OpenMed/multicare-articles huggingface dataset:
Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly
Authors: M Aguinaga, I Llano, J C Zenteno, S Kofman Alfaro
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscarriages and a daughter with HPE who presented early neonatal death. The father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate. Intelligence and a brain CT scan were normal. Direct paternal sequencing analysis showed a novel nonsense mutation (W127X). Facial characteristics are considered as HPE microforms, and the pedigree suggested autosomal dominant inheritance with a variable expression of the phenotype. This study reinforces the importance of an exhaustive evaluation of couples with a history of miscarriages and neonatal deaths with structural defects.
Postoperative Multimodal Analysis in Successful Gas Displacement of a Submacular Hemorrhage
Authors: Tatiana Urrea-Victoria, Emiliano Fulda-Graue, Miguel A Quiroz-Reyes, Felipe Esparza-Correa, Alejandra Nieto-Jordan, Erick A Quiroz-Gonzalez, Federico Graue-Wiechers
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

In this report, we describe a case of timely gas vitrectomy to displace a moderate submacular hemorrhage from the submacular space without tPA, release vitreoretinal traction along the borders of a posterior retinal tear, and analyze postoperative multimodal imaging findings in a 34-year-old male patient whose right eye was injured by a stone. The patient underwent a successful nontissue plasminogen activator gas vitrectomy 3 days after the accident. A multimodal evaluation with spectral-domain optical coherence tomography (SD-OCT), 10-2 and 30-2 campimetry, microperimetry, multifocal electroretinography (mfERG), and visual evoked potentials was performed 6 months after the accident. The multimodal imaging tests yielded abnormal foveal SD-OCT patterns, with a fibrous sealed tear in the retinal pigment epithelium. Campimetry showed low levels of retinal sensitivity; microperimetry and mfERG revealed a subnormal retinal response and a reduction in the N1 and P1 wave amplitudes. The visual evoked potential responses were normal. Multidisciplinary examination at 6 months postoperatively revealed a structurally and functionally abnormal macula. The retina remained attached. Our functional findings indicate that submacular hemorrhage should be treated in a timely manner to minimize photoreceptor damage.
Dissociative Amnesia with Dissociative Fugue and Psychosis: a Case Report from a 25-Year-Old Ethiopian Woman
Authors: Liyew Agenagnew, Elias Tesfaye, Selamawit Alemayehu, Mathewos Masane, Tilahun Bete, Jinenus Tadessa
Journal: Case Rep Psychiatry (2020)
MeSH terms: Case Reports

Introduction:
The case after exposure to intense traumatic events manifests signs and symptoms of dissociative amnesia with a dissociative fugue and schizophrenia. The psychotic symptoms we found, in this case, were very complicated and mimicking primary psychotic disorders. Therefore, this might be a good forum for the scientific world to learn from this case report, how psychotic disorders coexist with dissociative disorders, since the literatures in this area are too rare. Main Symptoms and/or Important Clinical Findings. This case report focuses on the case of dissociative amnesia with dissociative fugue and psychosis in a 25-year-old Ethiopian female who lost her husband and three children at the same time during the nearby ethnic conflict. Associated with amnesia, she lost entire autobiographical information, and she also had psychotic symptoms like delusions and auditory hallucination which is related to the traumatic event she faced. The Main Diagnoses, Therapeutic Interventions, and Outcomes. The diagnosis of dissociative amnesia with a dissociative fugue comorbid with schizophrenia was made, and both pharmacological and psychological interventions were given to the patient. After the intervention, the patient had a slight improvement regarding psychotic symptoms but her memory problem was not restored.
Conclusions:
The observation in this case report brings to the fore that individuals with dissociative amnesia with dissociative fugue can have psychotic symptoms, and it takes a longer time to recover from memory disturbances.
Chlorpromazine Efficiently Treats the Crisis of Pheochromocytoma: Four Case Reports and Literature Review
Authors: James Jiqi Wang, Zuowen He, Yan Yang, Bo Yu, Hong Wang, Hu Ding, Guanglin Cui, Luyun Wang, Dao Wen Wang, Jiangang Jiang
Journal: Front Cardiovasc Med (2021)
Keywords: case series, catecholamine, chlorpromazine, hypertension, pheochromocytoma, pheochromocytoma multisystem crisis
MeSH terms: Case Reports

Pheochromocytoma multisystem crisis (PMC) is a potentially lethal emergency due to catecholamine secretion. The condition manifests as severe hypertension to intractable cardiogenic shock and has a high mortality rate. This study explored the efficacy and safety of applying chlorpromazine on PMC patients. The study included seven patients (median age, 42 years; range, 14-57 years) diagnosed with pheochromocytoma. Four consecutive PMC patients were admitted to our critical care unit between 2016 and 2020 due to abdominal or waist pain, nausea, and vomiting. Their blood pressure (BP) fluctuated between 200-330/120-200 and 40-70/30-50 mmHg. Chlorpromazine (25 or 50 mg) was injected intramuscularly, followed by continuous intravenous infusion (2-8 mg/h). The patients' BP decreased to 100-150/60-100 mmHg within 1-3 h and stabilized within 3-5 days. Two weeks later, surgical tumor resection was successfully performed in all four patients. Similar clinical outcomes were also obtained in three patients with sporadic PMC reported in the literature who received chlorpromazine treatment, which reduced their BP readings from >200/100 mmHg to 120/70 mmHg. Our observations, combined with sporadic reports, showed that chlorpromazine efficiently controlled PMC. Thus, future studies on the use of chlorpromazine are warranted.
Primary biliary cirrhosis-specific antimitochondrial antibodies in neonatal haemochromatosis
Authors: Daniel S Smyk, Maria G Mytilinaiou, Tassos Grammatikopoulos, A S Knisely, Giorgina Mieli-Vergani, Dimitrios P Bogdanos, Diego Vergani
Journal: Clin Dev Immunol (2013)
MeSH terms: Autoantibodies / immunology, Autoantigens / immunology, Hemochromatosis / immunology, Mitochondria / immunology, Case Reports, Adult, Antibody Specificity / immunology, Female, Hemochromatosis / diagnosis, Hemochromatosis / surgery, Humans, Immunoglobulin G / immunology, Infant, Newborn, Liver / metabolism, Liver / pathology, Liver Cirrhosis, Biliary / diagnosis, Liver Cirrhosis, Biliary / immunology, Male, Mouth Mucosa / pathology, Autoantibodies, Autoantigens, Immunoglobulin G, Neonatal hemochromatosis

Background and aim:
Neonatal hemochromatosis (NH) is characterised by severe liver injury and extrahepatic siderosis sparing the reticuloendothelial system. Its aetiology is obscure, although it has been proposed as an alloimmune disease, resulting from immunological reaction to self-antigens (alloantigens) which the body recognizes as foreign. We studied an infant with NH and his mother whose sera contained antimitochondrial antibody (AMA), the hallmark of primary biliary cirrhosis (PBC).
Material and methods:
To investigate the origin of AMA in the infant, we studied isotype distributions in serum from the mother and infant. Serum samples were obtained at diagnosis of NH, after liver transplantation (LT; age 1 month), and over the ensuing 17 months.
Results:
At NH diagnosis, infant and maternal serum contained AMA of the IgG isotype, predominantly of the G3 and G1 subclasses. AMA strongly reacted against the pyruvate dehydrogenase complex E2 subunit (PDC-E2), the major PBC-specific AMA autoantigen. Anti-PDC-E2 responses in both infant and mother declined over time, being present 2 months after LT (mother and child) and absent 10 months later (mother) and 17 months later (child).
Conclusion:
The association of maternally transferred IgG1 and IgG3 subclass AMA with the appearance of liver damage in an infant with NH may suggest a causal link between antibody and liver damage.
Delayed presentation of congenital diaphragmatic hernia: a case report
Authors: Saif Ghabisha, Faisal Ahmed, Saleh Al-Wageeh, Ebrahim Al-Shami, Abdu Al-Hajri, Waleed Aljbri, Fawaz Mohammed
Journal: Pan Afr Med J (2021)
Keywords: congenital diaphragmatic hernia, case report, late presentation, surgery
MeSH terms: Hernia, Hiatal, Hernias, Diaphragmatic, Congenital / diagnostic imaging, Hernias, Diaphragmatic, Congenital / surgery, Case Reports, Abdomen, Diaphragm, Humans, Infant, Male, Radiography

Congenital diaphragmatic hernia (CDH) is known as a structural defect caused by inadequate fusion of the pleuroperitoneal membrane forming the diaphragm, allowing peritoneal viscera to protrude into the pleural cavity. It affects nearly one out of 2500 live births. We here report the case of a six-month-old boy with left diaphragmatic hernia presenting with poor feeding, breathing difficulty, cough, and recurrent pneumonia in the last 2 months. Chest X-ray and computed tomography scan revealed left sided CDH. The defect was corrected through open surgical repair without complications. At 5-month follow-up a radiograph was performed which revealed full recovery. The primary goal of this report was to alert physicians to suspect this diagnosis in patients with unexpected presentation of diaphragmatic hernia.
Clinical Significance of Isolated Third Cranial Nerve Palsy in Traumatic Brain Injury: A Detailed Description of Four Different Mechanisms of Injury through the Analysis of Our Case Series and Review of the Literature
Authors: Micaela Uberti, Shumaila Hasan, David Holmes, Mario Ganau, Chris Uff
Journal: Emerg Med Int (2021)

Third cranial nerve palsy (3cnP) following traumatic brain injury (TBI) is a worrying neurological sign and is often associated with an expanding mass lesion, such as extradural or acute subdural haematomas. Isolated 3cnP can be found in the absence of posttraumatic space-occupying mass lesion, yet it is often considered as a devastating prognostic factor in the context of diffuse axonal injury (DAI). Through the analysis of five exemplificative cases and a thorough review of the literature, we identified four possible mechanisms leading to 3cnP: (1) a partial rootlet avulsion at the site of exit from the midbrain, representing a direct shearing injury to the nerve; (2) a direct traction injury due to the nerve stretching against the posterior petroclinoid ligament at the base of the oculomotor triangle secondary to the downward displacement of the brainstem at the time of impact; (3) a direct vascular compression as a result of internal carotid artery (ICA) dissection or pseudoaneurysm; (4) an indirect injury caused by impaired blood supply to the third nerve in addition to the detrimental biochemical effects of the underlying brain injury itself. Understanding the exact mechanism underlying the onset of 3cnP is key to provide an informed clinical decision-making to the patients and ensure their best chances of recovery. Our experience corroborates data from the literature showing that, even in Grade III DAI, prompt recognition of isolated 3cnP can guide adequate treatment. Nonetheless, even when an overall good neurological outcome is achieved, recovery of isolated 3cnP is dismal, and only rarely the visual deficit completely resolves.
Diabetic Ketoacidosis Post Bariatric Surgery
Authors: Ivania M Rizo, Caroline M Apovian
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: roux-en-y gastric bypass, bariatric surgery, diabetic ketoacidosis, ketosis-prone diabetes mellitus, type 2 diabetes
MeSH terms: Case Reports

In patients with type 2 diabetes, bariatric surgery can lead to significant improvements in glycemic control and diabetes remission. We present a case of a Hispanic female with type 2 diabetes phenotype who underwent bariatric surgery and post-operatively stopped her insulin therapy due to multiple reasons, including decreased oral intake and concern for hypoglycemia. Ultimately, she developed diabetic ketoacidosis. She does not fit into the classical type 2 diabetes or type 1 diabetes definition but into the heterogeneous subgroup of diabetes called ketosis-prone diabetes.
Polysomnography findings in sleep-related eating disorder: a systematic review and case report
Authors: Bartlomiej Blaszczyk, Tomasz Wieczorek, Monika Michalek-Zrabkowska, Mieszko Wieckiewicz, Grzegorz Mazur, Helena Martynowicz
Journal: Front Psychiatry (2023)
Keywords: psg, sred, nocturnal eating, parasomnia, polysomnography, sleep-related eating disorder
MeSH terms: Systematic Review

Background:
Sleep-related eating disorder (SRED) consists of recurrent episodes of uncontrolled, involuntary eating and drinking 1-3 h after falling asleep with partial or full unconsciousness. This condition is diagnosed based on interviews with the patients affected and the diagnostic criteria of the International Classification of Sleep Disorders. However, polysomnography (PSG) is not necessary to confirm this disease. This systematic review aims to evaluate the findings of PSG in SRED patients.
Methods:
For this systematic review, PubMed, Embase, and Scopus databases were searched in February 2023, which resulted in 219 records. After removing duplicates, the articles that included the presentation of PSG results of SRED patients in English were selected. In addition, only original studies were considered. The risk of bias by using case reports and descriptive studies was assessed using the Joanna Briggs Institute critical appraisal tools and the Risk of Bias In Non-randomized Studies of Interventions (ROBINS-I) tool. Furthermore, a case report of a 66-year-old woman with SRED was included.
Results:
A total of 15 papers were selected for further analysis, of which 7 were descriptive studies, 6 were case reports, and 2 were observational studies. The risk of bias in the majority of the studies was moderate or high. Unexpectedly, if the eating episode occurred during PSG, in most cases it was not observed during deep sleep (the N3 sleep stage). Moreover, studies did not report significant deviations in the sleep parameters measured using PSG. Among SRED patients, the prevalence of sleepwalking was much higher than the general population. Our case report presented a potentially life-threatening episode of holding an apple in the mouth that might result in choking, which was captured using PSG.
Conclusion:
Polysomnography is not necessary for the diagnosis of SRED. However, it could facilitate the diagnosis and differentiation of SRED from other eating disorders. PSG also has limitations in capturing eating episodes and in addition, its cost effectiveness should be considered during the diagnostic process. More studies into the pathophysiology of SRED are needed because classifying SRED as non-rapid eye movement parasomnias can be inappropriate as it does not always occur during deep sleep.
Hypocalcemia as a Cause of Complex Febrile Seizures in a Toddler
Authors: Kevin Meesters, Tessa Wassenberg, Jesse Vanbesien
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

A 13-month-old boy had suffered three episodes of complex febrile seizures. At this admission, there were signs of hyperexcitability, such as Trousseau sign and QTc prolongation. A point of care blood gas analysis revealed severe hypocalcemia. Therefore, prior to administering intravenous calcium gluconate, we took blood samples to investigate the etiology of this hypocalcemia: magnesium, parathormone, and 25-hydroxyvitamin D. Since both parathormone and phosphate were significantly elevated and 25-hydroxyvitamin D was within the normal range, pseudohypoparathyroidism was diagnosed. After two years of follow-up, serum calcium had normalized in our patient under supplementation of vitamin D and calcium. He had been free of convulsions, although different febrile episodes had occurred.
Acute pancreatitis complicated with choledochal duct rupture
Authors: M Bouvry, K Van Renterghem, A Verrijckt, P Smeets, V Meersschaut, S Vande Velde, R De Bruyne, M De Vos, M Van Winckel, S Van Biervliet
Journal: Case Rep Gastrointest Med (2011)
MeSH terms: Case Reports

Recurrent acute pancreatitis is a rare clinical entity in childhood with unknown incidence (Rosendahl et al., 2007) and often occurring in a familial context. Genetic factors such as PRSS1 mutations (cationic trypsinogen gene) can be found in some patients. However, many remain idiopathic. The natural history remains poorly documented and the most frequent complications reported are pain, exocrine pancreatic insufficiency, diabetes mellitus, and pancreatic adenocarcinoma after long-standing hereditary pancreatitis. We describe a patient with hereditary pancreatitis in whom a mild pancreatitis episode was complicated by a perforation of the ductus choledochus.
Extracorporeal membrane oxygenation for complex multiorgan system trauma
Authors: Michael S Firstenberg, Karen Nelson, Erik Abel, John McGregor, Daniel Eiferman
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports

With growing experience, the indications for salvage extracorporeal membrane oxygenation continue to expand. We describe a successful application of extracorporeal support in a polytrauma patient presenting with profound hypothermia, respiratory failure, and whom was later found to have an intracranial hemorrhage. We advocate the role of salvage therapy even in patients with complex pathophysiology despite perceived relative or absolute contraindications to extracorporeal support.
The kikuchi-fujimoto disease in Nigeria: a case report and literature review
Authors: Akinsegun Akinbami, Mojeed Odesanya, Sunday Soyemi, Sarah John-Olabode, Adewumi Adediran, Olajumoke Oshinaike, Ebele Uche, Adedoyin Dosunmu, Akinola Dada, Olaitan Okunoye
Journal: Case Rep Med (2014)

The Kikuchi-Fujimoto is a rare, self-limiting disease, which is characterized by regional lymphadenopathy. It occurs worldwide with a higher prevalence among Asians and women below the age of forty years. We present 41-year-old Nigerian woman who was investigated extensively for unilateral left cervical lymphadenopathy. She was eventually diagnosed as having the Kikuchi-Fujimoto disease and was managed conservatively thereafter. We describe a case report and review of literature for better awareness of the disease amongst medical practitioners and pathologists in Africa.
Graft preservation with multi-stage surgical repair of an aortoesophageal fistula after thoracic endovascular aortic repair - A case report
Authors: Matthias Buerger, Jan Paul Frese, Sebastian Kapahnke, Andreas Greiner
Journal: Int J Surg Case Rep (2020)
Keywords: aortoesophageal fistula, graft infection, tevar, thoracoabdominal aorta
MeSH terms: Case Reports

Introduction:
Aortoesophageal fistula (AEF) after thoracic endovascular aortic repair (TEVAR) is a rare complication associated with high mortality. Most well established treatment is multi-staged surgery, including removal of infected stent graft, esophageal resection and aortic reconstruction.
Presentation of case:
We report on a case of a 67-year-old patient with AEF and stent graft infection. Stent removal was infeasible due to the critical condition of the patient and history of multiple vascular procedures of the thoracoabdominal aorta. Surgical management included staged right and left thoracotomy, esophagectomy, vacuum therapy (VAC) on stent prosthesis and subsequent graft coverage with omental and pleural flaps, followed by esophageal reconstruction.
Discussion:
An established and generally accepted treatment approach for graft infections does not exist. Graft explantation and radical surgical debridement is the therapy of choice for prosthetic infections. In comparison to previous literature, our case represents the complexity of the treatment of AEF and its enormous demands on the interdisciplinary medical team.
Conclusion:
Our report shows that in an emergency situation without other surgical options as in our case, it was possible to stabilize the patient through application of vacuum therapy in the infected area, with simultaneous esophagectomy, followed by secondary staged reconstruction with omentoplasty and pleura parietalis flap remaining the graft in situ.
Congenital diaphragmatic hernia: Misdiagnosis in adolescence
Authors: Yogender Singh Kadian, Kamal Nain Rattan, Manish Verma, Pradep Kajal
Journal: J Indian Assoc Pediatr Surg (2009)
Keywords: congenital diaphragmatic hernia, gastric injury, tuberculosis
MeSH terms: Case Reports

We report 3 cases of congenital diaphragmatic hernia (CDH) in the second decade of life which were misdiagnosed on initial presentation. The first case had an iatrogenic gastric injury because of intercostal tube drainage for suspected pleural effusion. The second case was treated for pulmonary tuberculosis for 6 months before being diagnosed as a case of CDH. The third case presented as acute chest pain on the left side. It was treated accordingly for 1 month and was diagnosed as a CDH on a CT scan of the chest when seen by a surgeon.
Methadone induced sensorineural hearing loss
Authors: Chadi Saifan, Daniel Glass, Iskandar Barakat, Suzanne El-Sayegh
Journal: Case Rep Med (2013)

Background. Sudden sensorineural hearing loss (SSHL) caused by opiate abuse or overuse has been well documented in the medical literature. Most documented case reports have involved either heroin or hydrocodone/acetaminophen. Recently, case reposts of methadone induced SSHL have been published. Case Report. We present the case of a 31-year-old man who developed SSHL after a methadone overdose induced stupor. He was subsequently restarted on methadone at his regular dose. On follow-up audiometry exams, he displayed persistent moderately severe sensorineural hearing loss bilaterally. Discussion. This case is notable because unlike all but one previously reported case, the patient-who was restated on methadone-did not make a complete recovery. Conclusion. Methadone overuse in rare cases causes SSHL.
Organizing pneumonia by paragonimiasis and coexistent aspergilloma manifested as a pulmonary irregular nodule
Authors: In Jae Lee, Jinwon Seo, Dong Gyu Kim
Journal: Case Rep Radiol (2011)
MeSH terms: Case Reports

Organizing pneumonia by paragonimiasis and coexistent aspergilloma as a pulmonary nodule is a rare case of lung disease. Its radiographic or CT feature has not been described before in the radiologic literature. We present organizing pneumonia by paragonimiasis and coexistent aspergilloma manifested as a pulmonary irregular nodule on CT.