Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf216
Kehinde Awodele, Sunday Charles Adeyemo, Godwin Iyanuoluwa Oyewumi, Olufemi Ebenezer Abidoye, Johnson O Komolafe, Adeniyi Olanipekun Fasanu, Samuel Oluwabunmi Omopariola, Ayodeji Olaolu Oyeniran, Johnson Adekeye Olaore, Olufemi Olamakinwa Ala, Eniola Dorcas Olabode, Ayodele Raphael Ajayi
Urethral prolapse is a rare and often underdiagnosed condition characterized by circumferential eversion of the distal urethra through the external urethral meatus, forming a doughnut-shaped protrusion. We present the case of a 34-month-old girl who was brought to the pediatric emergency unit by her parents following the discovery of bloodstains on her underwear. Clinical examination revealed a reddish, fleshy, doughnut-shaped mass measuring approximately 2.0 × 1.5 cm surrounding the urethral meatus, located above the vaginal introitus and beneath the clitoral hood. She was managed conservatively with oral cefixime suspension (4 mg/kg/day), ibuprofen, sitz baths, and topical estrogen cream. By the fourth day, the bleeding had completely resolved. The prolapsed mass was significantly reduced in size after two weeks and resolved entirely by the sixth week, without residual symptoms. This case highlights the importance of considering urethral prolapse as a differential diagnosis in cases with vaginal bleeding in prepubertal girls.
{"title":"A case report on urethral prolapse.","authors":"Kehinde Awodele, Sunday Charles Adeyemo, Godwin Iyanuoluwa Oyewumi, Olufemi Ebenezer Abidoye, Johnson O Komolafe, Adeniyi Olanipekun Fasanu, Samuel Oluwabunmi Omopariola, Ayodeji Olaolu Oyeniran, Johnson Adekeye Olaore, Olufemi Olamakinwa Ala, Eniola Dorcas Olabode, Ayodele Raphael Ajayi","doi":"10.1093/omcr/omaf216","DOIUrl":"10.1093/omcr/omaf216","url":null,"abstract":"<p><p>Urethral prolapse is a rare and often underdiagnosed condition characterized by circumferential eversion of the distal urethra through the external urethral meatus, forming a doughnut-shaped protrusion. We present the case of a 34-month-old girl who was brought to the pediatric emergency unit by her parents following the discovery of bloodstains on her underwear. Clinical examination revealed a reddish, fleshy, doughnut-shaped mass measuring approximately 2.0 × 1.5 cm surrounding the urethral meatus, located above the vaginal introitus and beneath the clitoral hood. She was managed conservatively with oral cefixime suspension (4 mg/kg/day), ibuprofen, sitz baths, and topical estrogen cream. By the fourth day, the bleeding had completely resolved. The prolapsed mass was significantly reduced in size after two weeks and resolved entirely by the sixth week, without residual symptoms. This case highlights the importance of considering urethral prolapse as a differential diagnosis in cases with vaginal bleeding in prepubertal girls.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf216"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410616","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf219
Bahaa Arafat, Mohammed Dibas, Baraa Emran, Ahmed Salous, Ahmed Enaya, Alaa Sarsour, Zakaria Hamdan, Noor Abulehia
Peritonitis remains a serious complication in patients undergoing peritoneal dialysis, often caused by common organisms such as Staphylococcus aureus. However, rare pathogens may also play a role. We report a case of peritonitis in a 41-year-old female on continuous ambulatory peritoneal dialysis, in whom Pluralibacter gergoviae was identified as the causative organism. The patient presented with abdominal pain and cloudy dialysate but remained hemodynamically stable. Peritoneal fluid analysis revealed elevated white cell counts, and culture Pluralibacter gergoviae, which was sensitive to multiple antibiotics. Initial empiric therapy was adjusted accordingly, leading to clinical and laboratory improvement. This is the second reported case of Pluralibacter gergoviae-related peritonitis in the literature. This case underscores the importance of recognizing uncommon pathogens in peritoneal dialysis-related infections and the role of prompt microbiological diagnosis in guiding targeted therapy. Increased awareness and reporting of such cases are essential to enhance understanding and optimize patient management.
{"title":"Pluralibacter gergoviae: an uncommon pathogen in peritoneal dialysis-related peritonitis: the second documented case worldwide.","authors":"Bahaa Arafat, Mohammed Dibas, Baraa Emran, Ahmed Salous, Ahmed Enaya, Alaa Sarsour, Zakaria Hamdan, Noor Abulehia","doi":"10.1093/omcr/omaf219","DOIUrl":"10.1093/omcr/omaf219","url":null,"abstract":"<p><p>Peritonitis remains a serious complication in patients undergoing peritoneal dialysis, often caused by common organisms such as <i>Staphylococcus aureus</i>. However, rare pathogens may also play a role. We report a case of peritonitis in a 41-year-old female on continuous ambulatory peritoneal dialysis, in whom Pluralibacter gergoviae was identified as the causative organism. The patient presented with abdominal pain and cloudy dialysate but remained hemodynamically stable. Peritoneal fluid analysis revealed elevated white cell counts, and culture Pluralibacter gergoviae, which was sensitive to multiple antibiotics. Initial empiric therapy was adjusted accordingly, leading to clinical and laboratory improvement. This is the second reported case of Pluralibacter gergoviae-related peritonitis in the literature. This case underscores the importance of recognizing uncommon pathogens in peritoneal dialysis-related infections and the role of prompt microbiological diagnosis in guiding targeted therapy. Increased awareness and reporting of such cases are essential to enhance understanding and optimize patient management.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf219"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410661","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf204
Farah Ibraik, Ibraheem Hammouri, Hasan Arafat, Ahmad G Hammouri, Hanna Qahoush
Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome (RSS), is a congenital growth disorder characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, asymmetry, and other distinctive features. It was first described by Alex Russell and Henry Silver in the 50s of the 20th century. Its broad range of manifestations makes its true incidence difficult to determine. While gastrointestinal anomalies such as gastroesophageal reflux disease and esophagitis have been reported in SRS patients, an association with colorectal cancer (CRC) has not been described. Here, we present the case of a 31-year-old man with SRS who was referred to us for constipation. A rectal biopsy revealed moderately differentiated adenocarcinoma, and a staging CT scan demonstrated multiple lung and hepatic nodules.
{"title":"Colorectal cancer in a man with silver-Russell syndrome: a case report.","authors":"Farah Ibraik, Ibraheem Hammouri, Hasan Arafat, Ahmad G Hammouri, Hanna Qahoush","doi":"10.1093/omcr/omaf204","DOIUrl":"10.1093/omcr/omaf204","url":null,"abstract":"<p><p>Silver-Russell syndrome (SRS), also known as Russell-Silver syndrome (RSS), is a congenital growth disorder characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, asymmetry, and other distinctive features. It was first described by Alex Russell and Henry Silver in the 50s of the 20th century. Its broad range of manifestations makes its true incidence difficult to determine. While gastrointestinal anomalies such as gastroesophageal reflux disease and esophagitis have been reported in SRS patients, an association with colorectal cancer (CRC) has not been described. Here, we present the case of a 31-year-old man with SRS who was referred to us for constipation. A rectal biopsy revealed moderately differentiated adenocarcinoma, and a staging CT scan demonstrated multiple lung and hepatic nodules.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf204"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410578","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf201
Aws Murad Frhood, Ahmed Abdulhussain Shahatta, Sajjad Ghanim Al-Badri, Abdulrahman Khaldoon Hamid, Muntadher Yousif Hasan Al Gehadi, Nabeel Al-Fatlawi, Riyam Mudheher Nabbat Al-Ajrash, Ali Saad Al-Shammari, Zaryab Bacha
Medial Pontomedullary Junction (MPMJ) infarction is an uncommon cerebrovascular event with distinctive clinical presentations that often mimic benign conditions, such as Bell's palsy, complicating early diagnosis. This case report describes a 43-year-old female presenting with acute facial droop, dysarthria, dysphagia, and sensory deficits suggestive of Bell's palsy. Despite an unremarkable initial CT scan, advanced imaging with MRI revealed a left MPMJ infarction, highlighting the critical role of diffusion-weighted imaging (DWI) in detecting brainstem lesions. The clinical features of lower motor neuron facial palsy, contralateral sensory deficits, and dysphagia distinguish MPMJ infarction from peripheral facial nerve disorders. Risk factors such as poorly controlled hypertension and diabetes likely contributed to arterial compromise in this patient. This report highlights the need for detailed neurological assessments and advanced imaging to accurately diagnose and manage atypical brainstem strokes, reducing severe morbidity risks.
{"title":"Lower motor neuron facial palsy unmasking a rare brainstem stroke: a case report of medial Pontomedullary junction infarction.","authors":"Aws Murad Frhood, Ahmed Abdulhussain Shahatta, Sajjad Ghanim Al-Badri, Abdulrahman Khaldoon Hamid, Muntadher Yousif Hasan Al Gehadi, Nabeel Al-Fatlawi, Riyam Mudheher Nabbat Al-Ajrash, Ali Saad Al-Shammari, Zaryab Bacha","doi":"10.1093/omcr/omaf201","DOIUrl":"10.1093/omcr/omaf201","url":null,"abstract":"<p><p>Medial Pontomedullary Junction (MPMJ) infarction is an uncommon cerebrovascular event with distinctive clinical presentations that often mimic benign conditions, such as Bell's palsy, complicating early diagnosis. This case report describes a 43-year-old female presenting with acute facial droop, dysarthria, dysphagia, and sensory deficits suggestive of Bell's palsy. Despite an unremarkable initial CT scan, advanced imaging with MRI revealed a left MPMJ infarction, highlighting the critical role of diffusion-weighted imaging (DWI) in detecting brainstem lesions. The clinical features of lower motor neuron facial palsy, contralateral sensory deficits, and dysphagia distinguish MPMJ infarction from peripheral facial nerve disorders. Risk factors such as poorly controlled hypertension and diabetes likely contributed to arterial compromise in this patient. This report highlights the need for detailed neurological assessments and advanced imaging to accurately diagnose and manage atypical brainstem strokes, reducing severe morbidity risks.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf201"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410597","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf202
Elias Belete, Francesco Capriotti, Carolina Vitale, Carlo Airola
A 30-year-old female farmer from South-West Shewa, Ethiopia, presented with chest and abdominal pain. Imaging revealed concomitant pulmonary and hepatic cystic echinococcosis, with calcified liver cysts showing the classic cerebral gyri sign. According to WHO guidelines, pulmonary surgery was advised, while hepatic cysts warranted observation. Serology was unavailable, and the patient was lost to follow-up. This case highlights imaging as a key diagnostic tool and the need for preventive education in endemic settings.
{"title":"Imaging of concomitant pulmonary and hepatic hydatid cysts in a young Ethiopian farmer.","authors":"Elias Belete, Francesco Capriotti, Carolina Vitale, Carlo Airola","doi":"10.1093/omcr/omaf202","DOIUrl":"10.1093/omcr/omaf202","url":null,"abstract":"<p><p>A 30-year-old female farmer from South-West Shewa, Ethiopia, presented with chest and abdominal pain. Imaging revealed concomitant pulmonary and hepatic cystic echinococcosis, with calcified liver cysts showing the classic cerebral gyri sign. According to WHO guidelines, pulmonary surgery was advised, while hepatic cysts warranted observation. Serology was unavailable, and the patient was lost to follow-up. This case highlights imaging as a key diagnostic tool and the need for preventive education in endemic settings.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf202"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410612","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf205
Omair Bseiso, Anas Zahdeh, Wasef Alhroub, Maaweya Jabareen, Hasan I Hroob, Sharif Issa Basal, Ashraf Al-Zughayyar, Loai Muhtaseb
Cannabis use has been increasingly associated with cerebrovascular events, though simultaneous large-vessel occlusions in both anterior and posterior circulations are rare. We report a case involving a 50-year-old male with no medical history who presented with decreased consciousness and left-sided hemiplegia. CT angiography imaging revealed acute occlusion of the right middle cerebral artery (MCA) and the basilar artery. Urine toxicology was positive for cannabis. Extensive cardiac and laboratory workups were unremarkable. The patient underwent successful mechanical thrombectomy, achieving full reperfusion (TICI 3) without complications. With no identifiable alternative cause and a history of chronic cannabis use, a diagnosis of cannabis-associated large-vessel ischemic stroke was made. To our knowledge, this is the first reported case of concurrent MCA and basilar artery occlusions in this context. This case highlights the need for increased awareness of cannabis as a potential risk factor for multi-territory ischemic stroke, particularly in patients without traditional vascular risk factors.
{"title":"Cannabis-induced ischemic stroke involving the basilar and middle cerebral arteries in a 50-year-old man: a rare case report.","authors":"Omair Bseiso, Anas Zahdeh, Wasef Alhroub, Maaweya Jabareen, Hasan I Hroob, Sharif Issa Basal, Ashraf Al-Zughayyar, Loai Muhtaseb","doi":"10.1093/omcr/omaf205","DOIUrl":"10.1093/omcr/omaf205","url":null,"abstract":"<p><p>Cannabis use has been increasingly associated with cerebrovascular events, though simultaneous large-vessel occlusions in both anterior and posterior circulations are rare. We report a case involving a 50-year-old male with no medical history who presented with decreased consciousness and left-sided hemiplegia. CT angiography imaging revealed acute occlusion of the right middle cerebral artery (MCA) and the basilar artery. Urine toxicology was positive for cannabis. Extensive cardiac and laboratory workups were unremarkable. The patient underwent successful mechanical thrombectomy, achieving full reperfusion (TICI 3) without complications. With no identifiable alternative cause and a history of chronic cannabis use, a diagnosis of cannabis-associated large-vessel ischemic stroke was made. To our knowledge, this is the first reported case of concurrent MCA and basilar artery occlusions in this context. This case highlights the need for increased awareness of cannabis as a potential risk factor for multi-territory ischemic stroke, particularly in patients without traditional vascular risk factors.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf205"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410531","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf203
Salma Barakat, Rayan Yousif, Ahmed Rafei, Rawan A Bedab, Abdelmounem E Abdo
Gastric carcinoids (GCDs) are rare neuroendocrine tumors that can occasionally present with upper gastrointestinal bleeding. We report a case of a 60-year-old male who presented with hematemesis due to a gastric carcinoid tumor. Emergency gastroscopy identified a bleeding lesion in the lesser curvature, successfully managed with adrenaline injection. Endoscopic ultrasound confirmed a mucosal-confined lesion, and endoscopic mucosal resection (EMR) was performed. Histopathology confirmed a well-differentiated neuroendocrine tumor with negative margins. The patient remained stable post-procedure and was discharged with a planned follow-up. This case highlights the role of EMR as a minimally invasive and effective therapeutic option for bleeding gastric carcinoids, particularly in resource-limited settings. Early recognition and intervention can optimize patient outcomes while avoiding unnecessary surgical procedures.
{"title":"Endoscopic mucosal resection of a bleeding gastric carcinoid in a resource-limited setting: a case report.","authors":"Salma Barakat, Rayan Yousif, Ahmed Rafei, Rawan A Bedab, Abdelmounem E Abdo","doi":"10.1093/omcr/omaf203","DOIUrl":"10.1093/omcr/omaf203","url":null,"abstract":"<p><p>Gastric carcinoids (GCDs) are rare neuroendocrine tumors that can occasionally present with upper gastrointestinal bleeding. We report a case of a 60-year-old male who presented with hematemesis due to a gastric carcinoid tumor. Emergency gastroscopy identified a bleeding lesion in the lesser curvature, successfully managed with adrenaline injection. Endoscopic ultrasound confirmed a mucosal-confined lesion, and endoscopic mucosal resection (EMR) was performed. Histopathology confirmed a well-differentiated neuroendocrine tumor with negative margins. The patient remained stable post-procedure and was discharged with a planned follow-up. This case highlights the role of EMR as a minimally invasive and effective therapeutic option for bleeding gastric carcinoids, particularly in resource-limited settings. Early recognition and intervention can optimize patient outcomes while avoiding unnecessary surgical procedures.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf203"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410608","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf209
Abdullah Dukhan, Haya Hamsho, Fatima Kader Agha, Nour Shaker, Thaer Douri
Dermatitis neglecta, is a localized inflammatory skin condition often resulting from inadequate hygiene, or psychological factors. It is usually treated with cleansing by alcohol. In our paper we report two cases of patients who developed dermatitis neglecta following isotretinoin therapy, highlighting a possible link between isotretinoin-induced xerosis and reduced facial cleansing, as underrecognized effect. This condition is overlooked and underdiagnosed and identifying these lesions is important to avoid invasive interventions such as skin biopsies or prolonged pharmacotherapy treatment.
{"title":"Dermatitis neglecta after using Isotretinoin: case series.","authors":"Abdullah Dukhan, Haya Hamsho, Fatima Kader Agha, Nour Shaker, Thaer Douri","doi":"10.1093/omcr/omaf209","DOIUrl":"10.1093/omcr/omaf209","url":null,"abstract":"<p><p>Dermatitis neglecta, is a localized inflammatory skin condition often resulting from inadequate hygiene, or psychological factors. It is usually treated with cleansing by alcohol. In our paper we report two cases of patients who developed dermatitis neglecta following isotretinoin therapy, highlighting a possible link between isotretinoin-induced xerosis and reduced facial cleansing, as underrecognized effect. This condition is overlooked and underdiagnosed and identifying these lesions is important to avoid invasive interventions such as skin biopsies or prolonged pharmacotherapy treatment.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf209"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410546","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}
Pub Date : 2025-10-29eCollection Date: 2025-10-01DOI: 10.1093/omcr/omaf188
Sulymon A Saka
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder marked by cortisol deficiency, it often presents with adrenal crises and ambiguous genitalia in 46, XX neonates. Isolated cleft palate (ICP) is a congenital defect resulting from incomplete palatal fusion. The co-occurrence of CAH and ICP is extremely rare. We report a 19-day-old Nigerian neonate with ambiguous genitalia and cleft palate. Laboratory findings revealed hyperkalaemia, hyponatremia, and metabolic acidosis, suggestive of salt-wasting CAH. Physical examination showed clitoromegaly, fused labioscrotal folds, and absent vaginal opening. Despite limited diagnostic resources, a clinical diagnosis of CAH was made, and hormone and electrolyte therapy were initiated. Multidisciplinary care was provided for both CAH and ICP. This case highlights the importance of coordinated management in rare congenital presentations and calls for further research into potential links between these anomalies.
{"title":"Neonatal presentation of congenital adrenal hyperplasia accompanied by isolated cleft palate: case report.","authors":"Sulymon A Saka","doi":"10.1093/omcr/omaf188","DOIUrl":"10.1093/omcr/omaf188","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder marked by cortisol deficiency, it often presents with adrenal crises and ambiguous genitalia in 46, XX neonates. Isolated cleft palate (ICP) is a congenital defect resulting from incomplete palatal fusion. The co-occurrence of CAH and ICP is extremely rare. We report a 19-day-old Nigerian neonate with ambiguous genitalia and cleft palate. Laboratory findings revealed hyperkalaemia, hyponatremia, and metabolic acidosis, suggestive of salt-wasting CAH. Physical examination showed clitoromegaly, fused labioscrotal folds, and absent vaginal opening. Despite limited diagnostic resources, a clinical diagnosis of CAH was made, and hormone and electrolyte therapy were initiated. Multidisciplinary care was provided for both CAH and ICP. This case highlights the importance of coordinated management in rare congenital presentations and calls for further research into potential links between these anomalies.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2025 10","pages":"omaf188"},"PeriodicalIF":0.4,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12570002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410687","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}