Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

Abstract Background Meningeal melanomatosis is a rare type of central nervous system neoplasm (with incidence ranging between 3 and 5%) that develops in the course of malignant melanoma. In a small percentage of cases, meningeal melanomatosis may develop without a primary focus. It affects the leptomeninx. The clinical activity of the disease is uncharacteristic, with a number of neurological symptoms developing over weeks or months. Case presentation A 45-year-old male patient presented with consciousness disturbance, cognitive dysfunctions, seizures and progressive paresis. None of the examinations performed, including cerebrospinal fluid examination, neuroimaging and biopsy of the leptomeninges, permitted us to establish a diagnosis during the patient’s hospital stay. The diagnosis of meningeal melanomatosis was established after an autopsy had been carried out. Conclusions In the absence of unequivocal test results, it is also worth taking into account the primary changes in the leptomeninx, including those caused by melanoma.

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Successful treatment of acquired reactive perforating collagenosis with itraconazole

European Journal of Medical Research ◽

10.1186/s40001-021-00542-6 ◽

2021 ◽

Vol 26 (1) ◽

Author(s):

Binrong Ye ◽

Yi Cao ◽

Yeqiang Liu

Keyword(s):

Skin Biopsy ◽

Fungal Infection ◽

Successful Treatment ◽

Rare Form ◽

Case Presentation ◽

Therapeutic Benefits ◽

Immunological Tests ◽

Anti Inflammatory ◽

Reactive Perforating Collagenosis

Abstract Background Acquired reactive perforating collagenosis (ARPC) is a rare form of transepithelial elimination in which altered collagen is extruded through the epidermis. Case presentation A 23-year-old male presented with cup-like ulcerated lesions on his limbs since 3 months. A series of serological and immunological tests showed no abnormalities. A diagnosis of ARPC was based on skin biopsy findings. The patient was cured using treatment with itraconazole for 8 weeks, in the absence of a fungal infection. Conclusions The anti-inflammatory and anti-angiogenic effects of itraconazole can have good therapeutic benefits for ARPC.

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Atypical anti-glomerular basement membrane disease with anti-GBM antibody negativity and ANCA positivity: a case report

BMC Nephrology ◽

10.1186/s12882-021-02232-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Na Guo ◽

Qinghua Yin ◽

Song Lei ◽

Yanjun He ◽

Ping Fu

Keyword(s):

Basement Membrane ◽

Glomerular Basement Membrane ◽

Rare Case ◽

Test Results ◽

Serum Samples ◽

Tissue Samples ◽

Case Presentation ◽

Severe Renal Insufficiency ◽

Laboratory Test Results ◽

Organ Specific

Abstract Background Anti-glomerular basement membrane (anti-GBM) disease is an organ-specific autoimmune disease that involves the lung and kidneys and leads to rapid glomerulonephritis progression, with or without diffuse alveolar hemorrhage, and even respiratory failure. Classic cases of anti-GBM disease are diagnosed based on the presence of the anti-GBM antibody in serum samples and kidney or lung biopsy tissue samples. However, atypical cases of anti-GBM disease are also seen in clinical practice. Case presentation We herein report the rare case of a patient with atypical anti-GBM disease whose serum was negative for the anti-GBM antibody but positive for the myeloperoxidase (MPO) anti-neutrophil cytoplasmic antibody (p-ANCA) and another atypical ANCA. Laboratory test results showed severe renal insufficiency with a creatinine level of 385 μmol/L. Renal biopsy specimen analysis revealed 100% glomeruli with crescents; immunofluorescence showed immunoglobulin G (IgG) linearly deposited alongside the GBM. Finally, the patient was discharged successfully after treatment with plasmapheresis, methylprednisolone and prednisone. Conclusion This patient, whose serum was negative for the anti-GBM antibody but positive for p-ANCA and another atypical ANCA, had a rare case of anti-GBM disease. Insights from this unusual case might help physicians diagnose rare forms of glomerulonephritis and treat affected patients in a timely manner.

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The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0030 ◽

2020 ◽

Vol 33 (12) ◽

pp. 1605-1608

Author(s):

Xiao Qin ◽

Jingzi Zhong ◽

Dan Lan

Keyword(s):

Diabetes Mellitus ◽

Novel Mutation ◽

Male Infant ◽

Neonatal Diabetes ◽

Monogenic Diabetes ◽

Neonatal Diabetes Mellitus ◽

Rare Form ◽

Case Presentation ◽

Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

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Primary small cell type of non-Hodgkin lymphoma of the colon: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-020-02500-y ◽

2020 ◽

Vol 14 (1) ◽

Author(s):

Eyal Meir ◽

Chovav Handler ◽

Uri Kaplan ◽

Doron Kopelman ◽

Ossama A. Hatoum

Keyword(s):

Case Report ◽

Hodgkin Lymphoma ◽

Small Cell ◽

Primary Lymphoma ◽

Cell Type ◽

Rare Type ◽

Case Presentation ◽

Carcinoma Of The Colon ◽

Non Hodgkin Lymphoma ◽

High Level

Abstract Introduction Primary lymphoma of the colon is exceedingly rare and comprises 0.2–1% of all colon tumors. The most common subtype of lymphoma in the colon is non-Hodgkin lymphoma. Symptoms are often nonspecific, and treatment varies between chemotherapy alone and a combination of surgery and chemotherapy. Case presentation We describe a case of a Ashkenazi Jew patient who presented in the typical way that carcinoma of the colon might present but turned out to have a very rare type of tumor in both its histology and its location. Conclusion There was apparent discordance between the relative bulkiness and gross appearance of the tumor with the unrevealing result of the biopsies, demanding a high level of suspicion as to the actual presence and possible type of such a tumor in the future.

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A young adult with COVID-19 and multisystem inflammatory syndrome in children (MIS-C)-like illness: a case report

BMC Infectious Diseases ◽

10.1186/s12879-020-05439-z ◽

2020 ◽

Vol 20 (1) ◽

Cited By ~ 1

Author(s):

Aaron D. Kofman ◽

Emma K. Sizemore ◽

Joshua F. Detelich ◽

Benjamin Albrecht ◽

Anne L. Piantadosi

Keyword(s):

Cardiac Dysfunction ◽

Clinical Characteristics ◽

Kidney Injury ◽

Clinical Findings ◽

Low Grade ◽

Rare Form ◽

Case Presentation ◽

Lymph Node Swelling ◽

Inflammatory Syndrome

Abstract Background A healthy 25-year-old woman developed COVID-19 disease with clinical characteristics resembling Multisystem Inflammatory Syndrome in Children (MIS-C), a rare form of COVID-19 described primarily in children under 21 years of age. Case presentation The patient presented with 1 week of weakness, dyspnea, and low-grade fevers, followed by mild cough, sore throat, vomiting, diarrhea, and lymph node swelling. She was otherwise healthy, with no prior medical history. Her hospital course was notable for profound acute kidney injury, leukocytosis, hypotension, and cardiac dysfunction requiring ICU admission and vasopressor support. MIS-C-like illness secondary to COVID-19 was suspected due to physical exam findings of conjunctivitis, mucositis, and shock. She improved following IVIG, aspirin, and supportive care, and was discharged on hospital day 5. Conclusion MIS-C-like illness should be considered in adults presenting with atypical clinical findings and concern for COVID-19. Further research is needed to support the role of IVIG and aspirin in this patient population.

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Mesenteric Fibromatosis in a Patient with Camurati-Engelmann Disease. A Case Report and Literature Review

Tumori Journal ◽

10.1177/030089160509100617 ◽

2005 ◽

Vol 91 (6) ◽

pp. 552-554 ◽

Cited By ~ 2

Author(s):

Pierluigi Ballardini ◽

Loretta Gulmini ◽

Guido Margutti ◽

Giorgio Lelli

Keyword(s):

Case Report ◽

Literature Review ◽

Rare Diseases ◽

Bone Dysplasia ◽

Low Grade ◽

Long Bones ◽

Rare Form ◽

Rare Type ◽

Mesenteric Fibromatosis ◽

Engelmann Disease

Mesenteric fibromatosis is a rare type of desmoid tumor characterized by local aggressiveness and a tendency to relapse. In view of these characteristics it may be considered a low-grade fibrosarcoma. Camurati-Engelmann disease is a very rare form of bone dysplasia characterized by osteosclerosis of the diaphyses of the long bones. Here we describe the case of a male patient affected by these two rare diseases in association with chronic inflammatory intestinal disease.

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Bilateral Luxatio Erecta Humeri With Acute Anterior-inferior Re-dislocation

Clinical Practice and Cases in Emergency Medicine ◽

10.5811/cpcem.2019.9.44205 ◽

2019 ◽

Vol 4 (1) ◽

pp. 38-41

Author(s):

Adam Kessler ◽

Jacob Hinkley ◽

David Houserman ◽

Jacob Lytle ◽

Michael Sorscher

Keyword(s):

Humeral Head ◽

Shoulder Dislocation ◽

Reduction Method ◽

Low Energy ◽

Rare Form ◽

Rare Type ◽

Luxatio Erecta ◽

Successful Reduction ◽

Glenohumeral Dislocation

Luxatio erecta is a description for a specific and rare type of shoulder dislocation where the humeral head dislocates directly inferior. This rare form of glenohumeral dislocation accounts for only 0.5% of shoulder dislocations. It is even less common for both shoulders to be bilaterally dislocated inferiorly with the characteristic “hands up” posture. A limited number of these bilateral occurrences are described in the literature to date and most have been from higher energy trauma. We have described a low energy case of bilateral luxatio erecta and the reduction method used and the continued instability following successful reduction under procedural anesthesia.

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A Rare Cause of Acute Abdomen: An Isolated Falciform Ligament Necrosis

Case Reports in Emergency Medicine ◽

10.1155/2014/570751 ◽

2014 ◽

Vol 2014 ◽

pp. 1-3 ◽

Cited By ~ 4

Author(s):

Ziya Taner Ozkececı ◽

Mustafa Ozsoy ◽

Bahadır Celep ◽

Ahmet Bal ◽

Coskun Polat

Keyword(s):

Acute Abdomen ◽

Leukocyte Count ◽

Exploratory Laparotomy ◽

Falciform Ligament ◽

Test Results ◽

Imaging Studies ◽

Anatomical Structures ◽

Case Presentation ◽

Air Density ◽

Laboratory Test Results

The falciform ligament is one of the anatomical structures which attach the liver to the diaphragm and anterior abdominal wall. Primary falciform ligament is very rare. In this article, we present a case of an isolated falciform ligament necrosis, a rare primary pathology of the falciform ligament, who was admitted with acute abdomen. Case presentation: A 64-year-old female patient was admitted with the complaints of pain. Laboratory test results showed a leukocyte count of 17,000/mm3. Imaging studies demonstrated intra-abdominal reactionary fluid along with a heterogeneous mass localized in the falciform ligament. Exploratory laparotomy revealed a necrotic mass of the falciform ligament. No other pathology responsible for falciform ligament necrosis was found. We believe that falciform ligament necrosis should be considered a preliminary diagnosis, if any ligament abnormality, tumor, intraligament air density, or the presence of reactionary fluid surrounding the ligament is detected through abdominal imaging studies.

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Renal replacement therapy-requiring acute kidney injury due to tubulointerstitial nephritis and uveitis syndrome: case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-03147-z ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

B. Marahrens ◽

K. Amann ◽

K. Asmus ◽

S. Erfurt ◽

D. Patschan

Keyword(s):

Acute Kidney Injury ◽

Renal Replacement Therapy ◽

Replacement Therapy ◽

Kidney Function ◽

Tubulointerstitial Nephritis ◽

Kidney Injury ◽

Rare Type ◽

Case Presentation ◽

New Onset

Abstract Background Acute kidney injury is a major challenge for today’s healthcare systems around the globe. Renal replacement therapy has been shown to be beneficial in acute kidney injury, but treatment highly depends on the cause of the acute kidney injury. One less common cause is tubulointerstitial nephritis, which comes in different entities. A very rare type of tubulointerstitial nephritis is tubulointerstitial nephritis and uveitis syndrome, in which the patient presents with additional uveitis. Case presentation A 19-year-old caucasian male presented with mild dyspnea, lack of appetite, weight loss, and moderate itchiness. Lab results showed an acute kidney injury with marked increase of serum creatinine. The patient was started on prednisolone immediately after admission. As the patient in this case showed symptoms of uremia on admission, we decided to establish renal replacement therapy, which is unusual in tubulointerstitial nephritis and uveitis syndrome. During his course of dialysis, the patient developed symptoms of sepsis probably due to a catheter-related infection requiring intensive care and antibiotic treatment, which had to be terminated early as the patient developed a rash. Intensified immunosuppression, combined with antibiotics, significantly resolved excretory kidney dysfunction. Conclusions Since both the primary inflammatory process and the secondary infectious complication significantly impaired excretory kidney function, kidney function of younger individuals with new-onset anterior uveitis should be monitored over time and during follow-up.

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Persistent intrathecal interleukin-8 production in a patient with SARS-CoV-2-related encephalopathy presenting aphasia: a case report.

BMC Neurology ◽

10.1186/s12883-021-02459-3 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Takuya Kudo ◽

Yuichi Hayashi ◽

Kenjiro Kunieda ◽

Nobuaki Yoshikura ◽

Akio Kimura ◽

...

Keyword(s):

Epileptic Seizures ◽

Neurological Deficits ◽

Central Nervous System Inflammation ◽

Focal Neurological Deficit ◽

Case Presentation ◽

Monocyte Chemoattractant Protein 1 ◽

Monocyte Chemoattractant ◽

Consciousness Disturbance ◽

The Brain

Abstract Background Neurological manifestations of coronavirus disease 2019 (COVID-19) are increasingly recognized and include encephalopathy, although direct infection of the brain by SARS-CoV-2 remains controversial. We herein report the clinical course and cytokine profiles of a patient with severe SARS-CoV-2-related encephalopathy presenting aphasia. Case presentation An 81-year-old man developed acute consciousness disturbance and status epileptics several days after SARS-CoV-2 infection. Following treatment with remdesivir and dexamethasone, his consciousness and epileptic seizures improved; however, amnestic aphasia and agraphia remained. Two months after methylprednisolone pulse and intravenous immunoglobulin, his neurological deficits improved. We found increased levels of interleukin (IL)-6, IL-8, and monocyte chemoattractant protein-1 (MCP-1), but not IL-2 and IL-10 in the serum and cerebrospinal fluid (CSF), and the levels of serum IL-6 and MCP-1 were much higher than those in the CSF. The level of IL-8 in the CSF after immunotherapy was four times higher than that before immunotherapy. Conclusion The cytokine profile of our patient was similar to that seen in severe SARS-CoV-2-related encephalopathy. We demonstrated (i) that the characteristic aphasia can occur as a focal neurological deficit associated with SARS-CoV-2-related encephalopathy, and (ii) that IL8-mediated central nervous system inflammation follows systemic inflammation in SARS-CoV-2-related encephalopathy and can persist and worsen even after immunotherapy. Monitoring IL-8 in CSF, and long-term corticosteroids may be required for treating SARS-CoV-2-related encephalopathy.

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