OpenMed/multicare-articles huggingface dataset:
Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation
Authors: Huan Wu, Long Wu, Quan Zhang, Bao-Fang Zhang
Journal: Front Genet (2023)
Keywords: crigler-najjar syndrome, pklr, ugt1a1, case report, next-generation sequencing, pyruvate kinase deficiency
MeSH terms: Case Reports

Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia. On the other hand, Crigler-Najjar syndrome (CNS-II) is characterized by the loss or reduced activity of UDP-glucuronosyltransferase, resulting in elevated levels of unconjugated bilirubin, which is the primary cause of disease manifestation. To date, there have been no reported cases of patients with both conditions. In this case report, we present the unique clinical course of a 15-year-old Chinese patient with both PKD and CNS-II. The patient was admitted for evaluation of hyperbilirubinemia and exhibited yellowish skin color, icteric sclera, and splenomegaly upon physical examination. Extensive laboratory examinations ruled out viral, hemolytic, autoimmune, and inborn or acquired metabolic etiologies of liver injury. Histopathological findings indicated benign recurrent intrahepatic cholestasis (BRIC) and hemosiderosis. Surprisingly, targeted next-generation sequencing (NGS) of the patient's blood did not reveal any mutation sites associated with BRIC. Instead, it identified a novel homozygous pathogenic variant of the PKLR gene [c.1276C>T (p.Arg426Trp)] and a rare heterozygous variant of UGT1A1 gene [c.-55_-54insAT, c.1091C>T (p.Pro364Leu)]. These findings strongly suggest a diagnosis of PKD and CNS-II in the patient. Treatment with 500 mg/day of ursodeoxycholic acid proved to be effective, rapidly reducing the patient's total bilirubin levels and shortening the symptomatic period. This case highlights the importance of genetic diagnosis in accurately identifying the underlying cause of hyperbilirubinemia, especially in patients with rare hereditary diseases. Furthermore, NGS can provide valuable insights into the genotype-phenotype correlation of PKD and CNS-II.
Case report: Page kidney with multiple serosal effusions caused by bilateral spontaneous renal subcapsular hemorrhage
Authors: Leibo Wang, Zuze Qiu, Shun Zhan, Guanyu Shi, Wei He, Zhuangding Cen, Feng Xu, Wu Tian, Daobing Li
Journal: Front Med (Lausanne) (2024)
Keywords: page kidney, multiple serous cavity effusion, renal insufficiency, secondary hypertension, subcapsular hematoma
MeSH terms: Case Reports

Page kidney is caused by the perirenal or subcapsular accumulation of blood or fluid pressing on the renal parenchyma and is a rare cause of secondary hypertension. In this study, we report a case of Page caused by bilateral spontaneous subcapsular renal hematoma, the main manifestations of which were secondary hypertension, multiple serous effusions, and renal insufficiency. After admission, drug blood pressure control was ineffective. After bilateral perirenal effusion puncture and drainage were performed to relieve bilateral perirenal compression, blood pressure gradually dropped to normal, multi-serous cavity effusion (pericardial, thoracic, and abdominal effusion) gradually disappeared, and kidney function returned to normal. Secondary hypertension caused by Page kidney can be treated. When Page kidney is complicated with multiple serous effusions, the effect of antihypertensive drugs alone is poor, and early perineal puncture drainage can achieve better clinical efficacy.
Case report: Intrathecal baclofen therapy improved gait pattern in a stroke patient with spastic dystonia
Authors: Kyung Min Kim, Tae Kwon Lee, Su Min Lee, Won Seok Chang, Su Ji Lee, Jihye Hwang, Sung-Rae Cho
Journal: Front Neurol (2024)
Keywords: baclofen, gait analysis, intrathecal baclofen, muscle hypertonia, spastic dystonia, stroke
MeSH terms: Case Reports

Background:
Intrathecal baclofen (ITB) therapy, a viable alternative for unsuitable candidates of conventional spasticity medications, is a preferred method of administration over the oral route. Owing to its enhanced bioavailability, ITB ensures a more effective delivery at the target site.
Objective:
There is a lack of conclusive evidence regarding the use of ITB treatment in managing ambulatory patients with spastic dystonia. Before ITB pump implantation, patients commonly undergo an ITB bolus injection trial to rule out potential adverse reactions and verify the therapeutic effects on hypertonic issues. In this report, we highlight a case of spastic dystonia, particularly focusing on an ambulatory patient who demonstrated significant improvement in both the modified Ashworth scale (MAS) score and gait pattern following the ITB injection trial.
Case report:
This case report outlines the medical history of a 67-year-old male diagnosed with left-side hemiplegia and spastic dystonia, resulting from his second episode of intracranial hemorrhage in the right thalamus. An ITB injection trial was initiated because the patient was not suitable for continued botulinum toxin injections and oral medications. This was due to the persistent occurrence of spastic dystonia in both the upper and lower extremities. The patient underwent a four-day ITB injection trial with progressively increasing doses, resulting in improved MAS scores and gait parameters, including cadence, step length, step time, stride length, and stride time were increased. Particularly, kinematic gait analysis demonstrates a substantial improvement of increased knee flexion in the swing phase in stiff knee gait pattern. These findings indicated a gradual reduction in spasticity-related symptoms, signifying the positive effect of the ITB injection trial. The patient eventually received an ITB pump implantation.
Conclusion:
In this post-stroke patient with spastic dystonia, ITB therapy has demonstrated effective and substantial management of spasticity, along with improvement in gait patterns.
Acute kidney injury in an HIV patient with plasmablastic lymphoma - A double-edged sword
Authors: Gerhard van Wyk, Liezel Coetzee, Mogamat-Yazied Chothia
Journal: S Afr J Infect Dis (2024)
Keywords: hiv, acute kidney injury, cast nephropathy, light chains, tumour infiltration
MeSH terms: Case Reports

HIV patients frequently develop acute kidney injury (AKI) because of sepsis and diarrhoeal disease. Here, we report a case of an HIV-positive man with partially treated sinonasal plasmablastic lymphoma (PBL) and unexplained AKI. A kidney biopsy revealed two pathological processes.
Contribution:
While urinary tract obstruction is the most common mechanism by which PBL causes AKI, maintaining a high level of suspicion for multiple pathological processes in cases involving light chain producing PBL.
A Dermoid Cyst of the Head, Neck, and Face Region: A Case Report
Authors: Padmashri P Kalmegh, Swati K Patil, Alka Hande, Archana M Sonone, Sakshi Akolkar, Aayushi Pakhale
Journal: Cureus (2024)
Keywords: benign neoplasm, congenital dermoid inclusion, dermoid cyst, malignant transformation, midface abnormalities
MeSH terms: Case Reports

Dermoid cyst (DC), a rare benign tumor of developmental origin that develops from mesoderm and ectoderm, is frequently identified in children. DC refers to three cysts that are histologically related, namely, DC, epidermoid cyst, and teratoma. About 70% of DCs are discovered in children aged five years or younger, with the majority being congenital. DC of the head and neck are rare, accounting for only 7% of all such cysts. DC, or benign cutaneous tumors, tend to grow and persist. The presence of epithelial cells along the lines of embryonic closure results in a DC. It is always difficult to properly diagnose these lesions using clinical tests and conventional radiography. Histologically, a DC must have two germ cell layers, and the diagnosis can only be made with pathologic confirmation. Specialized imaging tests including CT, MRI, ultrasonography, and histological examinations should be performed to make a diagnosis and choose the best course of action for surgery.
Case report: Anti-ARHGAP26 autoantibodies in atypical dementia with Lewy bodies
Authors: Niels Hansen, Kristin Rentzsch, Sina Hirschel, Jens Wiltfang, Björn Hendrik Schott, Claudia Bartels, Claudia Lange, Caroline Bouter
Journal: Front Dement (2023)
Keywords: arhgap26 autoantibodies, alzheimer's dementia, autoimmunity, cognition, dementia with lewy bodies
MeSH terms: Case Reports

Background:
Dementia with Lewy bodies (DLB) is the second most common type of neurodegenerative dementia. Here, we report a case of dementia associated with anti-Rho-GTPase-activating protein 26 (ARHGAP26) autoantibodies, which have never been previously linked to DLB.
Methods:
We describe the case of a 78-year-old man who underwent cerebrospinal fluid (CSF) analysis, magnetic resonance imaging (MRI), 18F-fluorodesoxyglucose positron emission tomography (FDG-PET), and a detailed neuropsychological evaluation.
Results:
The patient presented with mild dementia syndrome associated with extrapyramidal symptoms. Neuropsychological testing revealed impaired cognitive flexibility, figural memory, and verbal memory. Fluctuating cognitive abilities with deficits in attention-executive dysfunction and visuoconstruction also developed over time. A brain MRI showed reduced biparietal and cerebellar brain volume with generalized accentuation of the outer CSF spaces. The patient's CSF revealed anti-ARHGAP26 autoantibodies, which were also detectable in serum. In the differential complementary imaging diagnosis at 2 years, an FDG-PET revealed decreased occupancy of the posterior cingulum and precuneus. Although the FDG-PET, MRI, and clinical findings were potentially consistent with Alzheimer's disease, negative amyloid biomarkers in the CSF made an AD diagnosis highly unlikely. Single photon emission computed tomography (SPECT) with [(123)I] N-omega-fluoropropyl-2beta-carbomethoxy-3beta-{4-iodophenyl}nortropane ([(123)I]FP-CIT) showed right-sided predominance, reduced dopamine transporter uptake in the putamen, consistent with a positive indicative biomarker finding typical of DLB. Considering the clinically probable DLB associated with the two core features of Parkinsonism and fluctuating cognition with deficits in attention, supported by an abundant tracer uptake in the right putamen and lower uptake in the left putamen on 123I-FP-CIT-SPECT as an indicative biomarker, we started an antidementia drug using a cholinesterase inhibitor.
Conclusions:
Our report shows that atypical DLB may be associated with anti-ARHGAP26 autoantibodies, although their role and significance in the pathogenesis of DLB are unknown. However, it has to be mentioned that it is also possible that antibody-specific synthesis of anti-ARHGAP26 autoantibodies is a hallmark of a rare autoimmune disease that may cause the clinical and laboratory features involving altered dopamine transporter uptake on 123I-FP-CIT-SPECT, dementia, and mild Parkinson's symptoms rather than idiopathic DLB with only two core DLB features and inconsistent cognitive and imaging findings. Further research is needed to investigate the role of these autoantibodies in different dementias, particularly in DLB and mixed DLB-AD types.
The "Little-Old-Lady's Hernia", Obturator Hernia: A Case Report and Literature Review
Authors: Enrique Salazar-Rios, Alexa Cruz Olascoaga
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Obturator hernias, though rare, are clinically significant abdominal hernias, predominantly affecting elderly, thin women, with an estimated prevalence of less than 1%. The primary treatment involves surgical intervention to reduce and repair the defect, either through laparotomy or laparoscopy, with bowel resection needed in up to 75% of patients. Here, we present the case of an 83-year-old woman presenting with abdominal pain and a history of constipation. An abdominal computed tomography scan demonstrated a left obturator hernia with small bowel obstruction. Successful reduction of the hernia was achieved, albeit requiring intestinal resection via an open surgical approach. Subsequently, the patient achieved complete recovery.
Complete remission in a patient with sinonasal squamous cell carcinoma receiving neoadjuvant tislelizumab plus chemotherapy: a case report
Authors: Fang Chen, Hongzheng Zhang, Yonghe Li, Tingfeng Liang, Tao Zhang
Journal: Front Immunol (2024)
Keywords: immune checkpoint inhibitor, immunotherapy, pathological complete response, sinonasal squamous cell carcinoma, tislelizumab
MeSH terms: Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Neoadjuvant Therapy, Case Reports, Carcinoma, Squamous Cell / drug therapy, Cisplatin / administration & dosage, Cisplatin / therapeutic use, Docetaxel / administration & dosage, Docetaxel / therapeutic use, Humans, Male, Middle Aged, Paranasal Sinus Neoplasms / drug therapy, Remission Induction, Treatment Outcome, Antibodies, Monoclonal, Humanized, tislelizumab, Cisplatin, Docetaxel

Sinonasal squamous cell carcinoma (SNSCC) is the most common, high-aggressive sinonasal malignancies that have remained relatively stable poor outcomes over the past decade. As a first-line treatment for SNSCC, surgery plus adjuvant radiotherapy is recommended. However, complete surgical resection may not be appropriate due to the proximity of the nasal cavity and sinuses to key structures such as orbit or intracranial. Currently, immune checkpoint inhibitors (ICIs) have been established as one of the first-line therapies for many solid tumors with unresectable stage. However, evidence on the efficacy of ICIs in sinonasal malignancy is scarce and no ICIs are approved for use in SNSCC up to day. In this report, we report a case of a 64-year-old man with SNSCC treated by multi-protocol exploration. The patient achieved pathological complete response (pCR) after receiving two cycles of Docetaxel and cisplatin combined with tislelizumab. To the best of our knowledge, this is the first case of SNSCC treated with tislelizumab that achieved pCR. This case offers real-world evidence that chemotherapy plus immunotherapy is a promising treatment for SNSCC.
Case report: Consecutive hyperbaric oxygen therapy for delayed post-hypoxic leukoencephalopathy resulting from CHANTER syndrome caused by opioid intoxication
Authors: Naoto Jingami, Kosai Cho, Takayuki Nitta, Miwa Takatani, Katsuya Kobayashi, Ryo Takenaka, Naoko Sugita, Shigeru Ohtsuru
Journal: Front Med (Lausanne) (2024)
Keywords: carbon monoxide, delayed neurological sequelae, delayed post-hypoxic leukoencephalopathy, hyperbaric oxygen therapy, opioid intoxication
MeSH terms: Case Reports

Delayed post-hypoxic leukoencephalopathy (DPHL) is a poorly recognized syndrome characterized by neuropsychiatric symptoms following recovery from an acute hypoxic episode. Although most cases are related to carbon monoxide poisoning, some have been linked to excessive opioid use. Opioid intoxication has recently become known for manifesting the characteristic imaging findings involving cerebellar, hippocampal, and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome. Herein, we present a patient with severe disturbances in consciousness who was initially diagnosed with CO poisoning but was later found to have taken excessive tramadol. Magnetic resonance imaging (MRI) in the acute phase revealed abnormal intensities in the bilateral globus pallidus and the cerebellum, indicative of CHANTER syndrome. After intensive care, his level of consciousness was restored. However, around the 3rd week after hospitalization, his consciousness gradually deteriorated and he developed severe neurological symptoms. Another MRI on day 25 revealed a new diffuse white matter abnormality; DPHL was suspected. Cerebrospinal fluid collected on day 28 revealed significantly elevated myelin basic protein levels. Although it was challenging to decide on a treatment plan, hyperbaric oxygen (HBO) therapy trials were initiated on day 58; the patient's condition improved after a series of HBO sessions. MRI revealed gradual shrinkage of the white matter abnormality. A total of 63 consecutive HBO sessions were performed, leading to the successful resolution of the serious neurological symptoms. While the effectiveness of HBO therapy for DPHL remains inconclusive, especially in opioid-related cases, this patient made a remarkable recovery, likely due to the therapeutic effect of improved cerebral blood flow and oxygenation.
Computed Tomography Findings in a Case of Uterine Rupture as a Complication of Pyometra
Authors: Fadhila Mohd Hanapiah, Zul Khairul Azwadi Ismail, Othman Puteh, Mohd Ezane Aziz
Journal: Cureus (2024)
Keywords: pneumoperitoneum, pneumoretroperitoneum, pyometra, pyometra rupture, uterine rupture
MeSH terms: Case Reports

Uterine rupture in the setting of pyometra is a rare occasion, with an incidence of less than 0.5%. The clinical manifestation of a perforated pyometra is non-specific; therefore, it can mimic many other causes of acute abdomen, such as perforated viscus, acute appendicitis, or diverticulitis, which poses unique challenges to diagnosis solely based on clinical information. We reviewed a case of an elderly postmenopausal lady who presented with a sudden onset of generalized abdominal pain, preceded by fever and vomiting. Physical examination revealed a distended abdomen with clinical signs of peritonism. She was initially diagnosed with possible obstructed gastrointestinal carcinoma by clinical examination, with the differential diagnosis of diverticular abscess. Eventually, further abdominal and pelvic contrast-enhanced computed tomography (CECT) study revealed a pyometra with uterine rupture, complicated with pneumoretroperitoneum and pneumoperitoneum. This case emphasizes the value of a CT scan in establishing an accurate diagnosis and early detection of life-threatening complications, such as uterine rupture, as in this case.
Traumatic optic neuropathy from an air gun pellet injury: a case report
Authors: Iqra Anis, Muhammad Akbar Baig
Journal: Oxf Med Case Reports (2024)
MeSH terms: Case Reports

Orbital apex fractures are a debilitating condition that can cause vision problems and are often associated with intracranial injury. Traumatic Optic Neuropathy (TON), which results in vision loss following a traumatic injury to the optic nerve, can be caused by various mechanisms, but most cases involve injuries to the globe, orbit, or adnexa. We are reporting a case of an 18 year old male with a history of an air gun being accidentally discharged into his left eye. He was evaluated and found to have an Orbital apex fracture with left eye TON. Patient was administered high dose steroids. Detailed evaluation by Ophthalmology revealed a left eye traumatic stage I macular hole which was conservatively treated with visual improvement reported during patient follow up.
Graves' disease with only unilateral involvement; a case report
Authors: Mohammed Saad Bu Bshait
Journal: Int J Surg Case Rep (2024)
Keywords: case report, hyperthyroidism, unilateral graves' disease
MeSH terms: Case Reports

Introduction:
Graves' disease characteristically presents with a diffuse goiter secondary to the autoantibodies that target the thyrotropin receptors of the thyroid gland. Few cases have been reported of only one of the two lobes being affected. The cause of this phenomenon is still uncertain. Here we report on another case of unilateral Graves' disease.
Case presentation:
A 43-year-old female patient presented with a history of weight loss, palpitations and right sided neck swelling for 4 months. Clinical examination showed an enlarged right thyroid lobe. Laboratory investigations yielded evidence of thyrotoxicosis with suppressed thyroid stimulating hormone. In addition, anti-TSH receptor and anti-thyroperoxidase antibodies were positive. Neck Ultrasound showed an enlarged right thyroid lobe with increased vascularization. The isthmus and left lobe were both normal in size. A Tc99m pertechnetate thyroid scan demonstrated enlargement of the right thyroid lobe with diffuse intense uptake, whereas the left lobe was suppressed. A diagnosis of unilateral Graves' disease was made. The thyrotoxicosis was treated and maintained with methimazole.
Discussion:
Unilateral Graves' disease is a rare manifestation of Graves' disease, sharing the same autoimmune background and the symptoms of thyrotoxicosis. Enlargement of only one lobe was evident on clinical examination. The distinctive feature was unilateral uptake during thyroid scintigraphy. The exact pathophysiology of this condition has yet to be elucidated. Management options and responses are similar to those of classical Graves' disease.
Conclusion:
Unilateral uptake during thyroid scintigraphy and/or unilateral lobar goiter in the setting of hyperthyroidism can be the presentation of unilateral Graves' disease.
Full-thickness scalp and skull defect with dura mater exposure due to dissociation of pain sensation and anankastic personality disorder: a case report
Authors: Martynas Tamulevicius, Peter M Vogt, Vincent Maerz
Journal: Case Reports Plast Surg Hand Surg (2023)
Keywords: scalp defect, anankastic personality disorder, chronic self-mutilation, skull defect
MeSH terms: Case Reports

Our case demonstrates a rare genesis of complex scalp defect with exposed dura mater in the occipital region due to self-mutilation. An early interdisciplinary approach is vital to prevent secondary complications and potentially fatal outcomes, particularly in psychiatric patients with reduced health awareness.
Case report: A case of rare metastasis of gastric cancer to the axillary lymph node metastasis treated with combination immunotherapy
Authors: Jin Wang, Yu Cheng, Yulin Wang, Hengxin Liu, Shuang Wu, Guangwei Tian, Jinglei Qu, Xiujuan Qu
Journal: Front Immunol (2024)
Keywords: epstein-barr virus, axillary lymph, case report, gastric cancer, immunotherapy
MeSH terms: Epstein-Barr Virus Infections / complications, Stomach Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Herpesvirus 4, Human, Humans, Immunotherapy, Lymph Nodes / metabolism, Lymphatic Metastasis

Lymph node (LN) metastasis is a common mode of metastasis in advanced gastric cancer (GC), while axillary LN metastasis infrequently occurs in GC. There are few reports on this rare type of metastasis - especially its clinicopathological features - and systemic treatment are unclear. We describe a case of GC with extensive metastasis, including the rare axillary LN metastasis. The patient achieved partial response of optimal efficacy, who was treated with combination immunotherapy as second-line treatment for nearly two years. The potential mechanisms were revealed by clinical and immune characteristics, such as high expression of PD-L1, high tumor mutational burden (TMB-H), Epstein-Barr virus (EBV) positive and CD8+ tumor-infiltrating lymphocyte positive.
Clostridium paraputrificum Bacteremia and Ectopic Ileal Varices in Underlying Chronic Portal and Superior Mesenteric Vein Thrombosis: Report of a Rare Case
Authors: Grigorios Smanis, Eirini Avgoustou, Ioannis Papadopoulos, Antonios Papadopoulos, Athanasios Athanasakos, Elias Athanasiadis, Foula Vassilara
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Ischemic bowel disease is considered a high-risk factor for infection from anaerobic bacteria, as the ischemic bowel is the perfect ground for their development. Herein, we present the case of an advance stage colon cancer patient with a rare cause of gastrointestinal bleeding and bacteremia due to Clostridium paraputrificum, a rare anaerobic Gram-positive bacterium. The patient had presented with several episodes of hematochezia in the context of chronic superior mesenteric-portal vein tumor thrombosis and rupture of ectopic varices, and the bacteremia was an unexpected complication of the bowel ischemia due to a combination of arterial ischemia and venous congestion.