The American Journal of Case Reports最新文献

{"title":"An Infant Presenting with Interstitial Lung Disease Diagnosed Later as Hunter Syndrome: A Case Report.","authors":"Basil AlTami,&nbsp;Hamza AlKelabi,&nbsp;Mansour Mohammed Al-Qwaiee","doi":"10.12659/AJCR.937527","DOIUrl":"https://doi.org/10.12659/AJCR.937527","url":null,"abstract":"<p><p>BACKGROUND Hunter syndrome is a multisystem metabolic inherited disease belonging to the large group of mucopolysaccharidoses (MPSs). Hunter syndrome is also known as MPS type II. Its association with respiratory symptoms has been well documented in the literature; however, it is uncommon that these patients initially present with diffuse lung disease and respiratory failure. Diffuse lung disease has a wide range of differential diagnoses that can overlap in some clinical and radiological aspects, making physicians struggle to quickly reach a final diagnosis. CASE REPORT We report a case of a full-term male infant who presented postnatally with progressive respiratory distress, hypoxemia, and radiologically-demonstrated ground-glass opacity and pneumothorax requiring mechanical ventilation and an extensive workup including CT scan of the chest, a flexible and rigid bronchoscopic examination of the airway with bronchoalveolar lavage, and whole-exome sequencing, which eventually resulted in a diagnosis of Hunter syndrome. After enzyme therapy was initiated, the patient showed marked improvement in clinical status and biological and imaging data and was weaned off oxygen a few months later. CONCLUSIONS The diagnostic approach for patients with diffuse lung disease is challenging and requires centers with expertise to reach a final diagnosis, especially in the presence of an unusual clinical presentation. The choice of the diagnostic approach can be influenced by factors such as the patient's critical condition, clinical presentation, imaging data, genetic analysis, and family decision.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937527"},"PeriodicalIF":1.2,"publicationDate":"2022-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/60/2c/amjcaserep-23-e937527.PMC9641547.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40466460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Injury to the Posterior Horn of the Lateral Meniscus from a Misplaced Tibial Tunnel for Anterior Cruciate Ligament Reconstruction: A Case Report.","authors":"Amar S Vadhera,&nbsp;Jonathan S Lee,&nbsp;Harsh Singh,&nbsp;Safa Gursoy,&nbsp;Kyle N Kunze,&nbsp;Nikhil N Verma,&nbsp;Jorge Chahla","doi":"10.12659/AJCR.937581","DOIUrl":"https://doi.org/10.12659/AJCR.937581","url":null,"abstract":"<p><p>BACKGROUND Posterior meniscal root avulsions can cause meniscal extrusion, joint space narrowing, and progressive knee arthritis. Iatrogenic posterior meniscal root avulsions after malpositioning of the transtibial tunnels during anterior cruciate ligament (ACL) reconstruction can account for poor long-term outcomes seen in some patients following ACL reconstruction. Therefore, correct transtibial tunnel placement during ACL reconstruction is essential to avoid iatrogenic meniscal damage. CASE REPORT A 32-year-old man presented with 1 year of right knee pain and instability following a non-contact twisting injury sustained while playing soccer. An ACL tear with no meniscal involvement was diagnosed at an outside institution. A double-bundle reconstruction was performed at that time. Three months after surgery, a medial partial meniscectomy was performed after a medial meniscal tear and failure to reduce initial symptoms during the index procedure. Advanced imaging at our institution 6 months later demonstrated an iatrogenic lateral posterior meniscal root avulsions after malpositioning of the transtibial tunnels. Given the ACL graft integrity upon arthroscopic evaluation, the root tear was repaired using a 2-tunnel transtibial pull-out technique. Advanced imaging 1 year after surgery showed a well-maintained meniscal repair with no extrusion. CONCLUSIONS Accurate transtibial tunnel placement during ACL reconstructive surgery is vital to avoid meniscal root detachment and the associated complications resulting in poor patient outcomes from this iatrogenic injury. Clinicians treating patients with a history of cruciate ligament reconstruction presenting with postoperative pain and instability should consider this pathology in their differential diagnosis.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937581"},"PeriodicalIF":1.2,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/03/1d/amjcaserep-23-e937581.PMC9641552.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40663967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spontaneous Oropharyngeal Hemorrhage Complicated by Cirrhosis, Resulting in Hemorrhagic Shock.","authors":"Dung V Nguyen,&nbsp;Dena H Tran,&nbsp;Kathryn G Champ,&nbsp;Swetha Vutukuri,&nbsp;Avelino Verceles","doi":"10.12659/AJCR.937582","DOIUrl":"https://doi.org/10.12659/AJCR.937582","url":null,"abstract":"<p><p>BACKGROUND Spontaneous oropharyngeal hemorrhage is rare and is often associated with other predisposing factors. This can result in hemodynamic instability in the presence of other bleeding sources. It is oftentimes difficult to diagnose due to its limitations to visual inspection of the oropharyngeal structures. It is commonly mistaken for hemoptysis or hematemesis upon initial evaluation. Trauma, infection, pulmonary pathologies (ie, lung cancer or tuberculosis), gastrointestinal pathologies (ie, esophageal/gastric varices, Mallory-Weiss tears, esophagitis), coagulopathies, medications, and prolonged intubation have been shown to increase the risk of oropharyngeal hemorrhage. CASE REPORT A 54-year-old man with a medical history of alcohol use disorder, liver cirrhosis, portal hypertension, and gastric varices presented with altered mental status. He was subsequently intubated for airway protection. Bleeding from the oropharynx was later found. Esophagogastroduodenoscopy (EGD) and bronchoscopy were unrevealing. Computed tomography angiography (CTA) of the head and neck revealed active bleeding of the right posterior pharyngeal artery, which was emergently embolized. Over the next few days, he continued to bleed from the oropharynx and became hemodynamically unstable. CTA abdomen showed bleeding from gastric varices and large-volume hemoperitoneum with multiple sources of active bleeding from the liver, duodenum, and jejunum. CONCLUSIONS We present a rare case of spontaneous oropharyngeal hemorrhage and gastric variceal bleeding resulting in hemorrhagic shock in a cirrhotic patient with multiple predisposing factors. If a patient presents with spontaneous oropharyngeal hemorrhage, clinicians should consider bleeding from the oropharynx if EGD and bronchoscopy are unrevealing. Thus, an emergent CTA of the head and neck should be strongly considered to further evaluate a potential source of active bleeding, as delayed diagnosis can be life-threatening.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937582"},"PeriodicalIF":1.2,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/a1/amjcaserep-23-e937582.PMC9638915.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40676309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unexplained Abdominal Pain Caused by Fracture of the Thoracic Vertebra.","authors":"Hiroya Mabuchi,&nbsp;Hiroshi Higuchi,&nbsp;Toshihiro Imada,&nbsp;Takashi Watari","doi":"10.12659/AJCR.937740","DOIUrl":"https://doi.org/10.12659/AJCR.937740","url":null,"abstract":"<p><p>BACKGROUND It is important to identify the cause of chronic abdominal pain, especially in older adults. Thoracolumbar vertebral compression fractures are one potential cause, and can be difficult to identify. We report a case of an older man with severe unexplained abdominal pain and nausea due to an inadequately treated thoracolumbar vertebral compression fracture. CASE REPORT A 93-year-old man fell 89 days prior to visiting the hospital and was diagnosed with a compression fracture in the Th12 vertebra. He started wearing a corset on the day of the injury. Two days later, he developed abdominal pain, mild nausea, and a decreased appetite. He attributed the symptoms to wearing the corset; therefore, he stopped wearing it. The cause of his abdominal symptoms could not be determined by blood tests and computed tomography of the abdomen. A 45° upper body elevation induced marked right lower abdominal pain (consistent with the dominant region of Th12-L1), and decreased temperature sensation was observed in the same region. We concluded that the abdominal pain was caused by neuropathy owing to a ruptured Th12 vertebral fracture. The patient was treated conservatively, the abdominal pain and nausea resolved 7 weeks after admission, and the patient was discharged. CONCLUSIONS When assessing patients with unexplained abdominal pain, vertebral compression fractures should be included in the differential diagnosis and the necessary diagnostic assessments should be made as early as possible. Early diagnosis provides a wider range of treatment options and can contribute to minimizing functional decline.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937740"},"PeriodicalIF":1.2,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/31/amjcaserep-23-e937740.PMC9638903.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40461451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central Retinal Vein Occlusion After Discontinuation of Rivaroxaban Therapy in a Young Patient with COVID-19 Pulmonary Embolism: A Case Report.","authors":"Bernadetta Płatkowska-Adamska,&nbsp;Magdalena Kal,&nbsp;Joanna Krupińska,&nbsp;Michał Biskup,&nbsp;Dominik Odrobina","doi":"10.12659/AJCR.937739","DOIUrl":"https://doi.org/10.12659/AJCR.937739","url":null,"abstract":"<p><p>BACKGROUND We present the report of the first case, to the best of our knowledge, of central retinal vein occlusion (CRVO) that occurred 3 days after anticoagulation discontinuation in a patient with a history of pulmonary embolism in the course of COVID-19. CASE REPORT A previously healthy 38-year-old man was hospitalized in April 2021 with severe COVID-19 pneumonia, complicated by segmental and subsegmental pulmonary embolism. The patient was treated with a concurrent combination of remdesivir, dexamethasone, therapeutic enoxaparin, ceftriaxone, passive oxygen therapy, and convalescent plasma therapy, which led to pulmonary improvement. The treatment with therapeutic enoxaparin (80 mg/0.8 mL twice a day) was continued for 1 month after discharge, followed by 15 mg of rivaroxaban twice a day for 3 weeks and 20 mg of rivaroxaban once a day for 11 weeks. Within 3 days after rivaroxaban discontinuation, the patient experienced a decrease in visual acuity in his right eye, to the level of 5/25. Nonischemic CRVO with cystoid macular edema was diagnosed and an intravitreal injection of ranibizumab was performed. Common identifiable factors contributing to CRVO were excluded, and the treatment with prophylactic enoxaparin was initiated. Two weeks later, macular edema decreased significantly and visual acuity improved to 20/20. The treatment with enoxaparin was discontinued. CONCLUSIONS Rebound hypercoagulability after discontinuation of rivaroxaban therapy can manifest as CRVO in a young patient with a history of COVID-19 pulmonary embolism. It was successfully treated with an intravitreal injection of ranibizumab.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937739"},"PeriodicalIF":1.2,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a8/10/amjcaserep-23-e937739.PMC9638914.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40447272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Case of Persistently Depressed T Lymphocyte Subsets After SARS-CoV-2 Infection.","authors":"Pamela L Alebna,&nbsp;Shannay Bellamy,&nbsp;Terrence A Tabur,&nbsp;Anthony Mangia","doi":"10.12659/AJCR.937760","DOIUrl":"https://doi.org/10.12659/AJCR.937760","url":null,"abstract":"<p><p>BACKGROUND On rare occasions, viral infections are known to also depress immune cell lines, further worsening clinical outcomes. We describe a patient who presented 3 weeks after recovery from mild COVID-19 disease with clinical features of an atypical pneumonia and was found to have a low CD4+ T-cell count. CASE REPORT An 82-year-old man with a past medical history of coronary artery disease, rheumatoid arthritis, gout, hypertension, and atrial fibrillation presented with a 1-week history of progressively worsening shortness of breath and cough. He was noted to have recovered from mild SARS-CoV-2 infection 3 weeks prior to his current presentation and had been at his baseline level of health following infection. A T cell subset panel was obtained, which revealed an absolute CD3 count of 92 (reference range 840-3060), absolute CD4 count of 52 (reference range 500-1400), absolute CD8 count of 37 (reference range 180-1170), and a normal CD4: CD8 ratio. He was subsequently started on atovaquone for pneumocystis jiroveci pneumonia prophylaxis. CONCLUSIONS This case highlights the need for a high index of suspicion for lymphocyte depletion in older patients with multiple comorbidities who present during or after SARS-CoV-2 infection with atypical symptoms that are suggestive of immunosuppression. In such instances, there should be a low threshold to start prophylactic therapy for possible opportunistic infections.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937760"},"PeriodicalIF":1.2,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6e/53/amjcaserep-23-e937760.PMC9638916.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40460515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A2 Years Old Boy with Recurrent Tracheoesophageal Fistula After Surgical Removal of an Esophageal Button Battery.","authors":"Shuroog Abdulaziz Alhawsawi,&nbsp;Ali Saad Alshamrani,&nbsp;Tantawi Muhammad","doi":"10.12659/AJCR.937810","DOIUrl":"https://doi.org/10.12659/AJCR.937810","url":null,"abstract":"<p><p>BACKGROUND Among the pediatric population, button batteries ingestion is a significant health risk. The main treatment of ingested esophageal button batteries is urgent endoscopic removal. Missed or delayed diagnosis results in serious complications and outcomes. In the literature, high morbidity and mortality have been described in cases of button battery ingestion. By reporting this case we aim to encourage physicians to raise their suspicion of foreign body ingestion in similar pediatric cases and to review the different management approaches in the case of foreign body-induced tracheoesophageal fistula. CASE REPORT A 2-year-old boy was referred to us with difficulty in swallowing solids and liquids, with tactile fever for 1 month. A chest X-ray showed a radiopaque foreign body consistent with a button battery. The battery was removed through surgical cervical incision followed by closure of an identified tracheoesophageal fistula, cervical loop esophagostomy, and gastrostomy. After 6 months of follow-up and gastrostomy feeding, recurrence of the tracheoesophageal fistula was identified, for which surgical closure and esophageal anastomosis were performed. A postoperative esophagogram done on day 7 showed no leak or evidence of tracheoesophageal fistula; the patient started oral feeding and the gastrostomy tube was removed. CONCLUSIONS Even in the absence of witnessed ingestion, the persistent nonspecific symptoms must raise the suspicion of foreign body ingestion in the pediatric age group. Failure of endoscopic removal of the battery is a possibility that need to be included in management algorithms. Surgical repair is the most frequently described approach for foreign body-induced tracheoesophageal fistula repair.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937810"},"PeriodicalIF":1.2,"publicationDate":"2022-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/90/4c/amjcaserep-23-e937810.PMC9634829.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40655310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A 56-Year-Old Woman with Acute Cholecystitis and a Moynihan's Hump, or Caterpillar Configuration, of the Right Hepatic Artery Identified During Laparoscopic Cholecystectomy.","authors":"Isabelle Uhe,&nbsp;Abdul Ghyas Ghyasi,&nbsp;Mickael Chevallay,&nbsp;Floryn Cherbanyk","doi":"10.12659/AJCR.936835","DOIUrl":"https://doi.org/10.12659/AJCR.936835","url":null,"abstract":"<p><p>BACKGROUND When performing a cholecystectomy, several variations can be encountered by the surgeon. The \"Moynihan's hump\" or \"caterpillar configuration\" of the right hepatic artery are the terms used to describe a tortuous right hepatic artery running proximal or parallel to the cystic duct, resulting in a small or short cystic artery and occupying most of Calot's triangle. This report is of a 56-year-old woman with acute cholecystitis and a Moynihan's hump or caterpillar configuration identified at laparoscopic cholecystectomy. CASE REPORT A 56-year-old woman presented herself to the Emergency Department with abdominal pain in the right upper quadrant for a week, associated with nausea, vomiting, and abnormal warm and cold sensation. Acute cholecystitis was diagnosed with ultrasound, and a laparoscopic cholecystectomy using a 4-port technique was performed. During the dissection of Calot's triangle, a large pulsatile vessel forming a loop was found, which turned out to be the right hepatic artery. The anatomic variation that was observed during the procedure is called Moynihan's hump or caterpillar configuration of the right hepatic artery. The surgery was uneventful, and the patient was discharged the next day. CONCLUSIONS The Moynihan's hump or caterpillar configuration of the right hepatic artery is a rare anomaly, with an incidence reported to be between 1.3% and 13.3%. This report has shown that although a Moynihan's hump or caterpillar configuration of the right hepatic artery is rare, the surgeon should be aware of this anatomic anomaly when performing gallbladder surgery to prevent arterial damage and operative complications.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e936835"},"PeriodicalIF":1.2,"publicationDate":"2022-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/67/a8/amjcaserep-23-e936835.PMC9631510.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40456598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pneumatosis Cystoides Coli Presenting as Acute Abdomen in a Patient with Complicated Behcet's Disease: A Case Report.","authors":"Rachel Gefen,&nbsp;Brigitte Helou,&nbsp;Noam Shussman,&nbsp;Anna Elia,&nbsp;Liat Appelbaum,&nbsp;Alon Pikarsky,&nbsp;Jonathan Abraham Demma","doi":"10.12659/AJCR.937677","DOIUrl":"https://doi.org/10.12659/AJCR.937677","url":null,"abstract":"<p><p>BACKGROUND Behcet's disease (BD) is defined as vasculitis involving arteries and veins of any size and affecting almost any organ system. Abdominal manifestations of BD are diverse and nonspecific. Mucosal ulcerations can be seen in the gastrointestinal tract. Extensive ulcerations, especially ileocecal lesions, can lead to perforation, strictures, fistulas, and abscesses. Pneumatosis cystoides intestinale is a rare benign condition characterized by multiple submucosal or subserosal, gas-filled cysts in the gastrointestinal tract wall. Pneumatosis cystoides coli (PCC) affects the colon, can present with a wide range of manifestations, and can mimic many different systemic diseases. We describe a case of PCC in a patient with Behcet's disease who presented to the Emergency Department with a clinical suspicion of acute abdomen. CASE REPORT A 40-year-old man with complicated Behcet's disease, treated with high-dose steroids, presented with acute abdomen and CT scan findings highly suggestive of intestinal obstruction due to ileocolic intussusception. He underwent laparoscopic right hemicolectomy. Pathology demonstrated PCC disease. CONCLUSIONS Pneumatosis cystoides coli can present with a broad range of symptoms and can be secondary to many systemic and autoimmune diseases. With radiological evidence and a high level of suspicion, unnecessary surgery can be prevented.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937677"},"PeriodicalIF":1.2,"publicationDate":"2022-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cb/35/amjcaserep-23-e937677.PMC9627685.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40654796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism.","authors":"Agnieszka Szmigielska","doi":"10.12659/AJCR.937536","DOIUrl":"https://doi.org/10.12659/AJCR.937536","url":null,"abstract":"<p><p>BACKGROUND Pseudohypoaldosteronism (PHA) is characterized by renal tubular resistance to aldosterone and leads to hyponatremia, hyperkalemia, and metabolic acidosis. PHA is divided into 2 types: PHAI and PHAII. PHAI can be dominant (systemic disease) or recessive (renal form). PHAII causes hypertension with hyperkalemia and is recognized mostly in adults. PHA can be a life-threatening disease due to salt-wasting syndrome and severe hypovolemia. CASE REPORT We describe the case of a 2-month-old girl who was admitted to our hospital with hypovolemic shock due to salt-wasting syndrome. Laboratory tests revealed severe electrolyte abnormalities: hyponatremia (Na-116 mmol/L), hyperkalemia (K-10 mmol/L) and metabolic acidosis (pH-7.27; HCO3-12 mmol/L). Serum aldosterone was >100 ng/dL. Genetic analysis confirmed mutations in SCNN1A and CUL3 gene responsible for PHAI and PHAII. Supplementation with NaCl, pharmacological treatment of hyperkalemia, and restriction of potassium in the diet resulted in the normalization of serum electrolytes and proper future development. CONCLUSIONS Pseudohypoaldosteronism should always be considered in the differential diagnosis of hyponatremia and hyperkalemia in children. Salt loss syndrome can lead to hypovolemic shock and, when unrecognized and untreated, to death of a child due to arrythmias and brain edema. The presence of 2 types of PHA in the same patient increases the risk of salt loss and at the same time significantly increases the risk of hypertension because of genetic predisposition and regular diet. Increased salt concentration in sweat and saliva may suggest pseudohypoaldosteronism.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937536"},"PeriodicalIF":1.2,"publicationDate":"2022-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/eb/amjcaserep-23-e937536.PMC9623541.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40652253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}