scholarly journals A Unique Case of Multicentric Infantile Myofibromatosis with Radiologic-Pathologic Correlation

Children ◽  
2022 ◽  
Vol 9 (1) ◽  
pp. 53
Author(s):  
Luka Pušnik ◽  
Daja Šekoranja ◽  
Domen Plut
Keyword(s):  
Soft Tissues ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Infantile Myofibromatosis ◽  
Unique Case ◽  
Visceral Involvement ◽  
Skin Nodule ◽  
Metastatic Lung ◽  
Entire Lung ◽  
Benign Nodules

Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as one or more benign nodules of the skin, bones, soft tissues, or, rarely, visceral organs. According to the location and number of lesions, there are three different forms: solitary, multicentric without visceral involvement, and multicentric with visceral involvement (generalised), with the latter having the least favourable prognosis. We present a unique case of severe congenital generalised IM in a new-born male who required intubation and mechanical ventilation immediately after the birth due to respiratory distress. A chest radiograph showed numerous tumours involving the entire lung, resembling a metastatic lung disease. Additionally, the neonate had multiple, bluish, papular skin nodules and a biopsy of a skin nodule ultimately led to the diagnosis of IM. Diffuse lung involvement prevented adequate ventilation which resulted in multiorgan failure and death before targeted treatment could have been initiated. The presented case is unique, as such atypical extensive involvement of the lung and leptomeninges in IM has not been reported before. In this brief report, we present the findings of radiographic and ultrasonographic examinations in correlation with autopsy and histopathology.

Bone marrow necrosis and fat embolism syndrome: a near fatal complication in previously undiagnosed sickle beta + thalassaemia

2021 ◽  
Vol 14 (1) ◽  
pp. e238317
Author(s):  
Nibash Budhathoki ◽  
Sunita Timilsina ◽  
Bebu Ram ◽  
Douglas Marks
Keyword(s):  
Bone Marrow ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Altered Mental Status ◽  
Fat Embolism ◽  
Bone Marrow Necrosis ◽  
Embolism Syndrome ◽  
Hb S ◽  
High Index Of Suspicion ◽  
Specific Symptoms

Prevalence of haemoglobin sickle-β+ thalassaemia (Hb S/β+thal) is variable with geography ranging from 0.2% to 10% among sickle cell patients. Clinical presentation of Hb S/β+thal patients depends on HbA level, with milder disease often going undiagnosed. However, rarely these patients can present with a fulminant vaso-occlusive crisis (VOC). Given VOC can present with non-specific symptoms, the diagnosis and treatment is often delayed. Here, we present a patient who initially developed altered mental status, pancytopenia and multiorgan failure due a critical VOC resulting in bone marrow necrosis and fat embolism. Subsequent workup confirmed that our patient had Sickle-β+ thalassaemia, which had gone undiagnosed, despite subclinical evidence of haemolysis on routine lab work for years. Following diagnosis and initiation of RBC exchange, he improved significantly and was discharged home. High index of suspicion and bone marrow biopsy is vital for early diagnosis and management of this rare condition.

scholarly journals Hyperparasitism in caves: bats, bat flies and ectoparasitic fungus

2018 ◽  
Vol 1 ◽  
Author(s):  
Katrine Jensen ◽  
Luísa Rodrigues ◽  
Thomas Pape ◽  
Anders Garm ◽  
Sergi Santamaria ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Natural Populations ◽  
Common Species ◽  
Unique Case ◽  
Male And Female ◽  
Entire Life ◽  
Bat Flies ◽  
Starting Point ◽  
Bat Fly ◽  
Peculiar Case

Bat flies (Nycteribiidae) of the order Diptera are highly specialized bloodsucking ectoparasites living on bats. The life-cycle of the bat flies emphasizes their obligate relationship with their hosts as they spend almost their entire life on bats. Upon mating, the female bat fly carries the larvae internally until the 3rd-instar when it deposits the larvae on the ceiling of the roost occupied by bats. The larvae then form a puparium. After 3-4 weeks the adult bat fly emerges from the puparium and starts searching for a host bat to colonize. Some of these ectoparasitic bat flies themselves are infected with an ectoparasitic fungus of the genus Arthrorhynchus (Laboulbeniales). Ascospores of the fungi attach themselves to the cuticle of the bat fly and develop a very conspicuous haustorium that penetrates into the soft tissues from where it presumably extract nutrition from the hemolymph of the bat flies. This interaction converts the fungus into a hyperparasite. Both the parasite and hyperparasite are obligates and cannot live separate from their hosts. This peculiar case of hyperparasitism remains highly unknown. The bat flies were collected in caves of Portugal, in maternity and hibernation bat seasons, and in the autumn migration period. The most common species of cave-dwelling bat species in Portugal is Miniopterus schreibersii, frequently parasitized with Nycteribia schmidlii and Penicillidia conspicua bat flies. We have studied the prevalence of the Laboulbeniales of the genus Arthrorhynchus in natural populations of bat flies. The site and position of the fungus on male and female bat flies unveils the mechanism of fungal transmission among bat flies, indicating that it occurs during mating behavior. This study is the starting point towards the understanding of this unique case of fungus-insect-vertebrate hyperparasitism interaction. See Suppl. material 1.

Solitary Testicular Myofibroma: A Case Report and Review of the Literature

2005 ◽  
Vol 129 (10) ◽  
pp. 1322-1325
Author(s):  
Samson W. Fine ◽  
North J. Davis ◽  
Lawrence E. Lykins ◽  
Elizabeth Montgomery
Keyword(s):  
Case Report ◽  
Soft Tissues ◽  
Smooth Muscle Actin ◽  
Male Infant ◽  
Muscle Actin ◽  
Review Of The Literature ◽  
Infantile Myofibromatosis ◽  
Internal Organs ◽  
Mesenchymal Neoplasms ◽  
Spindle Cells

Abstract Myofibromas are benign mesenchymal neoplasms of myofibroblastic origin. Most present as solitary lesions at any age, but the presentation of multiple lesions in newborns and infants is known as infantile myofibromatosis. Multicentric lesions commonly involve soft tissues and bone and may involve internal organs, where they are associated with an unfavorable prognosis. Solitary lesions involving the viscera are rare. We report a case of a 3-month-old male infant with a left testicular mass detected during an evaluation for suspected torsion. The patient underwent orchiectomy, revealing a nodular mass with grossly evident foci of necrosis. Histologically, the lesion exhibited small fascicles of plump eosinophilic, smooth muscle actin–positive spindle cells, alternating with larger areas of primitive cells with vesicular nuclei and scant cytoplasm arranged around a hemangiopericytoma-like vasculature. To our knowledge, this is the first report of a myofibroma localized within the testis.

scholarly journals Hemophagocytic lymphohistiocytosis in a patient with glioblastoma: a case report

CNS Oncology ◽  
2019 ◽  
Vol 8 (4) ◽  
pp. CNS45 ◽  
Author(s):  
Vaibhav Kumar ◽  
Patrick J Eulitt ◽  
Ana Bermudez ◽  
Simon Khagi
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Epstein Barr Virus ◽  
Hematologic Malignancy ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Solid Organ ◽  
Adult Onset ◽  
Barr Virus ◽  
Epstein Barr ◽  
High Index Of Suspicion

Adult onset hemophagocytic lymphohistiocytosis (HLH) is a rare condition, usually secondary to either a precipitating infective or hematologic malignancy. We present a case of Epstein–Barr virus associated HLH in a 55-year-old female receiving treatment for a glioblastoma (GBM). It is possible that HLH is under recognized, as patients with GBM often have features of a nonspecific systemic inflammatory response syndrome, multiorgan failure and cognitive decline. A high index of suspicion and increased awareness can help improve timeliness of diagnosis. Therapeutically, Epstein–Barr virus associated HLH in patients with solid organ malignancy poses significant challenges. An individualized, multidisciplinary approach is essential when managing adult-onset HLH and providers will need to be mindful of the high mortality rate despite treatment.

scholarly journals Assisted Reproductive Technology as a Transcutaneous Route for Bacterial Contamination of Ovarian Endometrioma with Coagulase-Negative Staphylococcus: Case Report and Review of the Literature

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Shimon Edelstein ◽  
Inbar Ben Shachar ◽  
Hila Ben-Amram ◽  
Seema Biswas ◽  
Naama Marcus
Keyword(s):  
Assisted Reproductive Technology ◽  
Bacterial Contamination ◽  
Soft Tissues ◽  
Group B Streptococcus ◽  
Rare Condition ◽  
Oocyte Retrieval ◽  
Reproductive Technology ◽  
Causative Organism ◽  
Coagulase Negative Staphylococcus ◽  
Group B

Tubo-ovarian abscess may develop in women with endometrioma following assisted reproductive technology (ART). The infection, though rare, is typically late in onset and may present several months after the procedure, and in pregnancy—with the risks of abortion and premature labor. It is thought that transcutaneous oocyte retrieval during ART is the route for bacterial contamination resulting in infection of the endometrioma. Pathogens reported in the literature include Escherichia coli (E. coli) and Group B streptococcus (GBS) but Staphylococcus lugdunensis (S. lugdunensis), a coagulase-negative staphylococcus (CoNS), and groin and perineal skin commensal was isolated from the endometrioma in this case. We discuss the challenges in diagnosis and treatment of this rare condition and the implications of the discovery that an organism previously dismissed as a contaminant has emerged as a causative organism in severe, deep-seated infections of soft tissues in recent literature.

scholarly journals Clostridium difficileEnteritis after Total Abdominal Colectomy for Ulcerative Colitis

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Hassan Nasser ◽  
Semeret Munie ◽  
Dania Shakaroun ◽  
Tommy Ivanics ◽  
Surya Nalamati ◽  
...  
Keyword(s):  
Ulcerative Colitis ◽  
Small Bowel ◽  
Case Reports ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Nucleic Acid Amplification ◽  
Wall Thickening ◽  
Total Proctocolectomy ◽  
High Dose ◽  
Port Site Hernia

Introduction.IsolatedClostridium difficilesmall bowel enteritis is a rare condition with significant morbidity and mortality.Presentation of Case.An 83-year-old female with refractory ulcerative colitis underwent a total proctocolectomy and end ileostomy. Her postoperative course was complicated with return to the operating room for repair of an incarcerated port site hernia. Subsequently, she developed septic shock and multiorgan failure requiring intubation and mechanical ventilation, renal replacement therapy, and high dose vasopressors. Diagnostic workup revealed diffuse small bowel wall thickening on computed tomography scan as well as positive nucleic acid amplification test forC. difficiletoxin B gene. Despite treatment with antibiotics and maximum attempts at resuscitation, the patient expired.Discussion. C. difficileinfection most commonly affects the colon but rarely can involve the small bowel. The pathogenesis ofC. difficileenteritis is unclear but is believed to mirror that of colitis. Surgical patients are susceptible forC. difficileinfection, as they tend to be relatively immunosuppressed in the postoperative period. Radiologic findings of enteritis may mimic those of colitis and this includes small bowel dilation and thickening. Treatment for this condition has not been well established but it is approached similar to colitis.Conclusion.Despite an increase in the number of case reports ofC. difficileenteritis, it continues to be a rare but potentially fatal infection. Clinicians should maintain a high index of suspicion especially in patients with inflammatory bowel disease who undergo colon resections.

scholarly journals A Rare Case of Bleeding Epiphrenic Esophageal Diverticulum From Arteriovenous Malformations

2020 ◽  
Vol 8 ◽  
pp. 232470962090194
Author(s):  
Franklin L. Thelmo ◽  
Harvey Guttmann ◽  
Waqas Ullah ◽  
Ahmad Arslan ◽  
Eugen Brailoiu
Keyword(s):  
Arteriovenous Malformations ◽  
Argon Plasma Coagulation ◽  
Argon Plasma ◽  
Rare Condition ◽  
Motility Disorder ◽  
Esophageal Diverticulum ◽  
Unique Case ◽  
Plasma Coagulation ◽  
Pulmonary Pathology ◽  
Epiphrenic Esophageal Diverticulum

Epiphrenic esophageal diverticula (EED) is a rare condition that usually presents with dysphagia in patients with a known motility disorder. In this article, we present a unique case of EED presenting with hemoptysis with clinical workup negative for any pulmonary pathology. Esophagogastroduodenoscopy revealed arteriovenous malformations within the EED successfully managed with argon plasma coagulation (APC), leading to a resolution of the patient’s symptoms.

Late obstruction of an endoscopic third ventriculostomy stoma by metastatic seeding of a recurrent medulloblastoma

2010 ◽  
Vol 5 (6) ◽  
pp. 641-644 ◽  
Author(s):  
Flávio Nigri ◽  
Carlos Telles ◽  
Marcus André Acioly
Keyword(s):  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Rare Condition ◽  
Third Ventriculostomy ◽  
Unique Case ◽  
Tumor Seeding ◽  
The Third ◽  
Late Failure ◽  
Late Closure ◽  
Delayed Closure

Endoscopic third ventriculostomy (ETV) has been established as an effective method in the treatment of tumoral obstructive hydrocephalus. Delayed closure of the ETV stoma has been attributed to scarring involving the third ventricular floor. Secondary obstruction of the stoma due to intraventricular tumor seeding is an extremely rare condition, with only one case described to date. The authors report on a unique case of late closure of the ETV stoma caused by metastatic seeding of a recurrent medulloblastoma 9 years after the initial treatment. The patient was submitted to a second endoscopic procedure in which a reddish mass located just at the third ventricular floor was resected, leading to reopening of the previous ETV stoma. To the best of the authors' knowledge, this case is the first report of an ETV obstruction due to metastatic CSF seeding of a medulloblastoma. In such cases of late failure of the ETV stoma because of tumor obstruction, a second ETV can be safely performed and lead to adequate function of the stoma, even if limited by the aggressive nature of the disease.

Association of Extensive Brain Calcifications, Myelofibrosis, and Retinopathy in a 12-Year-Old Child

2008 ◽  
Vol 11 (2) ◽  
pp. 148-151 ◽  
Author(s):  
Diana Negrón ◽  
Lillian Colón-Castillo ◽  
Ilia Morales-Melecio ◽  
María Correa-Rivas
Keyword(s):  
Bone Marrow ◽  
Fluorescent In Situ Hybridization ◽  
Bone Marrow Cells ◽  
Multiorgan Failure ◽  
Rare Condition ◽  
Chromosome 7 ◽  
Neurological Deficits ◽  
Hybridization Study ◽  
History Of

We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.

Xanthogranulomatous pyelonephritis due to Aspergillus in a non-diabetic older patient

2021 ◽  
Vol 14 (9) ◽  
pp. e245067
Author(s):  
Neha Khilar ◽  
Navneet Gupta ◽  
Prabha Adhikari ◽  
Abhijith Rajaram Rao
Keyword(s):  
Organ Transplant ◽  
Granulomatous Inflammation ◽  
Rare Condition ◽  
Xanthogranulomatous Pyelonephritis ◽  
Transplant Recipients ◽  
Older Patient ◽  
Unique Case ◽  
Left Flank ◽  
Long Duration ◽  
Left Flank Pain

Xanthogranulomatous pyelonephritis is a rare condition characterised by destructive granulomatous inflammation of renal parenchyma. Primary renal Aspergillosis has been reported in patients with immunocompromised states such as diabetes, retroviral disease, organ transplant recipients, etc. We present a unique case of an older adult in his early 60s, presenting with fever and left flank pain with renal angle tenderness, diagnosed with primary renal aspergillosis with xanthogranulomatous pyelonephritis. These symptoms resolved with a long duration of antifungal (itraconazole) therapy and nephrectomy. The unique features are the development of fungal pyelonephritis in the absence of any immunocompromising conditions and the development of xanthogranulomatous changes with no risk factors.

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