OpenMed/multicare-articles huggingface dataset:
A Rare Case of Gallstone Ileus: Bouveret Syndrome Presenting with Concurrent Gallstone Coleus
Authors: Sena Park, Janaka Balasooriya, Thembi Ncube
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Background:
Bouveret syndrome and gallstone coleus are two rare subsets of gallstone ileus. Bouveret syndrome involves a gastric outlet obstruction, whereas gallstone coleus involves an obstruction of the large intestine. Both of the conditions are caused by gallstones, which migrated from the gallbladder via the fistulae. Due to its rarity, only few cases were reported for each condition. The current case describes an even rarer case of Bouveret syndrome and gallstone coleus presenting together. The case report will hopefully provide better understanding of the disease presentation and hence, lead to early diagnosis and management.
Case:
Ms. B is an 86-year-old woman of Italian background who presented to our emergency department with worsening symptoms of bowel obstruction. Her past clinical history included Kaposi sarcoma, hypertension, osteoarthritis, and vitamin D deficiency with surgical history including caesarean section and tonsillectomy. On her imaging, she had two large gallstones, one in the proximal duodenum and one in the distal colon. It also showed gastric dilatation and gas in the gall bladder. She was subsequently diagnosed with Bouveret syndrome with concurrent gallstone coleus. The laparotomy revealed two points of gallstone obstruction at the first part of the duodenum and at the distal sigmoid colon. Her postoperative recovery was uncomplicated. She was discharged to the care of her family and followed up in the general surgery clinic.
Conclusion:
The current case report describes a unique presentation of Bouveret syndrome where an additional gallstone was found simultaneously in the sigmoid colon causing the obstruction. By introducing this novel case of having two different subsets of gallstone ileus simultaneously, there will be a better understanding of both conditions and hopefully improve our scope of practice.
Surgical outcomes of open hip reduction with synovectomy for developmental dysplasia of the hip patient with Juvenile idiopathic arthritis: A case report
Authors: Thamer S Alhussainan, Abdullah M Alghamdi, Rakan A Almogbel
Journal: Int J Surg Case Rep (2020)
Keywords: case report, developmental dysplasia of the hip, hip dysplasia, hip synovectomy, juvenile idiopathic arthritis
MeSH terms: Case Reports

Introduction:
Developmental dysplasia of the hip (DDH) is a common hip disorder and its association with other musculoskeletal, genetic, and neurological diseases were well described in the literature. Juvenile idiopathic arthritis (JIA) is a rare rheumatological condition, and its presence in a Developmental dysplasia of the hip (DDH) child makes this a very challenging case.
Presentation of the case:
This case report is describing the presentation of 9 months old girl to orthopedic service referred from the pediatric rheumatology clinic after diagnosing her and starting the treatment for Juvenile idiopathic arthritis (JIA). Bilateral neglected Developmental dysplasia of the hip (DDH) - International Hip Dysplasia Institute (IHDI) type 4- was detected during her clinical and radiological assessment, necessitating surgical management after controlling her Juvenile idiopathic arthritis (JIA). The surgical procedure and its clinical and radiological outcomes more than four years after her surgical treatment are described in detail in this report as well.
Discussion:
The management of Developmental dysplasia of the hip (DDH) associated with Juvenile idiopathic arthritis (JIA) has no established guidelines in literature. Here, we share our experience in managing such rare cases. We believe that medical control of Juvenile idiopathic arthritis (JIA) before proceeding for open reduction of Developmental dysplasia of the hip (DDH) is the key to successful results.
Conclusion:
The reported case is uniquely having both Developmental dysplasia of the hip (DDH) and Juvenile idiopathic arthritis (JIA) treated with open reduction, pelvic osteotomy, and femoral shortening resulting in outstanding clinical and radiological outcomes.
Capillary haemangioma of the heart presenting with pericardial effusion: A case report
Authors: Anshuman Darbari, Devender Singh, Shegu Gilbert, Barun Kumar, Neha Singh
Journal: J Cardiovasc Thorac Res (2021)
Keywords: capillary haemangioma, cardiac tumours, pericardial effusion
MeSH terms: Case Reports

Cardiac haemangiomas (CH) are rare benign primary tumours of the heart and constitute nearly 2.8% of primary cardiac tumours. In a-48-year-old female, a cardiac tumour mass over right ventricular out flow area and main pulmonary artery was detected during diagnostic workup for aetiology of recurrent pericardial effusion. Echocardiograhy and pericardial fluid findings were non conclusive. Contrast enhanced Computed tomography (CECT) and Positron emission tomography (PET) scan imaging found the exophytic, moderately hypermetabolic, heterogeneous mass lesion posterolateral to main pulmonary trunk. We did partial resection of lesion without cardiac reconstruction and open incisional biopsy through midline sternotomy incision. Histopathological analysis confirmed this as a case of Capillary type of haemangioma of heart.
Bilateral atrophic squirrhus of breast in neglected breast cancer: case report
Authors: Doulira Louati, Khaled Trigui, Donia Abid, Salma Kammoun, Manel Dermech, Kais Chaabane, Habib Amouri
Journal: Pan Afr Med J (2014)
Keywords: atrophic squirrhus carcinoma, bilateral breast cancer, lymphoedema
MeSH terms: Adenocarcinoma, Scirrhous / pathology, Breast Neoplasms / pathology, Case Reports, Atrophy, Fatal Outcome, Female, Humans, Middle Aged, Rural Population

The atrophic squirrhus carcinoma is an advanced form of breast cancer, which is most often neglected by patients. These days it has become very rare. The bilaterality of this form is even more exceptional. We present a case of atrophic squirrhus breast cancer of a 58 years old woman, rural origin, which is particular for its bilaterality and rapid evolution causing the death after 22 months from the first abnormal functional sign.
Complicated Postoperative Flat Back Deformity Correction With the Aid of Virtual and 3D Printed Anatomical Models: Case Report
Authors: Jennifer Fayad, Mate Turbucz, Benjamin Hajnal, Ferenc Bereczki, Marton Bartos, Andras Bank, Aron Lazary, Peter Endre Eltes
Journal: Front Surg (2021)
Keywords: 3d printed anatomical models, 3d virtual model, 3dpdf, flat back deformity, fused deposition modeling
MeSH terms: Case Reports

Introduction: The number of patients with iatrogenic spinal deformities is increasing due to the increase in instrumented spinal surgeries globally. Correcting a deformity could be challenging due to the complex anatomical and geometrical irregularities caused by previous surgeries and spine degeneration. Virtual and 3D printed models have the potential to illuminate the unique and complex anatomical-geometrical problems found in these patients. Case Presentation: We present a case report with 6-months follow-up (FU) of a 71 year old female patient with severe sagittal and coronal malalignment due to repetitive discectomy, decompression, laminectomy, and stabilization surgeries over the last 39 years. The patient suffered from severe low back pain (VAS = 9, ODI = 80). Deformity correction by performing asymmetric 3-column pedicle subtraction osteotomy (PSO) and stabilization were decided as the required surgical treatment. To better understand the complex anatomical condition, a patient-specific virtual geometry was defined by segmentation based on the preoperative CT. The geometrical accuracy was tested using the Dice Similarity Index (DSI). A complex 3D virtual plan was created for the surgery from the segmented geometry in addition to a 3D printed model. Discussion: The segmentation process provided a highly accurate geometry (L1 to S2) with a DSI value of 0.92. The virtual model was shared in the internal clinical database in 3DPDF format. The printed physical model was used in the preoperative planning phase, patient education/communication and during the surgery. The surgery was performed successfully, and no complications were registered. The measured change in the sagittal vertical axis was 7 cm, in the coronal plane the distance between the C7 plumb line and the central sacral vertical line was reduced by 4 cm. A 30° correction was achieved for the lumbar lordosis due to the PSO at the L4 vertebra. The patient ODI was reduced to 20 points at the 6-months FU. Conclusions: The printed physical model was considered advantageous by the surgical team in the pre-surgical phase and during the surgery as well. The model was able to simplify the geometrical problems and potentially improve the outcome of the surgery by preventing complications and reducing surgical time.
Attempted infanticide and suicide inaugurating catatonia associated with Hashimoto's encephalopathy: a case report
Authors: Laurence Lalanne, Marie-Emmanuelle Meriot, Elisabeth Ruppert, Marie-Agathe Zimmermann, Jean-Marie Danion, Pierre Vidailhet
Journal: BMC Psychiatry (2016)
MeSH terms: Catatonia / complications, Catatonia / psychology, Encephalitis / complications, Encephalitis / psychology, Hashimoto Disease / complications, Hashimoto Disease / psychology, Infanticide / psychology, Suicide / psychology, Case Reports, Adult, Female, Humans, Infant, Hashimoto's encephalitis

Background:
Catatonia is a neuropsychiatric syndrome with motor and behavioural symptoms. Though usually occurring in patients with schizophrenia and mood disorders, this syndrome may also be associated with neurological diseases or general medical conditions. Few cases of catatonia associated with autoimmune disorders have been described.
Case presentation:
Here, we report the case of a 27-year-old woman diagnosed with Hashimoto's encephalitis (HE) who attempted suicide and infanticide by defenestration. As she presented risk factors for postpartum psychosis, she was treated principally with antipsychotics. Despite adequate treatment for psychosis, symptoms worsened and she developed catatonia. Complementary investigations showed elevated titres of anti-thyroglobulin and anti-thyroperoxidase antibodies (200 and 10 times, respectively, as compared to normal levels) and electroencephalography were suggestive of encephalopathy. In the presence of an otherwise unexplained neuropsychiatric condition, HE was suspected and oral prednisolone was introduced. Psychiatric symptoms improved dramatically within 72 h and the patient was still free of any symptom 3 years later.
Conclusion:
Catatonia of organic aetiology should always be considered before a psychiatric aetiology especially in case of clinical worsening in spite of adequate psychotropic treatment. To our knowledge, this is the first description of catatonia associated with HE.
Experimental single-session imagery rescripting of distressing memories in bowel/bladder-control anxiety: a case series
Authors: Rosanna Pajak, Sunjeev K Kamboj
Journal: Front Psychiatry (2014)
Keywords: bladder-control anxiety, bowel-control anxiety, imagery rescripting, memory, mental imagery

Bowel and bladder obsession [bowel/bladder-control anxiety (BBCA)] is a viscerally centered phobic syndrome involving a specific concern about losing control of bowel or bladder functioning in a public place. Like other anxiety disorders, BBCA is characterized by intrusive imagery. We have previously described the nature of intrusive mental imagery in BBCA and found imagery themes to be linked to actual experiences of loss of control or to "near misses." A causal role for imagery in symptom maintenance can be inferred by examining the effects of imagery rescripting. Moreover, successful rescripting may point to a potentially efficacious avenue for treatment development. Three cases of imagery rescripting are described here with pre-, post-, and follow-up (1-week) data reported. After rescripting, two participants experienced pronounced reductions in imagery vividness, distress, shame, disgust, and belief conviction. Most importantly, all three participants experienced a reduction in fear-associated bladder and/or bowel sensations. The results support a causal role for mental imagery in bowel-bladder-control anxiety and suggest that rescripting of distressing intrusive memories linked to recurrent images may be a useful avenue for development of cognitive-behavioral treatments of bladder/bowel-control anxiety.
A Case of Acute Motor Axonal Neuropathy Mimicking Brain Death and Review of the Literature
Authors: Sandhya Ravikumar, Poysophon Poysophon, Roy Poblete, May Kim-Tenser
Journal: Front Neurol (2016)
Keywords: guillain–barré syndrome, acute motor axonal neuropathy, brain death
MeSH terms: Case Reports

We describe a case report of fulminant Guillain-Barré syndrome (GBS) mimicking brain death. A previously healthy 60-year-old male was admitted to the neurointensive care unit after developing rapidly progressive weakness and respiratory failure. On presentation, the patient was found to have absent brainstem and spinal cord reflexes resembling that of brain death. Acute motor axonal neuropathy, a subtype of GBS, was diagnosed by cerebrospinal fluid and nerve conduction velocity testing. An electroencephalogram showed that the patient had normal, appropriately reactive brain function. Transcranial Doppler (TCD) ultrasound showed appropriate blood flow to the brain. GBS rarely presents with weakness so severe as to mimic brain death. This article provides a review of similar literature. This case demonstrates the importance of performing a proper brain death examination, which includes evaluation for irreversible cerebral injury, exclusion of any confounding conditions, and performance of tests such as electroencephalography and TCDs when uncertainty exists about the reliability of the clinical exam.
Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation
Authors: Roland Stengl, Bence Ágg, Bálint Szilveszter, Kálmán Benke, Noémi Daradics, Bernadett Ruskó, Borbála Vattay, Béla Merkely, Miklós Pólos, Zoltán Szabolcs
Journal: Front Cardiovasc Med (2021)
Keywords: marfan syndrome, aneurysm, case report, follow-up, internal mammary arteries, tortuosity
MeSH terms: Case Reports

Marfan syndrome (MFS) is a genetically determined connective tissue disorder that leads to ocular, skeletal, and severe cardiovascular involvement. High mortality of MFS is associated with aortic dissection and aneurysm characteristic to the syndrome. In MFS, only a few cases of peripheral arterial involvement have been reported so far, mostly without a genetically confirmed diagnosis. We report a 41-year-old MFS patient with a saccular pearl-string-like aneurysm on the right internal mammary artery (RIMA) and a single aneurysm on the left internal mammary artery (LIMA). To our knowledge this is the first reported case on internal mammary artery aneurysms with this special morphology and with follow-up and blood pressure control as primary therapeutic approach in a patient with genetically confirmed MFS. The aneurysms with the above described morphology first appeared as small aneurysms on a CT scan 6 years after a cardiac operation. Due to the lack of guidelines, based on the asymptomatic state of the patient, the increased tortuosity of the affected vessels and the history of prior cardiac surgery, we decided to closely monitor these aneurysms with blood pressure control and without carrying out any interventions. On the CT scans done 3, 11, 12, 17, and 32 months after identifying the aneurysms, no progression of these structures was detected. Our findings confirm the possibility of the occurrence of internal mammary artery aneurysms in patients with FBN1 mutation and we believe that monitoring these aneurysms with blood pressure management can be a suitable option in selected cases.
Resection of Bilateral Symmetrical Multiple Level Cervical Ganglioneuroma in a 43-Year-Old Man, a Probable Case of Neurofibromatosis Type-1: Report of a Case and Review of Literature
Authors: Seyed Reza Mousavi, Mohammadhadi Amirshahpari Motlagh, Fatemeh Karimi, Bahareh Ebrahimi
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Ganglioneuroma is a benign tumor, originating from sympathetic nervous system. Intradural and dumbbell shape spinal ganglioneuroma has been reported in the literature. In this study, we intend to present our case, a 43-year-old man with multiple cutaneous dimples-probably a Neurofibromatosis type-1 (NF-1) case-and subacute myelopathy, who presented with bilateral symmetric dumbbell shape C2/C3 and C4/C5 intradural extramedullary tumors. After resection, the pathologic feature was revealed as ganglioneuroma. We also reviewed the literature for similar cases, which revealed our case to be the 9th bilateral and symmetrical spinal GN, all of which in cervical region; the 5th involving multiple level (the 3rd multiple bilateral symmetrical involvement), the 3rd extending intradurally, and the first case of involving all cervical nerve root ganglions in different sizes. Bilateral symmetrical spinal GNs have also appeared to have different body location, geographic, and gender distribution.
Management of Glioblastoma Multiforme in a Patient Treated With Ketogenic Metabolic Therapy and Modified Standard of Care: A 24-Month Follow-Up
Authors: Ahmed M A Elsakka, Mohamed Abdel Bary, Eman Abdelzaher, Mostafa Elnaggar, Miriam Kalamian, Purna Mukherjee, Thomas N Seyfried
Journal: Front Nutr (2018)
Keywords: warburg effect, calorie restriction, chloroquine, epigallocatechin gallate, glioblastoma, hyperbaric oxygen, ketogenic diet, therapeutic ketosis
MeSH terms: Case Reports

Few advances have been made in overall survival for glioblastoma multiforme (GBM) in more than 40 years. Here, we report the case of a 38-year-old man who presented with chronic headache, nausea, and vomiting accompanied by left partial motor seizures and upper left limb weakness. Enhanced brain magnetic resonance imaging revealed a solid cystic lesion in the right partial space suggesting GBM. Serum testing revealed vitamin D deficiency and elevated levels of insulin and triglycerides. Prior to subtotal tumor resection and standard of care (SOC), the patient conducted a 72-h water-only fast. Following the fast, the patient initiated a vitamin/mineral-supplemented ketogenic diet (KD) for 21 days that delivered 900 kcal/day. In addition to radiotherapy, temozolomide chemotherapy, and the KD (increased to 1,500 kcal/day at day 22), the patient received metformin (1,000 mg/day), methylfolate (1,000 mg/day), chloroquine phosphate (150 mg/day), epigallocatechin gallate (400 mg/day), and hyperbaric oxygen therapy (HBOT) (60 min/session, 5 sessions/week at 2.5 ATA). The patient also received levetiracetam (1,500 mg/day). No steroid medication was given at any time. Post-surgical histology confirmed the diagnosis of GBM. Reduced invasion of tumor cells and thick-walled hyalinized blood vessels were also seen suggesting a therapeutic benefit of pre-surgical metabolic therapy. After 9 months treatment with the modified SOC and complimentary ketogenic metabolic therapy (KMT), the patient's body weight was reduced by about 19%. Seizures and left limb weakness resolved. Biomarkers showed reduced blood glucose and elevated levels of urinary ketones with evidence of reduced metabolic activity (choline/N-acetylaspartate ratio) and normalized levels of insulin, triglycerides, and vitamin D. This is the first report of confirmed GBM treated with a modified SOC together with KMT and HBOT, and other targeted metabolic therapies. As rapid regression of GBM is rare following subtotal resection and SOC alone, it is possible that the response observed in this case resulted in part from the modified SOC and other novel treatments. Additional studies are needed to validate the efficacy of KMT administered with alternative approaches that selectively increase oxidative stress in tumor cells while restricting their access to glucose and glutamine. The patient remains in excellent health (Karnofsky Score, 100%) with continued evidence of significant tumor regression.
Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report
Authors: Sha Lin, Xintian Hua, Jinrong Li, Yifei Li
Journal: Front Cardiovasc Med (2022)
Keywords: pklr, case report, genomic sequence, persistent pulmonary hypertension in the neonate, pyruvate kinase deficiency
MeSH terms: Case Reports

Background:
Pulmonary hypertension could be associated with pyruvate kinase deficiency (PKD). There are few reported cases of PPHN as the first clinical manifestation of PKD. Herein we report a rare case of PKD in which the patient exhibited persistent pulmonary hypertension in the neonate (PPHN), and genetic testing helped to rapidly identify an potential association.
Case presentation:
The patient was a newborn boy who suffered from severe dyspnea, extreme anemia, skin pallor, and hypoxemia. Repeated echocardiography indicated persistent severe pulmonary hypertension with a calculated pulmonary artery pressure of 75 mmHg, and right ventricular hypertrophy. The administration of nitric oxide significantly reduced the pulmonary artery pressure. Whole-exome sequencing revealed a compound heterozygous mutation consisting of c.707T > G and c.826_827insAGGAGCATGGGG. PolyPhen_2 and MutationTaster indicated that both the c.707T > G (probability 0.999) and c.826_827insAGGAGCATGGGG (probability 0.998) mutations were disease causing. PROVEAN protein batch analysis indicated that the associated p.L236R region was deleterious (score -4.71) and damaging (SIFT prediction 0.00), and this was also the case for p.G275_V276insEEHG (deleterious score -12.00, SIFT prediction 0.00). Substantial structural changes in the transport domain of the protein were predicted using SWISS-MODEL, and indicated that both mutations led to an unstable protein structure. Thus, a novel compound heterozygous mutation of PKLR-induced PKD with PPHN was diagnosed.
Conclusion:
The current study suggests that molecular genetic screening is useful for identifying PPHN, particularly in children with metabolic disorders. In patients exhibiting unexplained hyperbilirubinemia combined with severe pulmonary hypertension, PKD might be a potential possible alternative explanation. Genetic screening is helpful for identifying genetic causes of pulmonary hypertension, especially in patients with PPHN. This report expands the mutation spectrum of the PKLR gene, and contributes to the genotype-phenotype map of PKD.
Case Report: Rectal perforation during CT colonography
Authors: Marianna Zukiwskyj, Yasser Arafat
Journal: F1000Res (2016)
Keywords: ct colonography, ctc, rectal perforation

Introduction Computer tomography colonoscopy (CTC) is an increasingly prevalent procedure for the investigation of colorectal symptoms, or as a component of colorectal cancer screening. It is considered a low risk procedure, however colonic perforation is a recognized significant complication. Case Report We report the case of an 81-year-old female patient who underwent CTC after failed optical colonoscopy as part of routine colorectal cancer screening. Perforation of the rectum with surrounding pararectal air was confirmed on CTC. The patient had minimal symptoms and was treated successful non-operatively with bowel rest and antibiotics. Conclusion Perforation sustained during CTC is an uncommon complication. The incidence of perforation during CTC is still lower than that during optical colonoscopy. In the absence of significant abdominal signs and symptoms, this rare complication may be successfully managed non-operatively.