Yaqqira H M Womack, Misha B Asif, Fadi E Shamoun, Linnea M Baudhuin, Mayowa A Osundiji
{"title":"Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence.","authors":"Yaqqira H M Womack, Misha B Asif, Fadi E Shamoun, Linnea M Baudhuin, Mayowa A Osundiji","doi":"10.7326/aimcc.2026.0224","DOIUrl":"https://doi.org/10.7326/aimcc.2026.0224","url":null,"abstract":"<p><p>Abetalipoproteinemia (ABL) affects fewer than 1 per 1 million people, whereas neurofibromatosis type 1 (NF1) occurs in approximately 1 in 3000 to 4000 individuals. We describe the clinical findings in a 38-year-old woman with both disorders. ABL was diagnosed in the neonatal period, followed by NF1 at age 7 years based on multiple café-au-lait spots, intertriginous freckling, and Lisch nodules. Genetic testing revealed a homozygous pathogenic <i>MTTP</i> frameshift variant [c.215del (p.Pro72Leufs*8)] and a heterozygous pathogenic <i>NF1</i> splice variant [c.205-2A>C]. To our knowledge, this co-occurrence has not been previously reported. The estimated likelihood of the co-occurrence is approximately 1 in 3 billion individuals.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13481154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148801970","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}
Jade Jensen, Erin Merritt, Bukola A Olarewaju, Judy B Tejon, Misha B Asif, Brendan C Lanpher, Mayowa A Osundiji
{"title":"Concurrent Phenylalanine Hydroxylase-Related Disorder and Celiac: A Rare Co-occurrence With Implications for Clinical Management.","authors":"Jade Jensen, Erin Merritt, Bukola A Olarewaju, Judy B Tejon, Misha B Asif, Brendan C Lanpher, Mayowa A Osundiji","doi":"10.7326/aimcc.2025.1082","DOIUrl":"10.7326/aimcc.2025.1082","url":null,"abstract":"<p><p>Comorbid nutritional disorders can present with clinical management challenges. Phenylalanine hydroxylase (PAH) deficiency and celiac disease are both associated with dietary protein intolerance, yet they are different disorders. Phenylalanine hydroxylase deficiency is a rare genetic disorder that results in elevated levels of phenylalanine (Phe) in the blood. It causes multisystemic abnormalities, including neurologic findings, seizures, episodic tremor, ataxia, and cognitive and sensory disturbances. In contrast, celiac disease is a common nutritional disorder that arises from immune-mediated enteropathy against dietary gluten. Herein, we describe the clinical findings in an adult with PAH deficiency and celiac disease to showcase some opportunities for improved personalized nutritional management.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13201087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148044622","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}
Lara K Rotter, Julian A Villalba, Claressa E Lucas, Melisa J Willby, Marwan M Azar
{"title":"Nonserogroup-1 <i>Legionella pneumophila</i> Pneumonia: Navigating Diagnostic Challenges.","authors":"Lara K Rotter, Julian A Villalba, Claressa E Lucas, Melisa J Willby, Marwan M Azar","doi":"10.7326/aimcc.2024.0480","DOIUrl":"https://doi.org/10.7326/aimcc.2024.0480","url":null,"abstract":"<p><p>A 59-year-old woman with newly diagnosed immune thrombocytopenia treated with steroids and rituximab presented with a cavitary lung lesion. Extensive work-up, including bronchoalveolar lavage and transthoracic lung biopsy, were unrevealing. Molecular testing on lung tissue ultimately diagnosed nonserogroup-1 <i>Legionella pneumophila</i>, underscoring the utility of advanced diagnostics in clinical conundrums.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"30 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13693811/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149277959","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}
Ehab Y Harahsheh, Erin Merritt, Judy B Tejon, Bukola A Olarewaju, Misha B Asif, Dusica Babovic-Vuksanovic, Mayowa A Osundiji
{"title":"Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants.","authors":"Ehab Y Harahsheh, Erin Merritt, Judy B Tejon, Bukola A Olarewaju, Misha B Asif, Dusica Babovic-Vuksanovic, Mayowa A Osundiji","doi":"10.7326/aimcc.2025.0802","DOIUrl":"10.7326/aimcc.2025.0802","url":null,"abstract":"<p><p>Neurofibromatosis 1 (NF1) is one of the most common genetic diseases of the central nervous system. The nature of intracranial lesions that are associated with NF1 are yet to be fully defined. Arachnoid, velum interpositum, and odontogenic cysts are among the more common intracranial cystic lesions that can be congenital. Although odontogenic cysts are well known to be associated with Gorlin-Goltz syndrome, the possibilities of other genetic disorders in patients with odontogenic and other intracranial cystic lesions have continued to stir research interests. Here, we report 2 cases of unrelated patients, each patient having concurrent intracranial cystic lesions in the setting of a diagnosis of NF1. Individual I had concomitant arachnoid and odontogenic cysts in parallel with a novel heterozygous germline <i>NF1</i> pathogenic frameshift variant, <i>NF1</i> [NM_000267.3] c.40del (p.Val14Serfs*10). Individual II had concomitant arachnoid and vellum interpositum cysts in the context of a heterozygous likely pathogenic <i>NF1</i> germline variant [<i>NF1</i> (NM_000267.3) c.4265C>T, p.(Ser1422Leu)]. Our observations suggest that clinicians should consider NF1 among the differential diagnosis for intracranial cystic lesions such as arachnoid, vellum interpositum, and odontogenic cysts.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203961","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}
Mohammad Karam Chaaban, George Bcharah, Bukola A Olarewaju, Linnea M Baudhuin, Fadi Shamoun, Mayowa A Osundiji
{"title":"Congenital Coarctation of the Aorta in a Patient With <i>ROBO4</i> c.695C>T (p.Thr232Met) Germline Variant.","authors":"Mohammad Karam Chaaban, George Bcharah, Bukola A Olarewaju, Linnea M Baudhuin, Fadi Shamoun, Mayowa A Osundiji","doi":"10.7326/aimcc.2025.0735","DOIUrl":"10.7326/aimcc.2025.0735","url":null,"abstract":"<p><p>Roundabout guidance receptor 4 (<i>ROBO4</i>) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of <i>ROBO4</i>'s role in aortopathy is yet to be fully defined. We studied a 64-year-old woman with a history of surgically corrected congenital aortic coarctation in childhood, bicuspid aortic valve, and mild mitral regurgitation. She had genome sequencing, which revealed a heterozygous germline <i>ROBO4</i> variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with <i>ROBO4</i> germline variants may include congenital coarctation of the aorta.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12851620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087995","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":"Imaging the Invisible: The Macklin Effect in Cannabinoid Hyperemesis Syndrome","authors":"Parth Adrejiya, Mohammad Abubaker, Abdelrahman Qamar, Swathi Gorle, Ashok Kumar Kanugula","doi":"10.7326/aimcc.2025.0598","DOIUrl":"https://doi.org/10.7326/aimcc.2025.0598","url":null,"abstract":"Spontaneous pneumomediastinum is a rare, typically benign condition characterized by the presence of air in the mediastinum, often resulting from alveolar rupture due to elevated intrathoracic pressures. The Macklin effect, air dissection along bronchovascular sheaths following alveolar injury, is central to its pathophysiology. Cannabis use, particularly in cases of cannabinoid hyperemesis syndrome, may precipitate this via forceful vomiting. Though uncommon, especially in young adults, recognizing psychoactive substance use as a potential trigger is crucial for accurate diagnosis and management. We present the case of a previously healthy 25-year-old man with a history of cannabis use disorder who developed spontaneous pneumomediastinum most likely secondary to the Macklin effect.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"4 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.acpjournals.org/doi/pdf/10.7326/aimcc.2025.0598?download=true","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147918803","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}
Mayowa A Osundiji, Alicia Chen, Joseph D Farris, Radhika Dhamija
{"title":"Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency.","authors":"Mayowa A Osundiji, Alicia Chen, Joseph D Farris, Radhika Dhamija","doi":"10.7326/aimcc.2025.0080","DOIUrl":"https://doi.org/10.7326/aimcc.2025.0080","url":null,"abstract":"<p><p>Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that is caused by biallelic mutations in <i>HMGCS2</i>. The manifestations of mHS deficiency can include hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, hyperammonemia, and hepatomegaly. Here, we report a case of movement disorder following hypoglycemic encephalopathy involving the basal ganglia in a patient with mHS deficiency. Exome sequencing showed novel compound heterozygous variants in <i>HMGCS2</i>, a partial gene deletion (classified as pathogenic) and c.704T>A (p.M235K) variant that was deemed to be likely pathogenic. Our findings suggest that mHS deficiency can result in basal ganglia injury and movement disorder.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"4 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12377477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980731","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}
ABDUL MUHSEN ABDEEN, Olivia Lim, Samuel Crow, Victoria L. Watson
{"title":"Chest Pain Beyond the Heart: The Role of Cocaine in Pneumomediastinum","authors":"ABDUL MUHSEN ABDEEN, Olivia Lim, Samuel Crow, Victoria L. Watson","doi":"10.7326/aimcc.2024.0624","DOIUrl":"https://doi.org/10.7326/aimcc.2024.0624","url":null,"abstract":"Cocaine use can cause cardiovascular issues, notably acute coronary syndrome, but this case highlights a rare complication: pneumomediastinum. A 27-year-old woman, a first-time cocaine user, presented with chest pain and fluctuating consciousness. Her history included obesity, gastric sleeve surgery, and substance use. Findings of a physical examination revealed chest crepitus. Findings from an electrocardiogram were normal, and laboratory test results showed an elevated leukocyte count and D-dimer. Findings of a urine screen were positive for cannabinoids and cocaine. Imaging confirmed pneumomediastinum. After treatment of presumed mediastinitis, the patient was discharged free of symptoms and supplied with drug counseling resources. This case underscores the importance of considering diverse diagnoses in cocaine-related presentations of chest pain.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"4 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147910546","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}
Neeharika Namineni, Christina Waldron, Christopher Tormey, George Goshua
{"title":"Severe, Refractory Primary Warm Autoimmune Hemolytic Anemia Requiring 90 Erythrocyte Transfusions.","authors":"Neeharika Namineni, Christina Waldron, Christopher Tormey, George Goshua","doi":"10.7326/aimcc.2023.1141","DOIUrl":"10.7326/aimcc.2023.1141","url":null,"abstract":"<p><p>A previously healthy 60-year-old man presented to the hospital with a hemoglobin of 3.5 g/dL. He was diagnosed with severe warm autoimmune hemolytic anemia (wAIHA) with reticulocytopenia on hospital day 1 that was not responsive to steroids, immune globulin, and rituximab. Over a 42-day hospital stay, the patient remained continuously transfusion-dependent with a ninety red cell unit requirement for his refractory disease. He was trialed on therapeutic plasma exchange before ultimately undergoing inpatient splenectomy that led to a response within hours. He remains in complete remission at six months of follow-up.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"3 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11081177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900655","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}
Fátima Raad, Vicente Ramos Polledo, Andreu Fernández-Codina, Fernando De La Iglesia Martínez
{"title":"Ischemic Complications of Giant-Cell Arteritis","authors":"Fátima Raad, Vicente Ramos Polledo, Andreu Fernández-Codina, Fernando De La Iglesia Martínez","doi":"10.7326/aimcc.2023.0560","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0560","url":null,"abstract":"Giant-cell arteritis (GCA) is a medium- to large-vessel arteritis predominantly involving the branches of the aorta, occurring in elderly patients. Findings in GCA include symptoms such as headache, jaw claudication, or polymyalgia rheumatica; ischemic events; and signs of a systemic inflammatory reaction. The clinical presentation may rarely involve other areas. We report the case of an 85-year-old man with biopsy-proven GCA presenting with fever, weight loss, and scalp necrosis.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"26 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}