Varsha Prasad, Frederic Washburn, Baina Barouni, Musab Saeed
{"title":"A Rare Case of Prosthetic Joint Infection with Streptococcus gordonii.","authors":"Varsha Prasad, Frederic Washburn, Baina Barouni, Musab Saeed","doi":"10.12659/AJCR.937271","DOIUrl":"https://doi.org/10.12659/AJCR.937271","url":null,"abstract":"<p><p>BACKGROUND Chronic prosthetic joint infection (PJI) is a devastating complication following total joint arthroplasty, resulting in significant morbidity and mortality. The criterion standard of treatment for chronic PJI is two-stage revision arthroplasty consisting of complete hardware removal, thorough irrigation and debridement, placement of an antibiotic spacer, prolonged intravenous antibiotics based on culture sensitivities, and revision total knee arthroplasty once the infection resolves. The most common organism implicated in chronic PJI is Staphylococcus aureus. CASE REPORT In this report, we have summarized the case of a 75-year-old woman who developed chronic PJI caused by an unusual organism, Streptococcus gordonii, 1 year after a right total knee arthroplasty. S. gordonii is a gram-positive organism that is an oral flora and a colonizer of human teeth. This organism is known to create biofilm on the human teeth, more commonly known as dental plaque. S. gordonii has the ability to travel to extraoral sites and cause infection. It has been found to be a cause of subacute bacterial endocarditis, but it has been rarely described in the literature as a cause of prosthetic joint infection. Treatment of S. gordonii requires a tailored approach. CONCLUSIONS This case report highlights the clinical presentation, diagnosis, and treatment of chronic prosthetic joint infection caused by S. gordonii and identifies a rare cause of PJI that is not well documented in the literature. Streptococcal PJI portends a poorer prognosis, and identification of this organism is crucial for prompt treatment and improved outcomes for PJI.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937271"},"PeriodicalIF":1.2,"publicationDate":"2022-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d0/35/amjcaserep-23-e937271.PMC9664417.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40455672","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}
Audelia Arasheben, Varsha Prasad, Amanda Frugoli, Steven Barr
{"title":"Nevus Lipomatosus Superficialis in a Serous Inflammatory Capsule: A Case Report.","authors":"Audelia Arasheben, Varsha Prasad, Amanda Frugoli, Steven Barr","doi":"10.12659/AJCR.937969","DOIUrl":"https://doi.org/10.12659/AJCR.937969","url":null,"abstract":"<p><p>BACKGROUND Nevus lipomatosus superficialis (NLS) is a rare benign hamartomatous lesion characterized by adipocyte infiltration into the dermal layer of the skin. Clinically, there are 2 types of NLS lesions: the classical type and the solitary type. The solitary type of NLS is significantly more common in women, typically presents after age 30 years, and occurs most often in the inner thighs. This lesion is often mistaken for similar cutaneous lesions, including but not limited to acrochordons, fibrolipoma, neurofibromatosis, and lymphangioma. There is limited information in the literature on unique presentations of this rare lesion. CASE REPORT We present a case of a 26-year-old woman worried about a pedunculated papule in a fluid-filled capsule on her right inner thigh. She reported that the lesion doubled in size within 48 h prior to presentation. The lesion was biopsied in the clinic and pathology showed lobules of adipose cells in the dermis surrounded by collagen fibers and vascularity consistent with a diagnosis of inflamed NLS. Upon follow-up 2 weeks later, there were no signs of recurrence. CONCLUSIONS It was hypothesized that the unique presentation of a fluid-filled capsule surrounding a nevus lipomatosus superficialis occurred acutely following torsion of the pedunculated lesion. In addition to the patient's history of frictional rub between the thighs, histologic signs of lymphocytic infiltration in the dermis and edematous stroma supported the claim of torsional origins. The unique presentation of NLS in a fluid-filled capsule is not often discussed in the literature, and we hope this report will aid providers in identifying such lesions in the clinic.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937969"},"PeriodicalIF":1.2,"publicationDate":"2022-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/ce/amjcaserep-23-e937969.PMC9664414.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40673640","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":"Necrotizing Soft-Tissue Infection of the Trunk Resulting From Wound Caused by a Centipede: A Case Report.","authors":"Yasutaka Tanaka, Takashi Mato, Shoma Fujiya, Yuri Furuhashi, Tomotaka Takanosu, Nobutaka Watanabe, Takafumi Shinjo, Tomohiro Matsumura, Yoshimitsu Izawa, Chikara Yonekawa, Hirotomo Kato","doi":"10.12659/AJCR.937869","DOIUrl":"https://doi.org/10.12659/AJCR.937869","url":null,"abstract":"<p><p>BACKGROUND Centipede envenomation is usually mild, but a review of the existing literature revealed a more serious course in a small proportion of patients. In fact, necrotizing soft-tissue infections have been reported following centipede stings in a small number of cases and require early diagnosis and treatment because of a high mortality rate. CASE REPORT A 78-year-old man was stung by a centipede on the left abdomen. Treatment with antimicrobial agents was started due to cellulitis, but extensive erythema developed from the left chest to the left buttock. Six days after being stung, he visited our hospital. Necrotizing soft-tissue infection was diagnosed and treated immediately with antibiotics and debridement on the left side of the abdomen and chest. Group A Streptococcus was detected in the fascia. The wound was left partially open and washed daily, resulting in gradual improvement of the wound condition. On hospitalization day 8, the open wound was able to be closed. Antimicrobial therapy was completed on hospitalization day 16. The patient showed good progress. CONCLUSIONS Centipede stings are not rare in tropical and subtropical regions, and most occurrences of centipede envenomation cause only local symptoms. However, we believe that even wounds caused by centipedes should be monitored, given the possibility of subsequent severe infection, as in the present case. In addition, the causative organisms identified in the present patient with necrotizing soft-tissue infection following a centipede sting were commensal bacteria of the skin. Future research is thus needed to clarify the relationship between these causative organisms and centipedes.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937869"},"PeriodicalIF":1.2,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5f/d2/amjcaserep-23-e937869.PMC9662074.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40673960","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}
David Navarro-Pérez, Sara García-Oreja, Francisco Javier Álvaro-Afonso, Mateo López-Moral, Marta García-Madrid, José Luis Lázaro-Martínez
{"title":"Cantharidin-Podophyllin-Salicylic Acid Formulation as a First-Line Treatment for Plantar Warts? A Case Report with Multiple Plantar Warts of Human Papillomavirus Biotype 27 and Previous Failed Treatments.","authors":"David Navarro-Pérez, Sara García-Oreja, Francisco Javier Álvaro-Afonso, Mateo López-Moral, Marta García-Madrid, José Luis Lázaro-Martínez","doi":"10.12659/AJCR.937867","DOIUrl":"https://doi.org/10.12659/AJCR.937867","url":null,"abstract":"<p><p>BACKGROUND Plantar warts are benign skin tumors caused by the human papillomavirus (HPV). There are multiple treatments, but none ensure absolute success. Successful treatment depends on several factors, such as the location, number of lesions, HPV biotype, and the patient's health condition. This report presents a 53-year-old woman who had multiple recalcitrant plantar warts with HPV biotype 27 that were treated using a cantharidin-podophyllin-salicylic acid (CPS) formulation after 2 failed treatments. CASE REPORT A 53-year-old woman was seen on October 25, 2021. She had 6 plantar warts due to HPV biotype 27, which was confirmed by polymerase chain reaction using a sample of hyperkeratosis scales obtained from the wart after debridement. Five cryotherapy sessions were applied, without clinical improvement. Two sessions of nitric-acid-zinc complex were then applied, from which the patient reported severe pain, without clinical improvement. Finally, 3 sessions of CPS formulation were applied, and the HPV remitted in all warts. CONCLUSIONS Conservative treatments, such as cryotherapy, have not been effective in a case of multiple recalcitrant plantar warts. The combined action of the 3 compounds of CPS formulation was key in the resolution of this case. Plantar wart treatment should be easy to apply, effective, fast, and efficient. In cases of recalcitrant or numerous warts, treatment should be more aggressive from the beginning if the patient's lifestyle allows it. It would be interesting to conduct randomized clinical trials to find out which patients could be indicated for the CPS formulation as a first line of treatment.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937867"},"PeriodicalIF":1.2,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/e6/amjcaserep-23-e937867.PMC9662077.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40474770","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":"Combined Rupture of the Right Anterior Cruciate Ligament and Patellar Tendon on a 28-Year-Old Spanish Professional Handball Player Successfully Treated by Single-Stage Reconstructive Surgery.","authors":"Francisco Selva-Sarzo, Luis Ignacio Nebot-Sanchis","doi":"10.12659/AJCR.937689","DOIUrl":"https://doi.org/10.12659/AJCR.937689","url":null,"abstract":"<p><p>BACKGROUND We present a case of combined rupture of the right anterior cruciate ligament (ACL) and patellar tendon (PT) in a 28-year-old professional handball player that was successfully treated by single-stage reconstructive surgery. The combined rupture of the ACL and PT is a rare injury pattern, and there are only a few cases reported in the literature. Presently, little evidence exists to guide management decisions for these patients. In comparison to isolated injuries, the combined rupture of the PT and ACL presents many management dilemmas. CASE REPORT A professional handball player from the Valencia Handball Club in the Spanish ASOBAL league had a rupture of the PT, ACL, medial collateral ligament, and medial meniscus in May 2004. A PT and ACL reconstruction was performed in a single-stage surgery. The patient returned to the sport and had no complications. He retired from professional competition after the 2016-17 season. Until follow-up in May 2021, he continued to be stable and without symptoms, remaining completely free of pain and arthrofibrosis, and the patella was centered. CONCLUSIONS Single-stage reconstruction of the PT and ACL in an elite-level athlete facilitated the continuation of his performance at the highest level of the sport. To the best of our knowledge, this is the only published case of a PT and ACL reconstruction in a single-stage surgical procedure that resulted in the patient making a full return to playing handball in Spain at an elite level. This case has important implications for sports medicine and sports physiotherapy.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937689"},"PeriodicalIF":1.2,"publicationDate":"2022-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/03/amjcaserep-23-e937689.PMC9662075.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40461149","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":"Apixaban-Associated Diffuse Alveolar Hemorrhage in an Elderly Man with Multiple Complications.","authors":"Takuya Ozawa, Hideki Terai, Akiyoshi Kajino, Shiro Otake, Ayaka Saito, Miyuki Nishie, Yoshikazu Kishino, Hirofumi Kamata, Kentaro Hayashida, Makoto Ishii, Koichi Fukunaga","doi":"10.12659/AJCR.937809","DOIUrl":"https://doi.org/10.12659/AJCR.937809","url":null,"abstract":"<p><p>BACKGROUND Diffuse alveolar hemorrhage (DAH) caused by direct oral anticoagulants (DOACs) has increased in recent years with the increase in prescriptions of DOACs. Generally, DOACs are considered to have a lower bleeding risk than the traditional anticoagulant, warfarin. However, major bleeding, including DAH, due to DOACs can be seen in clinical practice, and there are few reports to elucidate when DOAC-associated alveolar hemorrhage occurs and whether DOAC-induced DAH has a trigger. CASE REPORT An 80-year-old man diagnosed and treated for atrial fibrillation with apixaban 2.5 mg twice daily for 1 year before admission, underwent 2 invasive medical procedures over a short period of time. Hemoptysis began after the procedures. He experienced shortness of breath and rapidly progressive hypoxic respiratory failure. His postsurgical oxygen saturation level dropped rapidly. Chest radiography and computed tomography images showed pulmonary infiltration and ground-glass opacity in both lungs. Apixaban treatment was discontinued, and mechanical ventilation was initiated. Bronchoalveolar lavage cytology revealed hemosiderin-laden macrophages. A diagnosis of diffuse alveolar hemorrhage (DAH) was made. In previous reports about DAH caused by DOACs, most patients had bleeding triggers; drug interactions in patients taking DOACs are one of such triggers. Although DOACs are relatively safe for elderly patients, DAH can occur in patients receiving either early-stage or long-term treatment. CONCLUSIONS The onset of DOAC-associated DAH is not limited to the early stages of medication initiation. Various triggers can induce DAH in patients receiving DOACs.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937809"},"PeriodicalIF":1.2,"publicationDate":"2022-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6a/b6/amjcaserep-23-e937809.PMC9662076.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40670652","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":"Tacrolimus Induction Therapy for Nephrotic Syndrome Caused by Minimal Mesangial Lupus Nephritis with Lupus Podocytopathy: A Case-Based Review.","authors":"Ibuki Kurihara, Chihiro Terai, Hiroki Yabe, Hitoshi Sugawara","doi":"10.12659/AJCR.937201","DOIUrl":"https://doi.org/10.12659/AJCR.937201","url":null,"abstract":"<p><p>BACKGROUND Nephrotic syndrome caused by minimal mesangial lupus nephritis is considered rare. Nephrotic syndrome can be caused by minimal mesangial lupus nephritis with diffuse epithelial foot-process effacement and lupus podocytopathy. CASE REPORT A 23-year-old Japanese woman diagnosed with mixed connective tissue disease was admitted because of weight gain and generalized edema for 2 weeks prior to admission. She had butterfly-shaped erythema on her cheeks, proteinuria, leukocytopenia with lymphocytopenia, and hypoalbuminemia. She was positive for antinuclear antibodies, and specific autoantibodies were only positive for the ribonucleoprotein (RNP) antigen. She was diagnosed with systemic lupus erythematosus. Renal biopsy showed minor glomerular abnormalities, and immunofluorescence revealed peripheral deposits of IgM and complement C3c. Electron microscopy revealed diffuse podocyte foot-process effacement of >80% of the capillary loop surfaces, with only a few subendothelial deposits. Consequently, we diagnosed minimal mesangial lupus nephritis with lupus podocytopathy. On hospital day 4, we administered 1000 mg/day of methylprednisolone for 3 days, followed by prednisolone 50 mg/day, but proteinuria persisted. On day 12, we administered tacrolimus (3 mg/day). Proteinuria improved and then disappeared on day 17. Prednisolone was gradually tapered and stopped after 3 years, although tacrolimus 3 mg/day was continued. No flare-up was observed 4 years after admission. CONCLUSIONS Tacrolimus showed good efficacy in this case of minimal mesangial lupus nephritis with lupus podocytopathy. Prospective and randomized controlled trials should be conducted to demonstrate the efficacy of tacrolimus for this indication.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937201"},"PeriodicalIF":1.2,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d5/2d/amjcaserep-23-e937201.PMC9650553.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40467965","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}
Alessandro Milani, Giuseppe Magliulo, Valeria Rossetti, Roberta Polimeni, Annalisa Pace
{"title":"Isolated First Branchial Cleft Anomalies of the External Auditory Canal.","authors":"Alessandro Milani, Giuseppe Magliulo, Valeria Rossetti, Roberta Polimeni, Annalisa Pace","doi":"10.12659/AJCR.936809","DOIUrl":"https://doi.org/10.12659/AJCR.936809","url":null,"abstract":"<p><p>BACKGROUND Branchial cleft anomalies are congenital aberrations of the first to fourth pharyngeal pouches. First branchial cleft anomalies are classified into 2 subtypes according to anatomical and histological features. Their diagnosis can be difficult and depends on radiological and histological findings. In contrast, the required treatment is surgical removal, owing to the high risk of infection or malignancy. This case report introduces a first branchial cleft anomaly in an older woman with exclusive involvement of the external auditory canal (EAC). CASE REPORT This case report introduces a first branchial cleft anomaly in an 82-year-old woman with exclusive involvement of the EAC. She reported a history of mixed moderate hypoacusis and recurrent otitis media in the last year, without facial nerve involvement. Computed tomography and magnetic resonance imaging were performed to plan surgical treatment, which consisted of canaloplasty and Thiersch grafting. The histopathological examination on operative findings revealed a cystic lesion that was lined by cylindrical epithelium adjacent to the squamous cells, compatible with a diagnosis of first branchial arch malformative residues. CONCLUSIONS This is the unique case of first branchial cleft anomalies reported in an adult patient that exclusively involved the EAC. The onset of the disease was atypical, and surgery with the total removal of the lesion was the only possible treatment. Histopathology results revealed cylindric epithelium not represented in the EAC, compatible with first branchial arch malformative residues. This rare condition is a potential diagnostic option that should be considered in the differential diagnosis of cysts of the EAC.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e936809"},"PeriodicalIF":1.2,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d7/99/amjcaserep-23-e936809.PMC9650556.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40472409","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}
Erinie Mekheal, Brooke E Kania, Poona Kumari, Vinod Kumar, Michael Maroules
{"title":"Gynecomastia and Malignancy: A Case of Male Invasive Ductal Breast Carcinoma Treated with Neoadjuvant Chemotherapy.","authors":"Erinie Mekheal, Brooke E Kania, Poona Kumari, Vinod Kumar, Michael Maroules","doi":"10.12659/AJCR.937370","DOIUrl":"https://doi.org/10.12659/AJCR.937370","url":null,"abstract":"<p><p>BACKGROUND Male breast cancer represents a rare malignancy with identifiable risk factors, including genetics, radiation exposure, liver dysfunction, and concomitant diagnosis of Klinefelter syndrome. Gynecomastia can commonly present in these patients, and despite increased estrogen levels in adipose breast tissue, gynecomastia has not been proven to be a significant risk factor for carcinoma development. Male patients with new-onset breast masses are recommended to undergo diagnostic mammograms and breast ultrasound for further evaluation. Those diagnosed with breast cancer most commonly have invasive ductal carcinoma of the breast, and over half of these patients are found to have estrogen and progesterone receptor (ER/PR) positivity. CASE REPORT In this case report, we present a Black man with gynecomastia and an areolar lesion for a 6-month duration following a traumatic event. He was initially referred to the surgical team for further evaluation, and subsequent imaging and biopsy data revealed ER/PR-positive invasive ductal carcinoma. Multidisciplinary discussions were held, and the patient was arranged to begin neoadjuvant treatment with doxorubicin hydrochloride and cyclophosphamide, followed by treatment with paclitaxel (AC-T) chemotherapy, followed by bilateral mastectomy and adjuvant hormonal therapy. CONCLUSIONS The treatment of male breast cancer has remained relatively like that of female breast cancer, which may be due to the limited data in the treatment of male breast cancer. Thus far, studies involving neoadjuvant chemotherapy of female patients have demonstrated promising responses to expand surgical options for patients and possibly decrease the rates of recurrence. Additional studies are warranted to discern optimal therapy for the male patient population.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937370"},"PeriodicalIF":1.2,"publicationDate":"2022-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/22/53/amjcaserep-23-e937370.PMC9647523.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40666009","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":"Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.","authors":"Vachiravit Sriprakoon, Chalisa Ittagornpunth, Nakorn Puapaiboon, Aekasit Bunyahathaipat, Punnapat Piriyanon, Sookkasem Khositseth, Kitiwan Rojnueangnit","doi":"10.12659/AJCR.937695","DOIUrl":"https://doi.org/10.12659/AJCR.937695","url":null,"abstract":"<p><p>BACKGROUND Acute intermittent porphyria (AIP) is a rare genetic disease caused by the deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. AIP is passed by autosomal dominant inheritance. Heterozygous pathogenic variants in hydroxymethylbilane synthase (HMBS) are associated with AIP. Multisystemic manifestations of acute neurovisceral features exist, which are quite challenging for diagnosis. Currently, few patients worldwide have been reported with AIP. A small number of reports have been published in Thailand, but none have been confirmed by molecular genetics diagnosis. CASE REPORT A 14-year-old female adolescent presented with severe intermittent abdominal pain, vomiting, seizure, posterior reversible encephalopathy syndrome, syndrome of inappropriate antidiuretic hormone, and muscle weakness, which are all classic phenotypes of an acute AIP attack. The patient received several investigations before AIP was suspected. High levels of urine porphobilinogen, high levels of urine aminolevulinic acid, and a heterozygous known pathogenic variant in HMBS: c.517C>T (p.Arg173Trp) were identified. Therefore, AIP was the definitive diagnosis. Then, Sanger sequencing testing was performed for the patient's family; this variant was found in her father, paternal grandmother, and sister, who were all asymptomatic (latent AIP). After the AIP was confirmed, high carbohydrate loading was given as a standard treatment. She had a full recovery; her clinical course of the attack episode lasted for 8 weeks. CONCLUSIONS An early diagnosis of AIP leads to prompt and specific treatment, which can shorten the duration of attacks, prevent complications, reduce the cost of treatment, and reduce the mortality rate.</p>","PeriodicalId":205256,"journal":{"name":"The American Journal of Case Reports","volume":" ","pages":"e937695"},"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/1f/c9/amjcaserep-23-e937695.PMC9641550.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40664895","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}