Rare Coincidence Research Articles

Rare Coincidence or Secondary Process: Membranous Nephropathy with ANCA-Associated Vasculitis

Rare Coincidence or Secondary Process: Membranous Nephropathy with ANCA-Associated Vasculitis

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.

A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature. His sister showed HCM, myocardial hypertrabeculation and fibrosis, sensorineural deafness, and congenital genitourinary malformations. Their father had left ventricular hypertrophy (LVH). The proband's eldest daughter demonstrated developmental delay and seizures. We performed a clinical examination and whole-exome sequencing for all available family members. All patients with HCM/LVH shared a c.4411-2A>C variant in ALPK3, a recently known HCM-causative gene. Functional studies confirmed that this variant alters ALPK3 canonical splicing. Due to extracardiac symptoms in the female patients, we continued the search and found two additional single-gene disorders. The proband's sister had a p.Trp329Gly missense in GATA3, linked to hypoparathyroidism, sensorineural deafness, and renal dysplasia; his daughter had a p.Ser251del in WDR45, associated with beta-propeller protein-associated neurodegeneration. This unique case of three monogenic disorders in one family shows how a comprehensive approach with thorough phenotyping and extensive genetic testing of all symptomatic individuals provides precise diagnoses and appropriate follow-up, embodying the concept of personalized medicine. We also present the first example of a splicing functional study for ALPK3 and describe the genotype-phenotype correlations in cardiomyopathy.

Rare coincidence: Macro-thyroid-stimulating hormone and multiple manufacturer-specific interferences in thyroid hormone immunoassays.

Immunoassays are widely used for laboratory assessment of endocrine functions including thyroid hormones. While usually adequate for patient evaluation, they are known to potentially suffer from interference from a variety of factors. We report the case of a 44year-old male patient without clinical symptoms of thyroid disease who presented for specialist evaluation after pathological thyroid function tests prompted a transferal by his primary care practitioner. Thyroid function tests showed discrepant results across immunoassays and platforms of different manufacturers. Polyethylene glycol precipitation prompted the diagnosis of macro-thyroid-stimulating hormone, while heterophilic and non-specific antibody blocking reagents proved ineffective in eliminating the interference in thyroid-stimulating hormone, free triiodothyronine and free thyroxine measurements. Further assessment ruled out a diagnosis of familial dysalbuminemic hyperthyroxinemia, leaving an exclusion diagnosis of manufacturer-specific interference in free triiodothyronine and free thyroxine assays due to unknown factors. Both clinicians and laboratory specialists must be aware of potential interference in immunoassays which otherwise might be misleading, potentially triggering unnecessary (invasive) follow-up procedures or therapeutic interventions. Close communication is required for successful troubleshooting. To our knowledge, no other case of both macro-thyroid-stimulating hormone and manufacturer-specific interference in a single patient has been documented thus far.

Metastatic right atrial mass in the presence of atrial septal defect: A rare clinical coincidence

Key Clinical MessageThe key takeaway from this clinical scenario is to choose the most appropriate and reasonable treatment plan when dealing with a patient who has atrial septal defect (ASD) and concurrent atrial and mediastinal masses. In such cases, a heart‐oncology team should make the therapeutic decision.AbstractRight atrial masses are not pretty rare and might be a diagnostic challenge. Thrombosis, tumors, and vegetations are primary differential diagnoses. Workup for these masses usually includes multimodality imaging and biopsy in selected cases. We report a case of a 37‐year‐old lady who presented with cough, dyspnea, and head and neck swelling after a cesarean section. Echocardiography revealed a right atrial mass accompanied by a secundum type atrial septal defect (ASD). Pulmonary CT Angiography was performed, in which a lobulated mass in the anterior mediastinum was detected, and a heart‐oncology team made the therapeutic decision. The patient was scheduled for surgical ASD closure and concomitant tissue biopsy. The pathology results were in favor of poorly differentiated germ cell tumors, and chemotherapy was started following the surgery. After two sessions of chemotherapy, the tumor did not respond to the primary regimen. Thus, an updated regimen was initiated. Compliance with the updated regimen was acceptable, and the patient is currently under treatment and follow‐up.

Rare Coincidence of Gastric Cancer and Large Myofibroblastic Tumor of The Spleen

Rare Coincidence of Gastric Cancer and Large Myofibroblastic Tumor of The Spleen

Percutaneous Mitral Balloon Valvuloplasty in a Patient with Situs Inversus with Dextrocardia: A Case Report

Situs inversus with dextrocardia is a rare congenital disorder. There is a rare coincidence of rheumatic severe mitral stenosis in a patient with situs inversus and dextrocardia. Most of these patients undergo surgery due to technical difficulty, here we report a case of a 41-year-old male managed successfully with percutaneous intervention. Percutaneous mitral balloon valvuloplasty (PMBV) is feasible in these rare group patient with some additional modifications of the standard Accura balloon technique. Procedure should be carried out under Transthoracic echocardiography (TEE) guidance with surgical team standby in case emergency need of surgery. Despite all the precautions, careful watch on these patients has to be kept during immediate post procedure phase for at least 12 hours for any untoward complication.

Overlap of Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis - A Rare Coincidence or a New Syndrome [Retraction

[This retracts the article DOI: 10.2147/IJGM.S11201.].

Genetic inheritance in tandem: Non-syndromic autosomal recessive congenital ichthyosis with beta-thalassaemia: A rare coincidence

Ichthyosis belongs to the group of Mendelian disorders of cornification. Congenital ichthyosis is inherited as an autosomal recessive trait, so it is also known as autosomal recessive congenital ichthyosis (ARCI). ARCI is classified into two types: syndromic and non-syndromic ARCI. Non-syndromic ARCIs include lamellar ichthyosis, congenital ichthyosiform erythroderma and Harlequin ichthyosis. Syndromic-ARCI is associated with multisystemic involvement, which includes Netherton syndrome, Chanarin-Dorfman disease and others. Other systemic diseases associated with ichthyosis include Gaucher disease type II and hypothyroidism. Chanarin-Dorfman and Gaucher disease-II are additionally associated with hepatosplenomegaly (HSM) and anaemia. We describe a child of congenital ichthyosis with HSM and anaemia thought to be syndromic-ARCI, but diagnosed for beta-thalassaemia (b-thal) concurrently. An infant presented with peeling skin along with absent sweating since birth and recent onset paleness of the body. Examination revealed Ichthyosis (Lamellar-variant), severe pallor and HSM, raising the possibility of Chanarin-Dorfman syndrome and Gaucher’s disease. The investigation revealed an Erlenmeyer flask deformity of the knee, but no Gaucher’s cells were found in the bone marrow. In the absence of lipid vacuoles leaden leukocytes (Jordan’s anomaly), Chanarin-Dorfman disease was also ruled out. Haemoglobin (Hb) high-performance liquid chromatography revealed β-thal major, and both parents were traits, giving us the diagnosis, which was further confirmed by the next-generation gene sequencing for clinical exomes. This report was to highlight non-syndromic ARCI involving the CYP4F22 gene variant, which is a rare finding, and the association of such ichthyosis with β-thal major was an unexpected result. Genetic counselling was provided to the parents in light of the autosomal recessive nature of both diseases. Genes of congenital ichthyosis and β-thal were unrelated, but simultaneous expressions of two autosomal-recessive diseases together are it merely by chance or a new entity.

Cerebrospinal fluid–lymphatic fistula in a child with generalized lymphatic anomaly treated with targeted blood patch — a rare case report and review of the literature

Spontaneous intracranial hypotension may result in debilitating postural headaches and severe neurological symptoms due to secondary cerebellar sagging. The most common cause is the cerebrospinal fluid (CSF) leak within the spinal canal. Although previously reported in only a few cases, also paraspinal lymphatic malformations causing vertebral bone destruction may occasionally result in CSF leak to these pathological formations. Here, we present a case of a 9-year-old girl with generalized lymphatic anomaly (GLA) presenting with severe postural headache. Radiological imaging revealed a typical feature of cerebellar sagging. Myelography localized the CSF leakage into vertebral bodies of C7 and Th1, which both were partly involved in pathological paravertebral masses of known lymphatic anomaly, and from there along the right C8 nerve root sleeve into the anomaly. As the C8-nerve root could not be ligated due to the risk of significant neurological injury, we attempted image-guided targeted percutaneous epidural placement of a blood patch directly into the foramen at the affected level. The procedure resulted in obliteration of the fistula and regression of cerebellar sagging, with significant relief of symptoms. Although it is an extremely rare coincidence, patients with paraspinal lymphatic malformations may develop intraspinal CSF leak into these pathological formations. The present case report suggests that besides a direct surgical obliteration of the fistula and sacrificing the nerve root, a targeted percutaneous epidural blood patch may be a possible alternative in the case of a functionally important nerve root.

Coincidence of chronic rhinosinusitis with nasal polyps and neurofibroma

Background: Nasal polyps are painless inflammatory lesions originated from around the middlemeatus or paranasal sinus cavity; while neurofibroma is benign peripheral nerve sheath tumor. Purpose:To report a rare case of neurofibroma concurrently with nasal polyps in chronic rhinosinusitis. Casereport: A 64-year-old female with chief complaint congestion on the right nose cavity. There was a mass on both nasal cavities. Patient diagnosed with benign mass at right nasal cavity and chronic rhinosinusitis with nasal polyps at left nasal cavity; with a differential diagnosis of chronic rhinosinusitis with bilateral nasal polyps. Computer tomography scan results showed homogeneous isodense lesion in the right nasal cavity, and mucosal thickening in left nasal cavity and maxillary sinus. Patient was managed with total extirpation of the bilateral nasal cavity mass and functional endoscopic sinus surgery. Pathological examination revealed neurofibroma in the right nasal cavity and polyps in the left nasal cavity. Clinical question: “How to differentiate inflammation with tumor of nasal and paranasal sinuses? Is there a causal relationship?” Review method: Literature searching was performed with the keywords “nasal cavity neurofibroma”, AND “nasal polyps”, AND ”chronic rhinosinusitis” through database Google Scholar, PubMed, and hand searching/e-book. Result: There were 11 literatures published in the last 5 years, and 7 articles relevant with the subject. Conclusion: Chronic rhinosinusitis with nasal polyps, along with neurofibroma on nasal cavity is a rare co-incidence, and there was no correlation between those lesions. Pathological examination is a gold standard in differentiating a definite diagnosis of neurofibromas and polyps.Keywords: nasal cavity neurofibroma, nasal polyps, chronic rhinosinusitis

Heart Tumor in a Girl with Nephrotic Syndrome, a Possible Association or a Rare Coincidence?

Heart Tumor in a Girl with Nephrotic Syndrome, a Possible Association or a Rare Coincidence?

Double whammy – High voltage optic neuropathy and compressive optic neuropathy

Electric current flows in the body between two contact points. The degree of damage caused by the current is dependent on voltage intensity, tissue resistance, type of current, duration and area of contact and the route the current traveled within the body. Ophthalmic injuries are common with electrical damage to the body. Blepharospasm, keratopathy, uveitis, corneal opacities, cataracts, vitreous hemorrhage, retinal edema, macular hole and vascular occlusions are the frequently encountered ones. Here in this case, we report a very rare coincidence of optic neuropathy triggered by high voltage electrical injury (electrocution) and an occult pituitary macroadenoma which coexisted in the same individual causing compressive optic neuropathy. The patient was treated initially as optic neuropathy with steroids and later the macroadenoma was excised under neuro-surgical guidance. This case necessitates the importance of investigating temporal pallor in young individuals and arrival at a proper diagnosis which otherwise could be vision as well as life threatening.

Pulmonary valve stenosis in a recipient twin in twin-to-twin transfusion syndrome with successful balloon valvuloplasty after birth: a case report

BackgroundPulmonary stenosis (PS) is a congenital heart diseases (CHDs) with a spectrum of stenosis. Monochorionic (MC) twins are at increased risk of CHDs, especially acquired CHDs in twin-twin transfusion syndrome (TTTS). PS/Pulmonary atresia (PA) is a rare coincidence with TTTS. MC twin pregnancies have increased in last decades due to increasing in maternal age and extensive use of assisted reproductive technologies. Therefore, attention to this group is important for heart abnormalities, especially in twins with TTTS. Multiple cardiac abnormalities in MC twins with TTTS are to be expected due to cardiac hemodynamic changes and may be eliminated by Fetoscopic laser photocoagulation treatment. Prenatal diagnosis of PS is necessary given the importance of treatment after birth. Case presentationWe here present a case of coexistence of TTTS with PS in a growth restricted recipient twin who successfully treated with balloon pulmonary valvuloplasty in neonatal period. Also, we detected infundibular PS after valvuloplasty that treated with medical therapy (propranolol).ConclusionsIt is important to detect acquired cardiac abnormalities in MC twins with TTTS, and follow them up after birth to determine the need of intervention in neonatal period.

Central nervous system reactivation of herpesviridae family in patients with COVID-19.

The objective of this study is to describe our COVID-19 patients with herpesviridae reactivation in the central nervous system (CNS). Four patients were described including two with acute encephalitis and two with acute encephalomyelitis. Three of four patients had abnormal findings on neuroimaging studies. One of four patients died, one survived with major neurological sequelae, and two others fully recovered. Herpesviridae reactivation in the CNS in patients with COVID-19 is a rare but serious coincidence. The optimal therapeutic management has not been investigated and until more information is available, it is prudent to treat these patients with appropriate antivirals with or without anti-inflammatory agents.

GFAP- and Vimentin-Containing Stuctures in Human Pineal Gland

The pineal gland plays a key role in coordinating various bodily functions. The main part of the pineal cells are pinealocytes, and the second largest are glial cells, the data on which are contradictory. The purpose of this study is to investigate the astroglial cells in the human pineal gland using immunohistochemistry with transmitted light microscopy and, for the first time, with confocal laser microscopy. Astrocytes were labeled with antibodies to glial fibrillary acidic protein (GFAP) and vimentin. A large number of GFAP- and vimentin-expressing structures were revealed in the human pineal gland. GFAP was localized in polygonal cells located among pinealocytes in lobules, while vimentin was localized in blood vessels and rounded cells localized mainly in trabeculae and partially in pineal lobules. Both GFAP- and vimentin-immunoreactive cells gave rise to several long branching processes that penetrated the entire pineal parenchyma, forming a dense network, and ended on the surface of the pineal gland, blood vessels, and around calcifications. GFAP-immunoreactive fibers tightly entwined all calcifications (single and in groups), while vimentin-immunopositive processes surrounded only a part of them. The study of consecutive sections of the pineal gland showed very rare (if any) coincidence of the localization of GFAP and vimentin in pineal cells. The obtained data suggest that there are two separate populations of astrocyte-like cells in the human pineal gland, that express GFAP or vimentin and differ not only cytochemically, but also in morphological features and localization of cell bodies, as well as in the distribution of processes.

Fuchs endothelial corneal dystrophy and keratoconus: A very rare coincidence

Fuchs endothelial corneal dystrophy and keratoconus: A very rare coincidence

The Presence of ANCA in IgA Crescentic Nephropathy Does Not Lead to Worse Prognosis with Intensive Rescue Treatment

Immunoglobulin A nephropathy (IgAN) is the most common glomerulonephritis worldwide. The concomitant presence of both crescentic proliferation and anti-neutrophil cytoplasmic autoantibodies (ANCA) in this pathology represents a rare coincidence. However, it is not clear to what extent the presence of ANCA (IgA or IgG) in these patients could have any clinical significance. The aim of the current work is to describe the presence of ANCA (IgA or IgG) in patients with IgAN and crescentic proliferation and its possible clinical implications. We retrospectively recruited all patients in our center with a histological diagnosis of IgAN with crescentic proliferation between January 2013 and December 2020. The main demographic and clinicopathologic data, fundamental histological characteristics, as well as the treatments implemented and main kidney outcomes, were collected and analyzed at a 6 and 12-month follow-up. Between January 2013 and December 2020, a total of 17 adults were diagnosed with concomitant crescentic proliferation through a kidney biopsy of IgAN. Five (29.4%) patients showed ANCA, three (60%) showed IgA-ANCA and two (40%) showed IgG-ANCA. All ANCA-positive patients had some degree of crescentic proliferation. At diagnosis, the mean age of patients was 48 years old (range: 27-75). Nine of them were women (52%) and the most common clinical presentation was hypertension (71%). At the time of biopsy, the mean serum creatinine and proteinuria were 2.2 mg/dL (DS 1.42) and 3.5 g/mgCr (DS 1.22), respectively, with no statistical differences between ANCA-positive and -negative patients. Histological analyses showed that 11 out of the 12 (91%) ANCA-negative IgAN patients displayed less than 25% cellular crescents, whereas 100% of ANCA-positive IgAN patients displayed more than 25% cellular crescents (p = 0.04). Notably, five (30%) patients displayed fibrinoid necrosis, with four of them (80%) being IgAN-ANCA-positive (p = 0.01). Only one ANCA-negative patient needed renal replacement therapy (RRT) upon admission (5%). The mean serum creatinine and proteinuria were 1.94 mg/dL (DS 1.71) and 1.45 g/gCr (DS 1.78), respectively, within 6 months of immunosuppressive therapy. At 12-month follow-up, the mean creatinine was 1.57 mg/dL (DS 1). Four (23.5%) patients needed RRT at the end of the follow-up and four (23.5%) patients died. Probably due to the limited number of IgAN-ANCA-positive and IgAN-ANCA-negative patients, no significant differences were found between the clinical and laboratory characteristics. IgAN-ANCA-negative patients seemed to display less extracapillary proliferation than IgAN-ANCA-positive patients, who tended to show significantly higher fibrinoid necrosis. There were no differences regarding renal prognosis and patient survival after aggressive immunosuppressive therapy within 6 and 12 months when comparing the two samples.

Two views on the family succession problem with regards to Nikolai Platonovich Bisenkov and Leonid Nikolaevich Bisenkov anniversaries

It is known that N.I. Pirogov sharply criticized nepotism in his diary in the history of the Imperial Medical and Surgical Academy in the middle of the 19th century, designating this phenomenon with the term nepotism. The great surgeon and patriots position caused goes against other examples when family relations became a springboard into our academys future. It is a rare coincidence when the same family celebrates the major father and son anniversaries. The family of Professors Bisenkov marked two anniversaries in 2021. The dates coincidence became the reason for the analysis of the relations that developed at different stages of a complex life associated with wars, surgery, and teaching. Most of the articles authors witnessed the exchange of life and surgical experience of the Professors Bisenkovs, and were participants in the acute discussions and course of scientific research in the thoracic surgery field. Nikolai Platonovich Bisenkov lived by the plans, creative successes, and failures of his son and compared his front-line experience as a medical battalion surgeon with new surgery possibilities. His insight and critical assessment of the changes that he learned about through daily information from his son were surprising, about the current clinical work of the department. Many new research technologies were initiated at the Department of Operative Surgery, which was headed by Bisenkov Sr., thanks to close contact through his son in the clinic for the highest level and fame known to surgeons of all the Soviet Unions republics. Personal views, creative, and scientific continuation of Nikolai Platonovich was found to be in continuation in his son. Leonid Nikolaevich defined the main paradigms of his work as the introduction into the clinical practice of the department of video thoracoscopic interventions for breast injuries, original a minimally invasive treatment method of purulent-septic diseases, the development of the most complex surgical interventions extended and combined resections for paracancrotic changes in patients with lung cancer, as well as simultaneous operations for polyneoplasia, high-quality training of young surgeons. Nikolai Platonovich and Leonid Nikolaevich Bisenkov had warm relations as father and son, as two comrades, as two surgeons with combat experience, and as two brilliant scientists.

S2676 A Case of Hemorrhagic Cholecystitis and Bleeding Duodenal (Ulcer): A Rare Coincidence!

Introduction: Hemorrhagic cholecystitis is a life-threatening condition and may result in death if not treated promptly. Here, we present an atypical case of hemorrhagic cholecystitis that presented with melena but no abdominal pain. Case Description/Methods: A 43-year-old man with a past medical history of hypertension and paraplegia presented to the hospital with black tarry stools for 1 day. He denied fever, abdominal pain, and diarrhea. Vital signs were normal. Physical examination was significant for conjunctival pallor. Laboratory showed Hb 6g/dL, Hct 22.3%, WBC 8.20 k/µL, platelet 339 k/µL. The patient was transfused but continued to bleed and was taken to endoscopy. Further history revealed that the patient is T8 level paraplegic. Esophagogastroduodenoscopy showed a duodenal ulcer with oozing hemorrhage which was treated with thermotherapy; however, oozing continued, thermotherapy was avoided to prevent deep tissue injury and perforation as exact bleeding source could not be identified. Interventional radiology was consulted for embolization. After embolization, his hemoglobin continued to drop requiring blood transfusion. Computed tomography (CT) with angiography of the abdomen and pelvis was then performed which revealed a small focal area of active bleeding in the gallbladder. Patient was taken for emergent cholecystectomy. Intraoperative finding revealed active bleeding with clot in the gallbladder lumen. Following surgery, patient’s hemoglobin stabilized. Histopathology of the resected gallbladder revealed multiple stones impact in the gallbladder wall. (Figure) Discussion: Hemorrhagic cholecystitis is an extremely rare complication of cholecystitis. Our patient has no risk factor for developing hemorrhagic cholecystitis and his clinical presentation was ambiguous since the patient is paraplegic and does not have normal sensation in his abdomen. Patients with upper gastrointestinal bleeding (UGIB) usually undergo EGD for the management of the bleeding. However, UGIB refractory to an endoscopic treatment often requires endovascular intervention by radiology and surgery as appropriate. In our case CT angiogram of abdomen and pelvis revealed second source of the bleeding which was in the gallbladder leading to emergent cholecystectomy.This is a rare coincidence in which a patient with simultaneous bleeding from duodenal ulcer also found to have hemorrhagic cholecystitis. One hypothesis includes cholecystoduodenal (bilioenteric) fistula which is the infrequent complication of untreated cholelithiasis.Figure 1.: (A) Laparoscopic performed for total cholecystectomy showed actively bleed with clot in gall bladder lumen (B) EGD showed duodenal ulcer with oozing hemorrhage (C) Ongoing bleeding despite thermotherapy (D) CT angiography of abdomen and pelvis showed contrast extravasation in the gall bladder lumen (yellow arrow) suggesting active bleeding into gall bladder.

Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence?

Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. A literature review was carried out to see if these two disorders could be linked. Case presentation: A young male presented for incidentally found renal cysts. Kidney function was well preserved, but the patient had positive family history of ADPKD. During routine follow-up, a history of aortic valve disease was mentioned. This, along with the patient’s tall, lean stature and long extremities raised the concern for MFS. A detailed physical examination and workup by other specialists confirmed a clinical diagnosis of MFS. They had no known family history of MFS. The patient has been followed at Associates in Kidney Care, Des Moines, Iowa, USA, for the past 2 years. Discussion: There are several reports of overlap of ADPKD and connective tissue disorders with an overlap of vascular disorders. ADPKD and MFS are caused by totally different mutations. However, the literature review showed that vascular abnormalities and connective tissue diseases may be more common with ADPKD. Studies have shown that there could be a common signalling pathway for connective tissue disorders when both genes are affected simultaneously. Further research is needed to identify these pathways. More frequent screening of vascular abnormalities might be warranted in those with both phenotypes.