Unusual Case Research Articles

An Unusual Case of Adrenocortical Carcinoma with Multiple Facets drenocortical Carcinoma with Multiple Facades: A Case Report

Adrenocortical carcinoma (ACC) is a rare malignant tumour originating from the adrenal cortex. Half of the cases are functional, with ACTH independent autonomous cortisol production being the most common. It is rare for ACC to present with markedly elevated metanephrine levels which is a typical characteristic of pheochromocytoma. We report a case of a large functioning adrenal tumour with overlapping biochemistry features of ACC and pheochromocytoma. Biopsy confirmed the histopathological diagnosis of metastatic ACC.

Use of Comparative Genomics To Resolve an Unusual Case of Aminoglycoside Susceptibility in the Melioidosis Pathogen Burkholderia pseudomallei in Bangladesh.

Melioidosis is an emerging tropical infectious disease with a rising global burden caused by the environmental bacterium Burkholderia pseudomallei. It is endemic in Southeast and South Asia, including Bangladesh. A rare aminoglycoside-susceptible B. pseudomallei isolate (Y2019) has recently been reported from a melioidosis patient in Dhaka, Bangladesh. To understand the geographical origins of Y2019, we subjected it and 10 other isolates from Bangladesh to whole-genome sequencing. In a phylogenetic tree with a global set of B. pseudomallei genomes, most Bangladeshi genomes clustered tightly within the Asian clade. In contrast, Y2019 was closely related to ST881 isolates from Sarawak, Malaysian Borneo, a gentamicin-sensitive sequence type, suggesting infection in Borneo. Y2019 also contained the same gentamicin sensitivity conferring nonsynonymous mutation in the drug efflux pump encoding the amrB gene. In the absence of a full travel history, whole-genome sequencing and bioinformatics tools have revealed the likely origin of this rare isolate.

Endoscopic endonasal resection of olfactory tract hamartoma for pediatric epilepsy.

Non-hypothalamic glioneural hamartomas are rare entities known to cause medically refractory epilepsy. Olfactory bulb hamartomas, in particular, are exceptionally rare. We describe a case of an olfactory bulb hamartoma that was surgically resected at our institution. We also performed a literature review of all glioneural hamartomas and discuss the clinical presentation, diagnosis, and management of these lesions. Herein, we present the unusual case of a typically developing 17-year-old boy with a near life-long history of drug-resistant epilepsy, found to have a 0.8 × 1.0cm right olfactory bulb hamartoma. Endoscopic endonasal trans-cribriform resection of the lesion led to seizure freedom in the 6-month follow-up period (Engel class 1 outcome). Comprehensive literature review revealed only one other sporadic case, which was also successfully treated with total surgical resection. Our case of an olfactory bulb hamartoma adds to the limited literature currently available, illustrating key clinical characteristics of these exceedingly rare lesions and outlining an effective, minimally invasive, and low-morbidity treatment strategy.

An unusual case of Waldenstrom Macroglobulinemia with Mott cell differentiation in bone marrow - orchard of flower appearance.

An unusual case of Waldenstrom Macroglobulinemia with Mott cell differentiation in bone marrow - orchard of flower appearance.

Development of Postsurgical Pyoderma Gangrenosum with New Keloid after Keloid Resection.

Keloids are a dermal fibroproliferative disorder and can arise from trauma, acne, vaccination, and herpes zoster. Pyoderma gangrenosum (PG) is a painful ulcerative skin disorder that is associated with neutrophilic dysfunction. However, the pathophysiologies of keloids and PG are not fully understood. The authors encountered an unusual case of a 24-year-old woman who presented with an anterior chest keloid that bore an ulcer. The keloid was resected along with the ulcer, and histology revealed the ulcer to be a neutrophilic PG ulcer. A year after surgery, another ulcer developed in the scar. The ulcer met the PARACELSUS criteria of a postsurgical PG ulcer. After treatment with systemic prednisone and adalimumab for 250 days, the ulcer re-epithelialized. However, relapsed keloids were then observed at the PG site. Corticosteroid taping may be the safest therapy for patients with a history of PG. Conversely, if there is suspicion that a patient is prone to keloid development, diagnostic biopsies and surgical management of PG ulcers should be avoided or conducted with care.

Chronic recurrent multifocal osteomyelitis: A challenging diagnosis

Introduction. Chronic recurrent multifocal osteomyelitis (CRMO) is a pediatric autoinflammatory disorder that is characterized by multiple sterile inflammatory bone lesions with a relapsing and remitting course. CRMO belongs to the autoinflammatory family of rheumatologic disorders based on absence of significant titers of autoantibodies and autoreactive T-lymphocytes. In absence of pathognomonic clinical, radiographic or pathological features, diagnosis can be challenging. Case presentation. We report an unusual case of a 3-year-old girl presenting back pain, neurogenic bladder and syringomyelia. A tethered cord was diagnosed and treated, improving urinary function. Despite the surgical treatment, back pain was persistent. A whole body MRI showed multiple lesions compatible with chronic recurrent multifocal osteomyelitis. Conclusion. CRMO shares imaging features with other diseases. It is important for neurosurgeons and radiologists to be able to differentiate other diseases from CRMO because prognosis varies from completely benign to frankly malignant.

An unusual case of inflammatory Terrien’s marginal degeneration with pseudo pterygium

An unusual case of inflammatory Terrien’s marginal degeneration with pseudo pterygium

ANCA-negative Crescentric Pauci-immune Glomerulonephritis Associated with Allergic Bronchopulmonary Aspergillosis: A Rare Entity

We present an unusual case of a 23-year-old male presenting with dyspnea, anasarca, and high-colored urine and simultaneously diagnosed as a case of allergic bronchopulmonary Aspergillosis. On detailed investigations, his serologies for vasculitis turned out to be all negative. Renal biopsy revealed pauci-immune crescentic glomerulonephritis. This rare report explains that the underlying immunological response to Aspergillus antigen can be the cause for casual association between the two entities.

Coma Due to Artery of Percheron Infarction: An Unusual Case Report

Ischemic stroke attributable to obstruction of the artery of Percheron (AOP), an infrequent anatomical arterial variant perfusing both medial thalami, can pose difficult diagnostic challenges. Obstruction or occlusion of the AOP results in bilateral paramedian thalamic infarction which is an unusual and rare vascular cause of coma. We present a 65-year-old male patient who came to the emergency department with altered sensorium for 10 days. The initial computed tomography (CT) brain was normal, followed by subsequent CT revealing an ill-defined hypodensity in the ventromedial aspect of the left thalamus and ventral aspect of the midbrain. T2/fluid-attenuated inversion recovery magnetic resonance imaging illustrated hyperintensity in the mesencephalon and bilateral paramedian thalami with restricted diffusion, suggesting an AOP infarct.

Ethylene Glycol Poisoning with Acute Liver Injury Due to Delayed Diagnosis: An Autopsy Case Report and Literature Review

Ethylene glycol (EG), commonly used as antifreeze, is frequently ingested accidentally or in suicides, and causes acute renal failure. We report an unusual case of EG poisoning with acute liver injury. After vomiting and loss of consciousness, a 48-year-old male was admitted to the emergency room. Despite prompt conservative treatment for metabolic acidosis, kidney function deteriorated, necessitating the continuous renal replacement therapy. Blood toxicology results, showing EG levels of 510 mg/L, arrived 10 hours after admission. Oral ethyl alcohol therapy commenced 16 hours post-admission. By 36 hours, liver function tests indicated significant liver damage, and the patient died 45 hours upon admission. On autopsy, histological findings were hepatic centrilobular necrosis, cerebral perivascular neutrophilic and lymphocytic infiltration with calcium oxalate deposition, and renal tubular necrosis with calcium oxalate deposition. EG concentrations in the blood and gastric contents were 18.7 mg/L and 45.0 mg/L, respectively. Glycolic acid and oxalic acid, metabolites of EG produced by alcohol dehydrogenase in the liver, cause metabolic acidosis, renal tubular calcium oxalate deposition, and acute renal failure, leading to death. Generally, because fomepizole or ethyl alcohol block alcohol dehydrogenase in the liver, acute liver injury by EG poisoning is rare. To the best of authors’ knowledge, only one relevant report was found in the literature described a case in which EG caused centrilobular necrosis in liver. In the current case, delays in diagnosis and antidote therapy without gastric lavage allowed continued metabolism of EG which led to acute liver injury and acute renal failure.

Sindrome mutacional de una voz operística

The spontaneous mutation of the voice in an opera singer is a very rare fact and worthy of publication. For the first time in the world, this mutational syndrome of a single voice that has been controlled for years and has been recorded over time has been described in all clinical, phoniatric, operatic and laryngological details. We are referring to an unusual case of an opera singer affected by a pituitary adenoma, undiagnosed, for many years, which led him to change his tessitura progressively, going from tenor to bass. This study analyzes the evolution of their laryngeal, stroboscopic, phoniatric and vocal parameters over the years and their persistence even after pituitary surgery.

«Исаии ныне пророка глас...»: о необычной атрибуции ветхозаветного пророчества в древней церковной гимнографии

The article considers an unusual case of "incorrect" attribution of the words of the prophet Malachi to the prophet Isaiah on the example of two hymns of the service of the Nativity of St. John the Baptist (24 June), written by St. John of Damascus (7th – 8th centuries) and St. Kassia (9th century). According to the author, this attribution is due to the fact that the hymnographers did not directly use the text of the prophetic book, but quoted this prophecy in the transmission of Mark 1. 2. The form of the quoted Gospel text corresponded to the Alexandrian text-type of New Testament manuscripts, where the prophet Isaiah is indicated as the author of the prophecy quoted in Mark 1. 2. The following is a discussion of the possible reasons for the use by the hymnographers in question of the New Testament text instead of the Old Testament text: (1) the words of Mark 1. 2 (and the parallels in Matt 11. 10 and Luke 7. 17) may have been more familiar to Christians of that time than their Old Testament prototype; moreover (2) the Gospel restatement of the prophecy revealed its meaning, pointing to the divinity of Jesus Christ, as well as clarifying the sense of John the Baptist's ministry. The reasons for the use of Mark 1. 2 (despite the problematic character of these apostolic words because of the unusual attribution of prophetic words) could be the prominent position of this verse at the beginning of the Gospel of Mark and its connection with the proclamation there of the messianic dignity of Jesus Christ, as well as the fact that the hymnographers continued the patristic tradition of advocacy of the correctness of the words of Mark 1. 2. At the end of the article some peculiarities of the use and interpretation of the text of the Holy Scriptures in Byzantine hymnography are pointed out on the basis of the material considered. First of all, it is the use of the Old Testament words in their New Testament version, because this version of the words is better known to Christians and has already been interpreted by the apostles themselves. It is no less important that in their use and interpretation of the biblical text the hymnographers clearly followed the preceding patristic exegetical tradition, including trust in the words of the Holy Scripture.

Systemic ALK-negative anaplastic large cell lymphoma with NPM1::TYK2 rearrangement.

Anaplastic large cell lymphoma (ALCL) is a rare subtype of non-Hodgkin lymphoma, with most cases harboring ALK gene rearrangement (ALK + ALCL); however, 20-50% of ALCLs do not have the rearrangement (ALK- ALCL) but exhibit distinct genetic alterations. In this report, we present an unusual case of systemic ALK- ALCL with NPM1::TYK2 fusion. Diagnosis of this case was challenging prior to the NGS findings. A comprehensive panel of immunohistochemical and in-situ hybridization studies was conducted. FISH assays were utilized to target the rearrangements of DUSP22 and TP63 genes. Moreover, next-generation sequencing (NGS) assays were performed to detect clonal rearrangements of IGH and TRG genes, somatic mutations, and potential fusions. The lymphoma cells in this case are negative for all hematolymphoid markers stained, except for CD30 expression and focal and weak CD43 expression. However, NGS studies detected clonal TRG rearrangement and NPM1::TYK2 rearrangement, which aid in the diagnosis of ALK- ALCL. NPM1::TYK2 rearrangement is a rare genetic alteration that has been reported in rare cases of primary cutaneous ALCL, mycosis fungoides, and lymphomatoid papulosis. To the best of our knowledge, this is the first reported instance of such rearrangement in systemic ALK- ALCL.

Strongyloides Hyperinfection Syndrome and Severe Malnutrition in an Immunocompetent Patient

Aims: Strongyloides Hyperinfection Syndrome (SHS) and disseminated Strongyloidiasis have been extensively reported in immunocompromised patients. In SHS, large parasitic loads of larvae cause symptoms mainly limited to the gastrointestinal tract and lung, whereas in the disseminated form multiple organs can be affected with high mortality if inappropriately treated. Case Presentation: Here we present an unusual case of a 28-year-old (HIV negative) patient with confirmed untreated Helicobacter pylori, symptoms of gastric and pulmonary hyperinfection complicated with severe weight loss, respiratory symptoms with hemoptysis and refeeding syndrome. Discussion: The diagnosis was based on histological confirmation of the parasite in the gastric mucosal biopsy and stool analysis. The patient was successfully treated with ivermectin and discharged in reasonable medical conditions. Conclusion: This case illustrates the importance of considering Strongyloides Hyperinfection in immunocompetent patients presenting with chronic vomiting, weight loss and anemia, especially in developmental countries.

Migration of an intrauterine contraceptive device into the bladder complicated by stone formation an exceptional complication: case report and literature review

BackgroundWe report a rare and unusual case of intravesical migration of an intrauterine device with stone formation. The intrauterine device (IUD) is the most common method of reversible contraception in women. However, its insertion is not without risk, it can cause early or late complications. IUD can perforate the uterus wall and migrate into adjacent structures.Case presentationA 35 year-old female 5 gravid, 4 para has been benefited from intrauterine contraceptive device (IUCD) 5 years ago, she was presented to gynecological consultation for chronic pelvic pain with urinary symptoms. There was history of a good IUD insertion 5 years ago, considered expelled after one month of its pose. Physical examination was normal, but a pelvic ultrasound and a plain abdominal radiography allowed the detection of an IUD outside the uterine cavity, but inside bladder. A diagnostic and therapeutic cystoscopy was performed, and the IUD with calculus was successfully removed. There were no postoperative complications.ConclusionThis case is reported to highlight and to reiterate the need to think about one of the rare complication of IUD insertion, which every practitioner must know, it’s the transuterovesical migration, before concluding wrongly to its expulsion. It’s a consequence of, non-compliance with the rules for inserting an IUD and poor monitoring. The evolution towards calcification is a certain consequence; its screening involves rigorous clinical monitoring.

Finding of Isolated Agenesis of the Septum Pellucidum in Neurotrauma: Report of an Unusual Case

Finding of Isolated Agenesis of the Septum Pellucidum in Neurotrauma: Report of an Unusual Case

An Unusual Case of Liver Cirrhosis Associated With Castleman's Disease

An Unusual Case of Liver Cirrhosis Associated With Castleman's Disease

CLL-033 An Unusual Case of Renal Infiltration in Chronic Lymphocytic Leukemia

CLL-033 An Unusual Case of Renal Infiltration in Chronic Lymphocytic Leukemia

Central retinal vein occlusion after infliximab therapy in a young patient with ulcerative colitis

AbstractInflammatory bowel disease (IBD) is a chronic condition, characterized by recurrent inflammation of the gastrointestinal tract. While the primary focus of IBD management consists in controlling gastrointestinal symptoms, IBD also presents an increased risk of thromboembolic complications. Tumor necrosis factor alpha (TNF‐α) inhibitors, namely infliximab, have become increasingly common in the management of multiple chronic inflammatory diseases such as IBD. However, recent studies have shown an association between treatment with infliximab and an increased thrombotic risk. We report an unusual case of retinal vein thrombosis in a patient with ulcerative colitis (UC) that occurred during infliximab infusion. This case highlights the need to remain vigilant when administering infliximab to individuals with IBD, particularly those with additional risk factors for thrombosis.

Delayed Wound Healing in a Young Patient with TNXB Variants and the Role of WES

After decades of quality improvement efforts, surgical site infections and abnormal wound healing remain intermittent complications in surgery. In both cases, the complication and abnormality may be superficial, restricted to the skin, or deeper within the tissue. The synthesis of connective tissue proteins, critical for structural support as part of the extracellular matrix, is under the control of multiple genes, forming a complex adaptive network. We report an unusual case of delayed and abnormal wound healing with chronic infection in a 16-year-old patient following surgery for scoliosis. Skin patch test showed that he is allergic to cobalt, a component of fixation hardware used in his surgery. He underwent evaluation by clinical genetics with whole exome sequencing (WES) which showed two (maternally and paternally inherited) variants in the TNXB ( Tenasin XB) gene. These two variants are variants of uncertain significance (VUS). TNXB encodes tenascin-XB which is an extracellular matrix glycoprotein located primarily in the basement membrane. Autosomal recessive pathogenic and likely pathogenic variants in TNXB cause TNXB-related classical-like Ehlers-Danlos Syndrome. At present, there are no causal linkages of these VUSs in TNXB to abnormal wound healing. However, as WES becomes more affordable, its use will increase and therefore it is important that we start to document such associations.