Journal of investigative medicine high impact case reports最新文献

Here, we present a 33-years-old pregnant female who at 27-weeks gestation developed an unusual rash on her left knee after a spider bite. The rash rapidly became systemic requiring admission and treatment with high-dose steroids. Patient rapidly developed complications of steroid therapy and saw no benefits in reducing the activity of the rash of symptoms of itching. A repeat biopsy showed linear fluorescence along the dermal epidermal junction with C3 (strong) and IgG (weak) suggestive of pemphigus gestationis (PG). After balancing concerns for the health of the mother and risk for disease transmission to the child, we decided to treat the patient with high-dose intravenous immunoglobulin (IVIg). This resulted in rapid remission of disease and delivery of a healthy child without evidence of PG at 36-weeks gestation. A discussion of the mechanism(s) of action of IVIg that were salutary in this case is presented. Importantly, we discuss the likely benefits of IVIg in saturation of the Fc-receptor neonatal IgG recycling and preservation system in accelerating the degradation of pathogenic IgGs and the inhibitory of effects of IVIg on C3 activation which was the predominant immunoreactant in skin biopsy. The patient recovered completely after the fourth monthly IVIg infusion and continues to do well.

Tubulointerstitial nephritis (TIN) is an inflammatory infiltrate of interstitial kidney most commonly caused by infections, drugs, allergies, and a number of autoimmune conditions. In this case, we have a 40-year-old male who was thought to have post-streptococcal glomerulonephritis given his symptoms of sore throat and pharyngitis before having renal involvement; however, after further evaluation was found to have biopsy proven interstitial nephritis without glomerular involvement. We note that TIN has multiple etiologies, and in our patient, we believe the combination of sore throat and pharyngitis attributed to Streptococcus pyogenes and the concomitant nonsteroidal anti-inflammatory drug use and eventual bacterial translocation into the bloodstream, led to all the atypical manifestations described in this study. Although TIN is diagnosed definitively through biopsy, it is not able to reveal the specific causes especially when there are multiple causes suspected simultaneously. Such situations may be challenging to pinpoint a cause therefore it is of utmost importance to keep a broad differential for unexplained acute kidney injury.

Plastic bronchitis is a rare pulmonary condition, most frequently observed in children, that can lead to respiratory failure due to airway obstruction. We present the case of a 50-year-old man with occupational exposure to drywall who experienced recurrent episodes of hypoxic respiratory failure, necessitating multiple intubations. He was initially diagnosed with interstitial lung disease and treated with corticosteroids, but showed minimal clinical improvement. Subsequent flexible bronchoscopy revealed a bronchial cast obstructing the left mainstem bronchus. As plastic bronchitis is typically associated with disorders that cause abnormal lymphatic drainage, thoracic duct embolization was performed. The patient also underwent cryoprobe-assisted bronchoscopy for cast removal. Performance of these 2 procedures led to improved oxygenation and resolution of hypoxic respiratory failure, with no further need for mechanical ventilation.

Hyperammonemia syndrome and posterior reversible encephalopathy syndrome (PRES) are potentially devastating diagnoses in transplant patients. Their underlying etiologies and pathophysiologies remain incompletely understood, and while they are separately well-documented complications in posttransplant patients, they have not been described concurrently. Here we present a case of both hyperammonemia syndrome and PRES causing rapid mental status decline in a 31-year-old bone marrow transplant recipient. The patient had extensive testing to rule out other diagnoses and made a full recovery after correction of her hyperammonemia. Further research is needed to elucidate the underlying mechanisms of these disease processes; however, clinicians should keep both diagnoses in mind when treating transplant patients with acute neurologic changes.

Statin-induced immune-mediated necrotizing myopathy (IMNM) is a rare subtype of idiopathic inflammatory myopathy associated with statin exposure and characterized by positive anti-hydroxymethylglutaryl coenzyme A reductase antibodies. Here, we describe a case of a 66-year-old male who was admitted with the presumed diagnosis of rhabdomyolysis in the setting of chronic statin use but was later confirmed to have statin-induced IMNM after his symptoms were refractory to treatment. This case highlights the importance of having a high clinical suspicion for statin-induced IMNM when statin-associated muscle symptoms fail to resolve after the discontinuation of statins.

I report 2 cases of pleurodesis with 50% dextrose water (DW) in very elderly patients with secondary spontaneous pneumothorax. In both cases, a chest computed tomography scan showed a large pneumothorax with emphysema and multiple bullae. Patients were expected not to tolerate surgical treatment, considering their old age and underlying pulmonary disease. Previously, pleurodesis is performed using other chemical agents. However, chemical pleurodesis can be associated with chest pain, fever, and rarely, respiratory failure. Pleurodesis with 50% DW was performed in 2 patients with resolution of pneumothorax without complications. I recommend that even in elderly patients who could not tolerate surgery or chemical pleurodesis, pleurodesis using 50% DW could be considered because it is relatively safer and effective.

Small cell carcinoma of the esophagus is a rare and aggressive variant of esophageal cancer. We report a case of a 69-year-old female who presented with dysphagia to solid food for 6 months and underwent esophagogastroduodenoscopy, which revealed an ulcerated mass in the proximal esophagus. Biopsy findings were consistent with esophageal small cell cancer. The patient was found to have distant metastasis to the gastric lymph nodes on staging studies. She was treated with chemotherapy, resulting in initial disease resolution, but 4 years later, she presented with metastatic disease to the lungs and brain. This case underscores the need to establish treatment guidelines for this malignancy with a poor prognosis, given the paucity of randomized clinical trials.

Iatrogenic coronary artery obstruction is one of many life-threatening complications associated with aortic valve replacement. Although very few cases of ostial coronary artery occlusion following cardiac surgery are reported, the consequences can be catastrophic due to increased risk of mortality. Due to the rarity, prompt investigation and early management are crucial to manage this catastrophic sequelae. We report a case in which a 61-year-old female presented with acute coronary syndrome 4 months after surgical aortic valve replacement and was found to have 99% left main ostial coronary artery occlusion.

Persistent left superior vena cava is a rare congenital condition, that is, commonly found to be asymptomatic in affected patients. Such pathology can lead to dilatation of the coronary arteries, creating a favorable environment for bacterial growth. We present a case of Granulicatella adiacens bacteremia ultimately leading to renal failure in the setting of an IgA-dominant infection-associated glomerulonephritis. Our case highlights the importance of multimodal imaging for the diagnosis of this unusual vascular anomaly, as well as the management of this atypical etiology of high-grade bacteremia.

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD). In this study, we discuss a 5-year-old male from Palestine who presented with developmental delay, hypotonia, characteristic facial dysmorphisms, impulsive behaviors, inability to speak, cryptorchidism, and other manifestations. This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene (c.1976T>G)(p.Phe659Cys). We also reviewed all previously documented cases and compared the clinical features among them. After reviewing the family pedigree and its suspected cases, we found that the 2 most frequent features among them are intellectual disability and facial dysmorphism, whereas the least frequent one is truncal obesity. We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.