OpenMed/multicare-articles huggingface dataset:
Progressive Multifocal Encephalopathy Holmes Tremor Successfully Treated with Bilateral Deep Brain Stimulation
Authors: Talita D Rosa, Laura Dixon, Muhammad Ismail Khalid Yousaf, Victoria Holiday, Ajmal Zemmar, Joseph Neimat, Peter Hedera
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: deep brain stimulation, homes tremor, rubral tremor, tremor
MeSH terms: Brain Diseases, Deep Brain Stimulation, Case Reports, Activities of Daily Living, Humans, Male, Middle Aged, Prostate-Specific Antigen, Tremor / therapy, Prostate-Specific Antigen

Background:
We report a patient with bilateral HT treated with DBS.
Case report:
A 58-year-old man diagnosed with HIV/AIDS and progressive multifocal leukoencephalopathy (PML) presented with 20 years of bilateral arm tremor refractory to therapy. DBS was implanted on the left ventral intermediate nucleus and posterior subthalamic area (VIM/PSA). One year later, a right VIM/PSA DBS was implanted. At twelve months, there were no significant side-effects. With his DBS turned off and on, the Fahn-Tolosa-Marin scale was rated 82 and 58, respectively.
Discussion:
To our knowledge, this is the first report of bilateral DBS VIM/PSA treating HT with no significant side effects.
Highlights:
We report a successful treatment using deep brain stimulation of bilateral Holmes tremor that was caused by progressive multifocal encephalopathy. The patient achieved 30% improvement in tremor control with a meaningful improvement in his activities of daily living.
Case report: Is severe toxicity the price to pay for high sensitivity to checkpoint inhibitors immunotherapy in desmoplastic melanoma?
Authors: Teresa Squicciarini, Rossella Villani, Benedetta Apollonio, Livia Fucci, Milena Zambetti, Michele Rossini, Rosamaria Pinto, Stefania Tommasi, Ileana De Roma, Sabino Strippoli, Michele Guida
Journal: Front Immunol (2024)
Keywords: case report, checkpoint immunotherapy, desmoplastic melanoma, irae, multi-organ toxicity, renal toxicity
MeSH terms: Immune Checkpoint Inhibitors / adverse effects, Immune Checkpoint Inhibitors / therapeutic use, Melanoma / drug therapy, Melanoma / immunology, Case Reports, CTLA-4 Antigen / antagonists & inhibitors, Humans, Immunotherapy / adverse effects, Immunotherapy / methods, Male, Middle Aged, Programmed Cell Death 1 Receptor / antagonists & inhibitors, Skin Neoplasms / drug therapy, Skin Neoplasms / immunology, Treatment Outcome, Immune Checkpoint Inhibitors, CTLA-4 Antigen, CTLA4 protein, human, Programmed Cell Death 1 Receptor

Background:
Desmoplastic melanoma (DM) is a rare subtype of melanoma characterized by high immunogenicity which makes it particularly suitable for immune checkpoint inhibitors (ICIs) treatment.
Case presentation:
We report the case of a 53-year-old man with metastatic DM successfully treated with the combination of anti-CTLA-4 and anti-PD-1 antibodies, who developed serious immune-related adverse events (irAEs). The primary tumor was characterized by absent PD-L1 expression and no-brisk lymphocytes infiltration. NGS showed absence of BRAF mutation, a high tumor mutational burden, and an UV-induced DNA damage signature. Metastatic lesions regressed rapidly after few cycles of ICIs until complete response, however the patient developed serious irAEs including hypothyroidism, adrenal deficiency, and acute interstitial nephritis which led to the definitive suspension of treatment. Currently, the patient has normal renal functionality and no disease relapse after 26 months from starting immunotherapy, and after 9 months from its definitive suspension.
Conclusion:
Efficacy and toxicity are two sides of the same coin of high sensitivity to ICIs in DM. For this reason, these patients should be closely monitored during ICIs therapy to promptly identify serious side effects and to correctly manage them.
Case Report: Contiguous presentation of anti-MDA5 juvenile dermatomyositis and anti-AQP4 neuromyelitis optica spectrum disorder in an adolescent patient
Authors: Rebecca E Wiersma, Zachary R Shaheen, Colleen K Correll, Patricia M Hobday
Journal: Front Pediatr (2024)
Keywords: anti-aquaporin-4, anti-melanoma differentiation-associated proteins 5, case report, dermatomyositis, juvenile dermatomyositis, neuromyelitis optica spectrum disorder
MeSH terms: Case Reports

Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory disorder of the central nervous system (CNS) that is known to be associated with other neurologic and organ-specific autoimmune conditions. There has been increasing recognition of the association between NMOSD and systemic autoimmune disease, most commonly systemic lupus erythematosus and Sjogren's syndrome. We report a case of an adolescent presenting with anti-melanoma differentiation-associated protein 5 juvenile dermatomyositis (anti-MDA5 JDM) and NMOSD, exhibiting clinical features of myelitis, polyarthritis, myositis, and skin involvement. Currently, only two other published cases have described NMOSD associated with anti-MDA5 dermatomyositis, both in adults. To the best of our knowledge, this is the first reported case in an adolescent patient.
Harmonizing Dentofacial Balance: A Comprehensive Exploration of Class 1 Malocclusion Resolution With Impacted Maxillary Central Incisor Management
Authors: Nishu Agarwal, Pallavi Daigavane, Ranjit Kamble, Dhwani Suchak, Mrudula Shinde
Journal: Cureus (2024)
Keywords: class 1 malocclusion, comprehensive treatment, impacted teeth, multidisciplinary approach, supernumerary tooth
MeSH terms: Case Reports

Permanent maxillary central incisor impaction is generally a rare phenomenon. Because the anterior teeth have a huge impact on a patient's facial aesthetics, missing anterior teeth are of major concern to patients who seek orthodontic treatment. However, correcting this type of malocclusion poses a challenge to the orthodontist. This case report of a 16-year-old male patient with an impacted maxillary right central incisor takes us through a series of events that are necessary to treat this type of malocclusion. The presenting case also had an impacted supernumerary tooth which was the primary cause for permanent tooth impaction. A combined treatment approach is usually needed to manage this type of case involving both the orthodontist and the surgeon.
Primary Yolk Sac Tumor of the Liver: A Rare Cause of Bile Duct Obstruction
Authors: Sahil M Patel, Kenneth M Sigman, Mohannad F Dugum
Journal: Case Rep Gastrointest Med (2024)
MeSH terms: Case Reports

Primary yolk sac tumor (YST) of the liver is an extremely rare extragonadal germ cell tumor. Here, we present a case of a young man who developed primary YST of the liver which metastasized to periductal lymph nodes causing bile duct obstruction. A 32-year-old male was referred from an outside hospital for evaluation of painless jaundice. Initial investigation showed common bile duct compression from periductal lymph nodes. Inital biopsy results were concerning for adenocarcinoma. The patient was ultimately diganosed with primary YST of the liver. He was then started on a curative-intent chemotherapy regimen of bleomycin, etoposide, and cisplatin. This case highlights the importance of keeping the primary YST of the liver on the differential diagnosis as initial staining patterns are similar to adenocarcinoma which has a very different management.
Histopathological Examination of Lung Necropsy of 11 Patients Who Died Due to COVID-19: A Case Series
Authors: Bahram Nikkhoo, Karim Naseri, Ramyar Rahimi Darehbagh, Mehrdad Habiby, Bahar Moasses-Ghafari
Journal: Iran J Pathol (2024)
Keywords: covid-19, iran, lung, necropsy, pathology
MeSH terms: Case Reports

COVID-19 is known to present with acute respiratory distress syndrome pathological manifestations. Studies have shown that patients with COVID-19 can develop diffuse alveolar damage, acute bronchopneumonia, necrotic bronchiolitis, and viral pneumonia. In this study, we investigated 11 cases. Needle necropsies of 11 patients, hospitalized at Tohid and Kowsar hospitals of Kurdistan University of Medical Sciences, with a positive antemortem SARS-CoV-2 (COVID-19) real-time PCR test, were fixated within 3 hours after death in the negative-pressure isolation morgue. The participants included six men (54%) and five women (46%) with a mean age of 73.82±10.58 (52-86) years old. The average hospitalization was 14.27±15.72 days. The results showed interstitial lymphocytic pneumonitis in most of the cases, varied from mild to moderate and up to severe in some cases. In 7 cases, anthracosis was noted, while one case demonstrated anthracosis with fibrosis. The hyaline membrane was reported in two patients. In one case, severe interstitial lymphocytic pneumonia with intra-alveolar exudate with organization, lithiasis, bronchiolitis pattern (BOOP), intra-alveolar hemorrhage, and mild fibrosis were seen. As a result, it is suggested to keep an eye on these pathologies in management of the severe cases of COVID-19 infection.
Transoral balloon kyphoplasty in a myeloma patient with painful osseous destruction of the corpus vertebrae axis
Authors: Julian Ramin Andresen, Harald Widhalm, Reimer Andresen
Journal: J Surg Case Rep (2024)
Keywords: interventional pain management, multiple myeloma, osseous destruction, pathological fracture, quality of life, transoral balloon kyphoplasty
MeSH terms: Case Reports

Multiple myeloma is the most common primary malignant disease of the spine, which can lead to pathological fractures with consecutive instability and immobilizing pain, due to osseous destruction of individual vertebral bodies. The different surgical care is challenging, although good stabilization should be achieved if possible. The resulting blocking of micro-movements leads to pain minimization. However, this is a symptomatic therapy and does not address the primary disease. In the following, we report on successful transoral balloon kyphoplasty for the treatment of myeloma-related osteolysis with a pathological fracture of vertebral body C2, which led to a significant clinical improvement.
Twelve-Year Follow-Up of Laser Frenectomy during Early Mixed Dentition
Authors: Elhadi Mohieldin Awooda
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Median maxillary labial frenum (MMLF) is one of the oral freni, found on the inner side of the centre of the upper lip. Maxillary midline diastema (MMD) is commonly associated with highly attached frenum, and frenectomy during early mixed dentition is controversial. A 6-year-old boy came with a chief complaint of unpleasant spacing between the two upper front teeth. A median maxillary high attached labial frenum with midline spacing of 5 mm was diagnosed. A consensus was made with the child's father to remove the frenum by laser. Diode laser frenectomy was done, and subsequent follow-up for 12 years revealed no relapse and complete closure of the diastema. Frenectomy during early mixed dentition could be a suitable option for the closure of midline diastema.
Brentuximab vedotin as a bridge to combination chemotherapy in gray zone lymphoma with severe liver impairment: a case report
Authors: Roshan Asrani, Turgot Bora Cengiz, Bruce E Petersen, Theodora Anagnostou, Joshua D Brody
Journal: Front Oncol (2024)
Keywords: cd30+ lymphoma, ikbke, mdm4, hyperbilirubinemia, targeted therapy
MeSH terms: Case Reports

Background:
Gray zone lymphoma (GZL) is a rare lymphoma subtype characterized by features intermediate between diffuse large B-cell lymphoma (DLBCL) and classic Hodgkin lymphoma (cHL). The optimal first-line treatment for GZL remains undefined, particularly for patients with poor performance status or baseline organ impairment. Brentuximab vedotin (BV), a targeted therapy that binds to CD30, a TNFR superfamily member involved in NF-kB signaling, has shown promise in the treatment of CD30-positive lymphomas. However, its use in GZL, especially in patients with severe liver impairment, has not been reported previously.
Case description:
We present a case of a 37-year-old male with GZL and severe liver impairment at initial presentation. The patient initially received monotherapy with BV, which resulted in a marked improvement in liver enzymes and bilirubin levels. Subsequently, combination cytotoxic chemotherapy consisting of dose-adjusted etoposide, prednisone, cyclophosphamide, and doxorubicin (DA-EP_CH) was added. Repeat imaging revealed near complete resolution of lymphadenopathy and significant reduction in hepatosplenomegaly. The patient completed a full course of chemotherapy and achieved a complete response. Follow-up examinations showed no evidence of recurrent disease, and the patient resumed full-time work.
Discussion:
GZL poses diagnostic challenges due to its overlapping features with DLBCL and cHL. Accurate diagnosis relies on comprehensive histopathological evaluation, immunophenotyping, and molecular analysis. The optimal first-line treatment for GZL remains uncertain. BV shows promise as an addition to chemotherapy in GZL, even in the presence of severe liver impairment. The molecular pathogenesis of GZL is complex and heterogeneous, frequently involving aberrant NF-kB signaling and impaired apoptosis regulation via loss of TP53 expression. Understanding the underlying molecular mechanisms is essential for developing targeted therapies and identifying predictive biomarkers for treatment response.
Conclusion:
This case demonstrates the successful use of BV as a bridge to cytotoxic chemotherapy in a GZL patient with severe liver impairment, highlighting its potential safety and efficacy even in the setting of end-organ failure. Further investigation is warranted to define optimal treatment strategies, identify predictive biomarkers, and improve outcomes for patients with this rare and challenging lymphoma subtype.
Inflammatory Lymphedema Masquerading as Bilateral Cellulitis: A Military Dilemma
Authors: Caroline E Moore
Journal: Cureus (2024)
Keywords: antibiotic stewardship, bilateral cellulitis, inflammatory lymphedema, leukocytoclastic vasculitis, military medicine, military recruit, prolonged standing, skin condition
MeSH terms: Case Reports

Bilateral lower extremity inflammatory lymphedema (BLEIL) is a novel condition characterized by confluent erythema and painful edema prominent to the dorsum of the feet and ankles bilaterally following prolonged standing and marching, occurring most often in military recruits. Prolonged standing during the initial week of basic training is thought to cause venous congestion and subsequent inflammatory vasculitis. This condition may be misdiagnosed as bilateral cellulitis, prompting the initiation of unnecessary antibiotic therapy. Increased education and recognition of this new clinical entity would lead to the initiation of appropriate therapy and earlier symptom resolution and, thus, an earlier return to military training. Herein, we describe a small case series of Marine Corps recruit members undergoing their first week of basic training (i.e., "processing week") who developed bilateral lower extremity edema, erythema, and pain localized to the dorsum of the feet and the medial and lateral aspects of the ankles consistent with the diagnosis of BLEIL but were initially diagnosed with bilateral lower extremity cellulitis and received intravenous antimicrobial therapy. With prompt initiation of venous decongestive therapy with leg elevation, both patients had rapid symptom resolution and returned to basic training without any future episodes of symptoms. These cases add to the paucity of data on this clinical entity, illustrate the symptoms and demographics of BLEIL, and describe the importance of recognition and initiation of appropriate therapy.
Stroke as an unusual initial presentation of 'malignant' middle cerebral artery infarction involvement in systemic lupus erythematosus
Authors: Yousef Mahmoud Nimer Habes, Manar Ahmaro, Yasmin Dwikat, Afnan W M Jobran, Fawzy Mazen Abunejma, Mohammed Abdulrazzak
Journal: Ann Med Surg (Lond) (2023)
Keywords: autoimmune disease, case report, middle cerebral artery, stroke, systemic lupus erythematosus
MeSH terms: Case Reports

Introduction and importance:
SLE, or systemic lupus erythematosus, is a chronic autoimmune condition of uncertain origin characterized by the presence of autoantibodies that target the body's own antigens.
Case presentation:
A 16-year-old female presented at the emergency room with a right-sided lip droop and subsequently developed symptoms consistent with a malignant hemispheric infarction, including altered consciousness, hemiplegia, and forced gaze deviation. Her laboratory results were within the normal range. However, a brain MRI revealed cerebral edema and a massive infarction in the middle cerebral artery (MCA) region. Subsequently, her serologic profile was indicative of SLE, leading to a later diagnosis.
Clinical discussion:
The patient in this case presented with symptoms suggestive of a stroke. A CT scan showed MCA occlusion, leading to a diagnosis of malignant MCA syndrome. The patient was also diagnosed with systemic lupus erythematosus, which is associated with an increased risk of stroke. Inflammation-induced thrombosis and CNS vasculitis are potential mechanisms linking SLE and stroke.
Conclusion:
This case serves as an example of a sudden and potentially life-threatening presentation of SLE, underscoring the importance of early detection and targeted treatment that can influence the course of the disease.
Elejalde syndrome - A neuroectodermal melanolysosomal disease: A case report
Authors: Amir Hossein Noohi, Hossein Shojaaldini Ardakani, Kiavash Khashayar, Laily Najafi
Journal: Caspian J Intern Med (2024)
Keywords: elejalde syndrome, neuroectodermal melanolysosomal disease, silvery hair syndrome, silvery-gray hair
MeSH terms: Case Reports

Background:
Elejalde syndrome is a rare neuroectodermal melanolysosomal disease with an autosomal recessive heredity. Patients usually present with silvery-gray hair, neurological abormalities, diffuse skin hypopigmentation and suntanned skin color.
Case presentation:
A 3 1/2-year-old boy presented with hemiplegia since the day before admission. Durig hospital admission, he experienced episodes of status epilepticus and loss of consciousness and underwent mechanical ventilation. The patient had silvery-gray hair, consequently the pathologic evaluation of the hair shaft, revealed enlarged irregularly spaced melanin clumps characteristic for silvery-gray hair syndrome. No immunologic dysfunction was detected due to immunological evaluations, subsequently Elejalde syndrome was confirmed.
Conclusion:
This study adds one new case to the known cases of Elejalde syndrome and confirms that Elejalde patients may not exhibit neurological symptoms until an older age.
Antenatal diagnosis of congenital pouch colon: a case report from the Indian subcontinent with insights into management
Authors: Jitendra Sharma, Rajesh Malik, Reyaz Ahmed
Journal: BJR Case Rep (2023)
Keywords: x-ray abdomen, antenatal sonography, coloplasty, colostomy, congenital malformation, congenital pouch colon
MeSH terms: Case Reports

Congenital pouch colon (CPC) is highly uncommon congenital anorectal malformation where a distended pouch-like structure replaces either some part of the colon or the entire colon and communicates to the genitourinary tract through a fistula. Diagnosis of CPC is usually made after birth when neonate/infant presents with abdominal distension and absence of anal opening. Making antenatal diagnosis of CPC is difficult because of the lack of specific and verifiable signs on sonography. Hence, only a few cases of antenatal diagnosis of CPC have been reported.1,2 In our case, CPC was suspected on a routine antenatal growth scan ultrasound in the late third trimester, showing a hypoechoic tubular-shaped lesion in the pre-sacral region. With this suspicion, we suggested an institutional delivery at a tertiary level centre, and diagnosis of type III CPC was confirmed on post-delivery imaging and emergency primary surgery, done on the day 3 of life (pouch resection, division of fistula, and protective colostomy). The child also underwent further corrective surgeries in a staged manner in second year of life and recovered completely. Beforehand diagnosis prevented any unnecessary delay in operative care, reduced postoperative complications, and improved the overall outcome of this otherwise complex condition.
Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report
Authors: Toshihiko Kakiuchi, Tetsuya Nosho, Masafumi Oka, Katsuya Tashiro
Journal: Front Med (Lausanne) (2024)
Keywords: carbamoyl-phosphate synthetase 1 deficiency disease, heterozygous, hyperammonemia, liver transplantation, ornithine transcarbamylase deficiency disease
MeSH terms: Case Reports

Carbamoyl-phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive congenital urea cycle disorder (UCD) characterized by hyperammonemia. The recipients of liver transplantation (LT) for UCD are often children, and the potential donors are often the parents. Hereditary congenital diseases involving UCD entail the possibility of both parents being genetically heterozygous. Herein, we describe the case of a 12-year-old girl with CPS1 deficiency receiving a liver transplant (soon after birth) from her father, who had a heterozygous CPS1 mutation. She was referred to our hospital with respiratory distress after contracting two infections (respiratory syncytial virus and human metapneumovirus) within a short period, both of which presented with hyperammonemia. Medication for hyperammonemia quickly lowered the ammonia levels. The hyperammonemia was thought to be caused by the heterozygous mutation in the donor liver; moreover, it is likely that the low enzyme activity in the patient's liver was increased due to the infections. This is the first study to report hyperammonemia in a CPS1 deficiency patient due to an infection after LT. Thus, patients with CPS1 deficiency should be aware of the development of hyperammonemia after LT.