Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

2021 ◽  
pp. 106689692110160
Author(s):  
Mingfei Yan ◽  
Mark Rodgers ◽  
Aparna Harbhajanka ◽  
Hannah Gilmore
Keyword(s):  
Breast Lesion ◽  
Hematologic Malignancy ◽  
Genetic Disorders ◽  
Rare Condition ◽  
Myoepithelial Cells ◽  
Hematological Disorders ◽  
First Case ◽  
Benign Nature ◽  
Extensive Involvement

Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.

scholarly journals Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations

2021 ◽  
Vol 9 ◽  
pp. 232470962110567
Author(s):  
Reem Albalawi ◽  
Ehab Hanafy ◽  
Haifa Alnafea ◽  
Mohammed Altowijiry ◽  
Shaima Riyad ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Gene Mutations ◽  
Pure Red Cell Aplasia ◽  
Autoinflammatory Disorder ◽  
Hematological Disorders ◽  
Laboratory Techniques ◽  
First Case ◽  
Adenosine Deaminase 2 ◽  
Hematological Manifestations

Recent progress in laboratory techniques, particularly, identification of novel disease-causing genes, has led to the detection of different gene mutations that might be implicated in the pathogenesis of different hematological disorders like pure red cell aplasia (PRCA) and neutropenia. An autoinflammatory disorder known as deficiency of adenosine deaminase 2 (DADA2) has been recently noticed to present with variable hematologic abnormalities. We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. (Ala247Glnfs*16) homozygous variant. The second case is a 10-year-old boy, known to have Hodgkin lymphoma and was under follow-up for 6 years; he presented with persistent neutropenia and was discovered to be homozygous for ADA2 c.1447_1451del, p. (Ser483Profs*5). In conclusion, we report two different novels ADA2 variants in two children; the first presented with PRCA and the second presented with persistent neutropenia. This report aims to raise the concerns regarding the use of genetic testing in different hematologic diseases with indefinite etiology, as it will lead to the best therapeutic strategies without the need for unnecessary interventions.

scholarly journals Acute Hydrops with Micro-Cornea – an Extremely Rare Condition: A Case Report

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000003
Author(s):  
Tuhin Chowdhury ◽  
Aditya Pradhan
Keyword(s):  
Optical Coherence Tomography ◽  
Case Report ◽  
General Anaesthesia ◽  
Systemic Disease ◽  
Anterior Segment ◽  
Rare Condition ◽  
First Case ◽  
Intracameral Injection ◽  
Lost To Follow Up

Purpose To report the first case of a one-eyed child with micro-cornea, coloboma of iris and acute hydrops without any other disorder of the cornea or systemic disease. Methods Intracameral injection of perfluoro propane (C3F8) gas was performed under general anaesthesia. Results Resolution of the hydrops was observed at 1st week of follow-up, which was confirmed by anterior segment optical coherence tomography. Patient was subsequently lost to follow-up. Conclusions Intracameral injection of perfluoro propane gas is an effective way to quickly resolve acute hydrops. In this specific case, the patient presented with micro-cornea and no other corneal abnormalities.

Epithelioid hemangioendothelioma of the spine

2005 ◽  
Vol 3 (5) ◽  
pp. 393-399 ◽  
Author(s):  
Kristian Aquilina ◽  
Christopher Lim ◽  
Mahmoud Hamdy Kamel ◽  
Charles J. Marks ◽  
Michael G. O'Sullivan ◽  
...  
Keyword(s):  
Tumor Resection ◽  
Spinal Tumor ◽  
Epithelioid Hemangioendothelioma ◽  
Upper Cervical Spine ◽  
Content Type ◽  
First Case ◽  
Upper Cervical ◽  
Vascular Origin ◽  
Extensive Involvement

✓ Epithelioid hemangioendothelioma (EH) is a rare tumor of vascular origin. The authors describe two cases of spinal EH, one involving the T-10 vertebra and the second involving the upper cervical spine. In the first case the patient underwent resection of the tumor; this case represents the longest reported follow-up period for spinal EH. In the second case, extensive involvement of C-2, C-3, and C-4 as well as encasement of both vertebral arteries precluded safe tumor resection, and posterior occipitocervical stabilization was performed. The patient subsequently died of metastatic disease. The findings in these two cases underscore the difficulty in predicting the clinical behavior of spinal EH based solely on histological and clinical features as well as the uncertainty of the roles of surgery, chemotherapy, and radiotherapy in the oncological management of a spinal tumor for which clinical data are very limited.

Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz
Keyword(s):  
Antithrombin Iii ◽  
Adult Life ◽  
Rare Condition ◽  
Male Infant ◽  
Liver Cells ◽  
Liver Pathology ◽  
Fixed Tissue ◽  
Formalin Fixed Tissue ◽  
First Case ◽  
At Iii

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

Autoimmune Pancreatitis – Diagnosis, Management and Longterm Follow-up

2014 ◽  
Vol 23 (2) ◽  
pp. 179-185 ◽  
Author(s):  
Suvadip Chatterjee ◽  
Kofi W. Oppong ◽  
John S. Scott ◽  
Dave E. Jones ◽  
Richard M. Charnley ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Rare Condition ◽  
Team Approach ◽  
Diagnostic Challenge ◽  
Multisystem Disorder ◽  
North East ◽  
The North ◽  
Work Up ◽  
Igg4 Level

Background & Aims: Autoimmune pancreatitis (AIP) is a fibroinflammatory condition affecting the pancreas and could present as a multisystem disorder. Diagnosis and management can pose a diagnostic challenge in certain groups of patients. We report our experience of managing this condition in a tertiary pancreaticobiliary centre in the North East of England.Methods: Patients were identified from a prospectively maintained database of patients diagnosed with AIP between 2005 and 2013. Diagnosis of definite/probable AIP was based on the revised HISORt criteria. When indicated, patients were treated with steroids and relapses were treated with azathioprine. All patients have been followed up to date.Results: Twenty-two patients were diagnosed with AIP during this period. All patients had pancreatic protocol CT performed while some patients had either MR or EUS as part of the work up. Fourteen out of 22 (64%) had an elevated IgG4 level (mean: 10.9 g/L; range 3.4 - 31 g/L). Four (18%) patients underwent surgery. Extrapancreatic involvement was seen in 15 (68%) patients, with biliary involvement being the commonest. Nineteen (86%) were treated with steroids and five (23%) required further immunosuppression for treatment of relapses. The mean follow up period was 36.94 months (range 7 - 94).Conclusion: Autoimmune pancreatitis is being increasingly recognized in the British population. Extrapancreatic involvement, particularly extrahepatic biliary involvement seems to be a frequent feature.Diagnosis should be based on accepted criteria as this significantly reduces the chances of overlooking malignancy. Awareness of this relatively rare condition and a multi-disciplinary team approach will help us to diagnose and treat this condition more efiectively thereby reducing unnecessary interventions.

When fever is more than infection: two cases of vancomycin-induced drug reaction with eosinophilia and systemic symptoms (DRESS)

2021 ◽  
Vol 14 (1) ◽  
pp. e238006
Author(s):  
Mitchell Cox ◽  
Sophie Paviour ◽  
Sophie Gregory ◽  
Rusheng Chew
Keyword(s):  
Drug Reaction ◽  
Cytomegalovirus Reactivation ◽  
First Case ◽  
Metropolitan Hospital ◽  
Orthopaedic Ward ◽  
Systemic Hypersensitivity ◽  
Systemic Symptoms ◽  
Inflammatory Syndrome ◽  
Intravenous Glucocorticoids

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, but serious systemic hypersensitivity reaction associated with a range of medications. We present two cases of vancomycin-induced DRESS, which occurred simultaneously in the orthopaedic ward in an outer metropolitan hospital. These cases demonstrate the complexity in the diagnosis and management of this inflammatory syndrome on the background of known infection as well as evidence for linezolid as an alternative to vancomycin. The first case was managed conservatively, but developed progressive renal and liver injury along with demonstrated cytomegalovirus reactivation and recurrent colitis, and was eventually palliated. The second was commenced on intravenous glucocorticoids and achieved remission, although had ongoing renal dysfunction at the time of discharge from outpatient follow-up.

Complete resolution of acute pancreatitis-induced chylous ascites following transhepatic portal vein stenting

2020 ◽  
Vol 13 (12) ◽  
pp. e235986
Author(s):  
Alexander Tindale ◽  
James Jackson ◽  
Darina Kohoutova ◽  
Panagiotis Vlavianos
Keyword(s):  
Portal Vein ◽  
Complete Resolution ◽  
Chylous Ascites ◽  
Biliary Pancreatitis ◽  
Acute Biliary Pancreatitis ◽  
Portal Vein Stenosis ◽  
First Case ◽  
Vein Stenosis ◽  
Inflammatory Changes

We introduce a case of a 73-year-old man who developed intractable chylous ascites due to portal vein compression as a result of peripancreatic inflammatory changes after acute biliary pancreatitis. After stenting the portal vein stenosis, the chylous ascites improved from requiring weekly paracentesis to requiring no drainage within 4 months of the procedure and at the 15-month follow-up. To our knowledge, it is the first case reported in the literature where portal vein stenting has successfully been used to treat pancreatitis-induced chylous ascites.

Extremely Elevated Cerebrospinal Fluid Protein and Glucose Level in a Neonate with Hypernatremic Dehydration

2020 ◽  
Author(s):  
Arti Maria ◽  
Tapas Bandyopadhyay
Keyword(s):  
Cerebrospinal Fluid ◽  
Neurodevelopmental Outcome ◽  
Neurological Sequelae ◽  
Glucose Levels ◽  
Csf Analysis ◽  
First Case ◽  
Time Of Admission ◽  
Cerebrospinal Fluid Protein ◽  
Hypernatremic Dehydration

AbstractWe describe the case of a term newborn who presented with hypernatremic dehydration on day 19 of life. The baby was otherwise hemodynamically stable with no evidence of focal or asymmetric neurological signs. The laboratory tests at the time of admission were negative except for hypernatremia and the extremely elevated levels of cerebrospinal fluid (CSF) protein (717 mg/dL) and glucose levels (97 mg/dL). The hypernatremic dehydration was corrected as per the unit protocol over 48 hours. Repeat CSF analysis done after 5 days showed normalization of the protein and glucose levels. Serial follow-up and neuroimaging showed no evidence of neurological sequelae. Unique feature of our case is this is the first case reporting such an extreme elevation of CSF protein and glucose levels that have had no bearing on neurodevelopmental outcome at 1 month and 3 months of follow-up.

scholarly journals Surgical Treatment of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Involving the Cervical Spine: Technical Nuances and Outcome of a Multicenter Experience

2021 ◽  
pp. 219256822098827
Author(s):  
Giorgio Lofrese ◽  
Alba Scerrati ◽  
Massimo Balsano ◽  
Roberto Bassani ◽  
Michele Cappuccio ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Clinical Outcome ◽  
Waiting Times ◽  
Diffuse Idiopathic Skeletal Hyperostosis ◽  
Surgical Techniques ◽  
Rare Condition ◽  
Surgical Strategies ◽  
Bone Removal ◽  
Mild Dysphagia

Study Design: Retrospective multicenter. Objectives: diffuse idiopathic skeletal hyperostosis (DISH) involving the cervical spine is a rare condition determining disabling aero-digestive symptoms. We analyzed impact of preoperative settings and intraoperative techniques on outcome of patients undergoing surgery for DISH. Methods: Patients with DISH needing for anterior cervical osteophytectomy were collected. Swallow studies and endoscopy supported imaging in targeting bone decompression. Patients characteristics, clinico-radiological presentation, outcome and surgical strategies were recorded. Impact on clinical outcome of duration and time to surgery and different surgical techniques was evaluated through ANOVA. Results: 24 patients underwent surgery. No correlation was noted between specific spinal levels affected by DISH and severity of pre-operative dysphagia. A trend toward a full clinical improvement was noted preferring the chisel ( P = 0.12) to the burr ( P = 0.65), and whenever C2-C3 was decompressed, whether hyperostosis included that level ( P = 0.15). Use of curved chisel reduced the surgical times ( P = 0.02) and, together with the nasogastric tube, the risk of complications, while bone removal involving 3 levels or more ( P = 0.04) and shorter waiting times for surgery ( P < 0.001) positively influenced a complete swallowing recovery. Early decompressions were preferred, resulting in 66.6% of patients reporting disappearance of symptoms within 7 days. One and two recurrences respectively at clinical and radiological follow-up were registered 18-30 months after surgery. Conclusion: The “age of DISH” counts more than patients’ age with timeliness of decompression being crucial in determining clinical outcome even with a preoperative mild dysphagia. Targeted bone resections could be reasonable in elderly patients, while in younger ones more extended decompressions should be preferred.

scholarly journals Rare Etiology of Odynophagia in a Female Adolescent

2021 ◽  
pp. 352-358
Author(s):  
Anastasios Koutsoumourakis ◽  
Asterios Gagalis ◽  
Maria Fotoulaki ◽  
Maria Stafylidou
Keyword(s):  
Antiviral Treatment ◽  
Healing Process ◽  
Rare Condition ◽  
Female Adolescent ◽  
Mucosal Barrier ◽  
Esophageal Mucosa ◽  
Intact Immune System ◽  
History Of ◽  
Orolabial Herpes

Herpes esophagitis (HE) is a rare condition in immunocompetent adolescents. However, it commonly occurs as a primary infection in younger individuals. Herein, we report a 16-year-old female patient who had a history of fever for 5 days, odynophagia, and orolabial herpes infection for 7 days. Clusters of painful vesicles on an erythematous base on the lips, gingiva, and palate were observed on physical examination. Further, esophagogastroduodenoscopy revealed diffuse linear ulcerations in the distal esophagus. The patient then received the following treatment: intravenous (I.V.) acyclovir 5 mg/kg three times a day, I.V. omeprazole 40 mg two times a day, and acyclovir 5% cream four times a day. After 8 days of admission, the patient was discharged. A follow-up esophagogastroduodenoscopy was performed 7 weeks after discharge, and the results revealed that the esophageal mucosa had a normal appearance. The effect of antiviral treatment against HE remains unknown in these patients. Nevertheless, it is believed to accelerate the healing process in individuals with esophageal mucosal barrier damage. To the best of our knowledge, this case of a female adolescent with an intact immune system is the sixth case of herpes simplex esophagitis to be reported in the literature.

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