombectomy, and pharmacologic thrombolysis. After failed revascularization and subsequent rhabdomyolysis, right below-knee amputation was required. Amputation was successful, and the patient underwent rehabilitation with no complications. This case highlights AAS use as a potential cause of severe vascular complications in young patients. When traditional risk factors for ALI are absent, clinicians should screen for the use of AAS. Early recognition and intervention may prevent limb loss in this population.

Methimazole is commonly prescribed for patients with hyperthyroidism. It typically exhibits a well-tolerated profile, with common side effects including gastrointestinal disorders and rash. However, more serious rare yet adverse reactions, notably agranulocytosis and hepatotoxicity have been documented in literature. Here we present a case of a 27-year-old female, recently diagnosed with Graves' disease, who was prescribed methimazole and developed severe pruritus with cholestatic jaundice 13 days later. Concomitant causes of liver disease were ruled out. The treatment was discontinued, and a switch to corticosteroid therapy with a regimen of radioactive iodine sessions was initiated. The patient's condition showed a resolution of pruritus and jaundice, a disappearance of cytolysis with an aggravation of cholestasis followed by a gradual decrease, leading to the liver function normalization after 2 years. Methimazole-induced cholestatic jaundice is a rare yet severe adverse effect. Patients should be aware of this complication and advised to immediately stop taking the treatment when suggestive symptoms (pruritus, jaundice, dark urine, light-colored stool) occur.

Cystic fibrosis (CF) is a genetic disorder typically diagnosed in early childhood, caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, leading to thick mucus accumulation in the lungs, pancreas, and other organs. While most diagnoses occur in childhood, a growing number of cases are being identified in adulthood, presenting unique challenges for recognition and management. This case highlights a 37-year-old patient diagnosed with CF after presenting with chronic respiratory symptoms, and weight loss. Late diagnosis of CF remains rare but can delay appropriate treatment, potentially impacting long-term outcomes.

Takayasu's arteritis (TAK) is a rare, large-vessel vasculitis that typically involves the aorta and its major branches. Patients may experience coronary involvement, most commonly the left main coronary ostia. Patients with coronary artery occlusion often require emergent revascularization; however, there is debate regarding the optimal timing and type of surgical intervention in the setting of TAK. Herein we describe a 32-year-old female presenting with non-ST elevation myocardial infarction (NSTEMI) who underwent percutaneous intervention (PCI) with drug-eluting stent (DES) placement and was subsequently diagnosed with TAK. A 32-year-old female presented to the emergency department with chest pressure and dyspnea. Her electrocardiogram findings and troponin elevation were consistent with NSTEMI and she underwent coronary angiography with DES placement. During angiography, aortic insufficiency was noted. Transesophageal echocardiogram confirmed intimal thickening of the aortic root with aortic regurgitation. She was diagnosed with TAK, started on high-dose steroids, and transferred to a tertiary care center for rheumatology consultation. This patient's clinical course raised several questions regarding surgical intervention in TAK. The optimal timing of surgery and preferred approach (endovascular intervention vs coronary artery bypass grafting [CABG]) were specifically critiqued. While endovascular intervention (PCI with angioplasty or stent) is typically less invasive than CABG, it may be associated with a higher risk of postsurgical re-stenosis and studies are conflicting regarding the optimal approach. Further research is necessary to determine the long-term efficacy and safety of these interventions, as well as their timing in the overall management plan.

Mature plasmacytoid dendritic cell proliferation (MPDCP) is a rare, clonal but nonmalignant entity often associated with myeloid neoplasms such as chronic myelomonocytic leukemia (CMML), myelodysplastic syndromes, and acute myeloid leukemia. While typically confined to the bone marrow, nodal MPDCP is exceedingly rare and may mimic blastic plasmacytoid dendritic cell neoplasm (BPDCN), posing diagnostic challenges. We report a 78-year-old male with CMML-1 and progressive cervical lymphadenopathy. Workup revealed monocytosis, ASXL1 and CBL mutations, and CMML. Lymph node biopsy showed paracortical expansion by small mononuclear cells with plasmacytoid features. Immunophenotyping identified a CD4+, CD123+, CD303+, HLA-DR+, lysozyme+, CD56- population, consistent with MPDCP. A subset expressed TdT and granzyme B, with a Ki-67 index of 20% to 30%. Next-generation sequencing confirmed the same ASXL1 and CBL mutations in the lymph node, supporting clonal relation to CMML. Key differential diagnoses included BPDCN, T-cell lymphomas, Langerhans cell histiocytosis, and Kikuchi-Fujimoto disease. Absence of CD56, mature cytomorphology, and molecular concordance favored MPDCP. This case highlights the importance of distinguishing nodal MPDCP from malignant mimics. MPDCP may reflect immune evasion, altered cytokine signaling, or clonal progression in myeloid neoplasms. The patient was initially treated with hydroxyurea, later transitioned to decitabine/cedazuridine (Inqovi) for disease progression. Follow-up marrow biopsy showed stable CMML-2 with persistent mutations, and the patient remains under close monitoring. Recognizing MPDCP in unusual locations is critical for accurate diagnosis and prognostication. Further studies are warranted to clarify its molecular pathogenesis and potential as a biomarker of disease evolution in CMML and related disorders.

Recurrent deep vein thrombosis (DVT) is a common complication, particularly in cancer patients. We present a case of a 50-year-old male with a history of a previous DVT. Despite therapeutic anticoagulation with apixaban, the patient developed recurrent DVT involving the common femoral, popliteal, and foreleg veins. He was started on a heparin drip in the hospital, but despite this, his DVT worsened. Imaging studies revealed mediastinal and hilar lymphadenopathy, raising suspicion of malignancy. The workup revealed elevated tumor markers, while the thrombophilia panel was unremarkable. Despite aggressive management, including mechanical thrombectomy, catheter-directed thrombolysis, and the placement of an inferior vena cava filter, the patient's condition continued to deteriorate. A biopsy of the mediastinal lymph nodes revealed poorly differentiated mucinous adenocarcinoma with molecular analysis consistent with hepatobiliary origin, and the patient was diagnosed with stage IVB gallbladder cancer. Given the rarity of gallbladder cancer and its association with hypercoagulability, this case highlights the importance of considering cancer as an underlying cause of recurrent DVT after ruling out common causes. Early recognition and a comprehensive diagnostic approach are essential for managing such cases. The patient was started on chemotherapy while maintaining anticoagulation for recurrent DVT.

Sarcoidosis is a systemic granulomatous disease that predominantly affects the lungs. However, its presentation as a giant pulmonary bulla is exceptionally rare. Its association with COVID-19 has raised new concerns regarding disease exacerbation and misdiagnosis. We report a case of a 38-year-old man who developed a large left lower lobe bulla in the context of recent COVID-19 infection. Initial misinterpretation of the bulla as loculated pneumothorax nearly led to an unnecessary chest tube placement. A subsequent thoracotomy with lobectomy revealed nonnecrotizing granulomas, confirming sarcoidosis. The patient showed spontaneous remission without requiring treatment. This case highlights the importance of multidisciplinary discussions in atypical lung presentations to prevent mismanagement.

The diverse group of neurodegenerative disorders known as hereditary spastic paraplegia (HSP) is characterized by spasticity and weakness of the bilateral lower extremity due to degeneration of the corticospinal tract. The pathogenesis of HSP is broad, with autosomal dominant, autosomal recessive, X-linked recessive, mitochondrial inheritance, and de novo mutations reported, along with remarkable heterogeneity of mutations and clinical presentation. Of these, the most common subtype of HSP is HSP type 4 (HSP-SPG4), a result of mutations in the SPAST gene (chromosome 2p22.3) that leads to impaired activity of the microtubule-severing protein spastin. Typically presenting as an uncomplicated, autosomal dominant form of the disease, HSP-SPG4 has been documented worldwide with vast genomic variance across the SPAST gene. Despite common features in clinical phenotypes, a clear link between SPAST gene variants and disease presentation remains vague. Here, we report a novel 26.1 kb deletion in the SPAST gene (del exons 4-7) in a US family with previously undiagnosed HSP-SPG4.

Saccharomyces cerevisiae, commonly known as Baker's yeast, has been used in breadmaking, winemaking, and beer brewing for centuries. Although not generally regarded as pathogenic, rare cases of invasive infections have occurred in patients predisposed by critical illness, immunosuppression, or prolonged antibiotic use. Using data collected from the electronic medical record and personal interactions with the patient, we present a case of complicated S cerevisiae urinary tract infection (UTI). We searched terms (and permutations of terms) including Saccharomyces cerevisiae, Baker's or Brewer's yeast, and urinary tract infection using PubMed to identify previously published evidence of invasive S cerevisiae infections. Our patient is a 30-year-old woman with a history of rheumatoid arthritis on methotrexate, and previous admission for Candida glabrata UTI requiring intravenous antifungal therapies, who presented to her gynecologist with complaints of vaginitis and flank pain. Vaginal and urine cultures grew S cerevisiae, and the patient was diagnosed with pyelonephritis and admitted for treatment. A further review of the patient's history revealed daily exposure to S cerevisiae through baking sourdough bread. She was treated with 7 days of IV amphotericin deoxycholate and discharged on a 6-month course of suppressive oteseconazole for vulvovaginitis suppression. Saccharomyces cerevisiae is an exceedingly rare cause of invasive fungal UTI, with our literature review identifying only a few case reports of associated UTI and fungemia, all related to probiotic use. Our case emphasizes the importance of careful history taking and early diagnostic cultures in those at risk of invasive fungal infections.