Unusual Association Research Articles

Gas wala pain: an unusual association of acute gastric dilatation and myocardial infarction.

Gas wala pain: an unusual association of acute gastric dilatation and myocardial infarction.

Fahr's syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder.

Fahr's syndrome, also known as bilateral striopallidodendate calcinosis, is a rare inherited neurodegenerative illness characterized by abnormal calcium deposition in several areas of the brain, resulting in a wide range of neuropsychological symptoms. Fahr's syndrome, secondary to autoimmune polyendocrine syndrome type 1, which includes adrenal insufficiency and mucocutaneous candidiasis in addition to hypoparathyroidism, is exceedingly rare. No case report has been documented to date to show the co-occurrence of Fahr's syndrome and neuromyelitis optica spectrum disorder. Here, we discuss the case of a 30-year-old man with a previous history of seizures and symptoms of ectodermal dystrophy presented with seizures, left-sided hemiparesis, dysarthria, and other characteristics indicative of severe hypocalcemia. The neuroimaging findings strongly suggested Fahr's syndrome, with radiographic evidence of Neuromyelitis optica spectrum disorder as longitudinal extensive transverse myelitis in the cervical spinal cord, high titers of serum aquaporin-4 antibodies, and demyelinating neuropathy on nerve conduction studies. This distinct neuropsychological presentation and neuroimaging findings led to the diagnosis of Fahr's syndrome as a result of hypoparathyroidism caused by autoimmune polyendocrine syndrome type 1 with cooccurrence of neuromyelitis optica spectrum disorder. The patient's clinical symptoms improved considerably after he was treated based on a provisional diagnosis. The clinical importance of our case is significant for both neuropsychiatrists and endocrinologists, as autoimmune polyendocrine syndrome should be considered as the etiology of Fahr's syndrome. This case report also aims to report this unusual association of Neuromyelitis optica spectrum disorder with Fahr's syndrome to give the future prospective to know whether this association is incidental or there is a missing link between these two different disorders.

An unusual blend; IgA nephropathy and anti GBM disease

Anti-glomerular basement membrane (anti-GBM) disease is a rare illness with a wide spectrum of clinical manifestations. The typical presentation (90% of cases) of anti-GBM is with a rapidly progressive glomerulonephritis (RPGN) in conjunction with pulmonary disease in 25-60% of cases. In its atypical form – seen in 10% of cases, anti GBM disease takes on a chronic form, presenting with long standing renal dysfunction, proteinuria and better renal prognosis when compared to the typical form of the disease. The known associations of anti-GBM disease are with anti-neutrophil cytoplasmic antibody (ANCA)vasculitis and membranous nephropathy. In this case report, a young lady with atypical anti-GBM disease is described with a most unusual association with IgA nephropathy. This association is rare and only described in few case reports worldwide. The possible pathogenesis, clinical features, treatment and outcome of this disease are also elucidated.

A 5-year old male with cyanosis: A case report of an unusual association with SARS-cov-2 antibodies

A 5-year old male with cyanosis: A case report of an unusual association with SARS-cov-2 antibodies

An Unusual Association of Coronary Cameral Fistula and Mid-Cavitary Hypertrophic Cardiomyopathy

The presence of both myocardial hypertrophy and coronary-to-cameral fistula has been reported previously. However, the exact mechanisms are not clear. Herein, we reported a patient with mid-cavitary hypertrophic cardiomyopathy and concomitant connections between coronary arteries and left ventricular cavity.

Anti-ganglioside antibody positive neuromyelitis optica spectrum disorders with peripheral neuropathy: a case report

BackgroundNeuromyelitis optica spectrum disorders (NMOSD) is a group of autoimmune-mediated disorders of the central nervous system primarily involving the optic nerve and spinal cord. There are limited reports of NMOSD associated with peripheral nerve damage.Case presentationWe report a 57-year-old female patient who met the diagnostic criteria for aquaporin 4 (AQP4)-IgG positive NMOSD with undifferentiated connective tissue disease and multiple peripheral neuropathy. In addition, the patient was positive for multiple anti-ganglioside antibodies (anti-GD1a IgG antibodies and anti-GD3 IgM antibodies) and anti-sulfatide IgG antibodies in serum and cerebrospinal fluid. After treatment with methylprednisolone, gamma globulin, plasma exchange, and rituximab, the patient’s status improved and was subsequently discharged from our hospital.ConclusionsThe neurologist should be aware of the unusual association between NMOSD and immune-mediated peripheral neuropathy undifferentiated connective tissue disease and nerve damage mediated by multiple antibodies may have combined to cause peripheral nerve damage in this patient.

Pituitary Apoplexy causing Panhypopituitarism

We present an atypical presentation of pituitary apoplexy as a pontine mimic with drowsiness and pin-point pupils. The patient had a known pituitary macroadenoma with suprasellar extension with hypogonadism and hypothyroidism. Initial investigations revealed hyponatraemia and imaging suggested a localised cerebral ischaemia in the basal ganglia and no change in the pituitary adenoma. Only further assessment with MRI showed the extent of the haemorrhage. Management was conservative, although close involvement of neurosurgery and ophthalmology teams is essential. We believe, that awareness of such unusual association is important for clinicians to consider apoplexy in the differential, even if the initial CT imaging is not suspicious.

An unusual association of a familial MEN1 with renin co secretion form a glucagonoma

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

An unusual association between Burkitt's lymphoma and a Carcinoid tumor in a Syrian boy: a rare case report.

The authors report a case of a 15-year-old Syrian adolescent who was admitted to our hospital due to a persistent, severe generalized abdomen pain accompanied by nausea, vomiting, loss of appetite, and inability to pass stool or gas. An abdominal radiograph revealed dilated intestinal loops with air-fluid levels. The patient underwent emergency surgery through which a retroperitoneal mass was removed as well as part of the ileum and the appendix. The final diagnosis was consistent with intestinal BL associated with an appendiceal carcinoid tumor. The correlation between gastrointestinal carcinoids and other types of tumors was frequently reported. However, there have been few reports of carcinoid tumors being associated with lymphoreticular system cancers. BLs were classified into three variants: endemic, sporadic, and acquired immunodeficiency-associated BL while appendiceal neuroendocrine tumors were classified as the following: well-differentiated neuroendocrine tumors with benign or uncertain malignant potential; well-differentiated neuroendocrine carcinoma with low malignant potential; and mixed exocrine-neuroendocrine carcinoma. Our article demonstrates an unusual association between BL and an appendiceal carcinoid tumor that highlights the significant role of histological and immunohistochemical staining in confirming the diagnosis, as well as the role of surgery in treating the complications of intestinal BLs.

Anti-Yo autoimmunity in patients with post-immune checkpoint inhibitors neurological syndromes (P4-5.027)

<h3>Objective:</h3> We report for the first time the occurrence of Yo-antibodies (Abs) in the setting of post-immune checkpoint inhibitors (ICI) neurological syndromes. <h3>Background:</h3> Among Abs carrying a high risk for paraneoplastic neurological syndromes (PNS), anti-Yo-Abs are mostly detected in women with gynecological malignancies who develop a paraneoplastic cerebellar degeneration (PCD). <h3>Design/Methods:</h3> Yo-Abs were initially detected in serum and cerebrospinal fluid (CSF) samples by commercial line dots (RAVO diagnostika and Euroimmun) and further confirmed with in-house techniques: immunohistochemistry on rat brain sections, cell-based assay and Western blot for cerebellar degeneration-related 2 (CDR2) and CDR2-like (CDR2L) proteins. <h3>Results:</h3> Three patients were referred to the French national reference center for PNS: 59-year-old woman and 60-year-old man with lung adenocarcinoma, and 63-year-old woman with ovarian adenocarcinoma, all developing the first neurological symptoms within 3 months of ICI (pembrolizumab) first dose. The woman with ovarian cancer and the man with lung adenocarcinoma had a PCD, while the woman with lung cancer had a myelitis. In all patients, CSF analysis disclosed pleocytosis and brain magnetic resonance imaging was normal. Yo-Abs were retrospectively detected in pre-ICI serum samples in the patient with ovarian cancer. Management consisted of permanent ICI discontinuation (3/3) and immunomodulation, including corticosteroids (3/3), immunoglobulins (2/3), rituximab (1/3), or cyclophosphamide (1/3). No patient substantially improved (modified Rankin Score pre- and post-treatment 4). In all cases, cancer progressed after ICI discontinuation and at last follow-up (4–16 months after neurological onset) the two patients with PCD were dead and the one with myelitis was in palliative care. <h3>Conclusions:</h3> While the pre-ICI Yo-Abs positivity in the patient with ovarian cancer suggests that ICI might have triggered a latent PNS, both the unusual cancer type association (lung) in the other two patients and the atypical clinical phenotype in one of them (myelitis) poses a challenge to the classic understanding of Yo-Abs associated PNS. <b>Disclosure:</b> Dr. Farina has nothing to disclose. Veronique Rogemond has nothing to disclose. Mrs. Peter has nothing to disclose. Dr. Wucher has nothing to disclose. Dr. Villagran Garcia has nothing to disclose. Dr. DO has received research support from Agence Nationale de la Recherche (ANR) ANR-18-RHUS-0012. Géraldine Picard has nothing to disclose. Bastien Joubert, MD has nothing to disclose. The institution of Jerome Honnorat, MD, PhD has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for journal of neurology. Prof. Desestret has nothing to disclose.

Genetic plurality of blaKPC-2-harboring plasmids in high-risk clones of Klebsiella pneumoniae of environmental origin

International high-risk clones of Klebsiella pneumoniae are important human pathogens that are spreading to the environment. In the COVID-19 pandemic scenario, the frequency of carbapenemase-producing strains increased, which can contribute to the contamination of the environment, impacting the surrounding and associated ecosystems. In this regard, KPC-producing strains were recovered from aquatic ecosystems located in commercial, industrial, or agricultural areas and were submitted to whole-genome characterization. K. pneumoniae and Klebsiella quasipneumoniae subsp. quasipneumoniae strains were assigned to high-risk clones (ST11, ST340, ST307) and the new ST6325. Virulome analysis showed genes related to putative hypervirulence. Strains were resistant to almost all antimicrobials tested, being classified as extensively drug-resistant or multidrug-resistant. In this context, a broad resistome (clinically important antimicrobials and hazardous metal) was detected. Single replicon (IncX5, IncN-pST15, IncU) and multireplicon [IncFII(K1)/IncFIB(pQil), IncFIA(HI1)/IncR] plasmids were identified carrying the blaKPC-2 gene with Tn4401 and non-Tn4401 elements. An unusual association of blaKPC-2 and qnrVC1 and the coexistence of blaKPC-2 and mer operon (mercury tolerance) was found. Comparative analysis revealed that blaKPC-2-bearing plasmids were most similar to plasmids from Enterobacterales of Brazil, China, and the United States, evidencing the long persistence of plasmids at the human-animal-environmental interface. Furthermore, the presence of uncommon plasmids, displaying the interspecies, intraspecies, and clonal transmission, was highlighted. These findings alert for the spread of high-risk clones producing blaKPC-2 in the environmental sector and call attention to rapid dispersion in a post-pandemic world.

An unusual association: Chronic coronary syndrome and Bland-White-Garland syndrome.

An unusual association: Chronic coronary syndrome and Bland-White-Garland syndrome.

LEPTOSPIROSIS AND LIVER ABSCESS: AN UNUSUAL ASSOCIATION.

Leptospirosis is a zoonosis caused by spirochetes of the genus Leptospira; the infection is more commonly reported in tropical regions.Leptospirosis classically manifests as a biphasic illness, the first phase characterized by high fever that coincides with leptospiraemia, followed by a brief period when the patient is afebrile. In the second phase, fever returns, accompanied by jaundice and renal failure.The unusual clinical manifestations of leptospirosis include a previous report of a lung abscess, but despite frequent liver involvement, liver abscess in this context has not previously been described.

An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia– case report and review of literature

BackgroundHerniation of ovaries and Mullerian structures into inguinal canal is usually reported in infants and is rare among adults. We are presenting a rare case of Mullerian agenesis and Turner mosaic syndrome with tubo-ovarian inguinal hernia.Case presentationA 17-year-old girl presented with complaints of primary amenorrhea, phenotypical features of Turner syndrome with left inguinal hernia and severe hypertension. Baseline hormonal analysis was normal. Karyotype revealed Turner mosaic with 46XX (85%); 45XO (15%). MRI showed Mullerian agenesis with normally located right ovary in pelvis and left ovary prolapsed through deep inguinal ring into the canal of Nuck. Anti-hypertensives were started and patient optimized for surgery. Laparoscopic hernia repair and repositioning of left ovary into the pelvis was done. Patient had uneventful post-operative course and was discharged in stable condition on anti-hypertensive medication. Future reproductive issues and need of passive vaginal dilatation or vaginoplasty before marriage were explained to the patient and family.ConclusionThis is the first ever reported case with unusual association of atypical MRKH, Turner mosaic syndrome and tubo-ovarian hernia into the inguinal canal. The case emphasizes the need and importance of complete work up of these atypical cases as patients may have more than one cause of primary amenorrhea and complete evaluation is must before any medical or surgical intervention.

Key Residue in the Precursor Region of M Protein Contributes to the Neurovirulence and Neuroinvasiveness of the African Lineage of Zika Virus.

The Zika virus (ZIKV) represents an important global health threat due to its unusual association with congenital Zika syndrome. ZIKV strains are phylogenetically grouped into the African and Asian lineages. However, the viral determinants underlying the phenotypic differences between the lineages remain unknown. Here, multiple sequence alignment revealed a highly conserved residue at position 21 of the premembrane (prM) protein, which is glutamic acid and lysine in the Asian and African lineages, respectively. Using reverse genetics, we generated a recombinant virus carrying an E21K mutation based on the genomic backbone of the Asian lineage strain FSS13025 (termed E21K). The E21K mutation significantly increased viral replication in multiple neural cell lines with a higher ratio of M to prM production. Animal studies showed E21K exhibited increased neurovirulence in suckling mice, leading to more severe defects in mouse brains by causing more neural cell death and destruction of hippocampus integrity. Moreover, the E21K substitution enhanced neuroinvasiveness in interferon alpha/beta (IFN-α/β) receptor knockout mice, as indicated by the increased mortality, and enhanced replication in mouse brains. The global transcriptional analysis showed E21K infection profoundly altered neuron development networks and induced stronger antiviral immune response than wild type (WT) in both neural cells and mouse brains. More importantly, the reverse K21E mutation based on the genomic backbone of the African strain MR766 caused less mouse neurovirulence. Overall, our findings support the 21st residue of prM functions as a determinant for neurovirulence and neuroinvasiveness of the African lineage of ZIKV. IMPORTANCE The suspected link of Zika virus (ZIKV) to birth defects led the World Health Organization to declare ZIKV a Public Health Emergency of International Concern. ZIKV has been identified to have two dominant phylogenetic lineages, African and Asian. Significant differences exist between the two lineages in terms of neurovirulence and neuroinvasiveness in mice. However, the viral determinants underlying the phenotypic differences are still unknown. Here, combining reverse genetics, animal studies, and global transcriptional analysis, we provide evidence that a single E21K mutation of prM confers to the Asian lineage strain FSS130125 significantly enhanced replication in neural cell lines and more neurovirulent and neuroinvasiveness phenotypes in mice. Our findings support that the highly conserved residue at position 21 of prM functions as a determinant of neurovirulence and neuroinvasiveness of the African lineage of ZIKV in mice.

Festuca pratensis-like Subgenome Reassembly from a "Chromosomal Cocktail" in the Intergeneric Festulolium (Poaceae) Hybrid: A Rare Chromoanagenesis Event in Grasses.

Festuca and Lolium grass species are used for Festulolium hybrid variety production where they display trait complementarities. However, at the genome level, they show antagonisms and a broad scale of rearrangements. A rare case of an unstable hybrid, a donor plant manifesting pronounced variability of its clonal parts, was discovered in the F2 group of 682 plants of Lolium multiflorum × Festuca arundinacea (2n = 6x = 42). Five phenotypically distinct clonal plants were determined to be diploids, having only 14 chromosomes out of the 42 in the donor. GISH defined the diploids as having the basic genome from F. pratensis (2n = 2x = 14), one of the progenitors of F. arundinacea (2n = 6x = 42), with minor components from L. multiflorum and another subgenome, F. glaucescens. The 45S rDNA position on two chromosomes also corresponded to the variant of F. pratensis in the F. arundinacea parent. In the highly unbalanced donor genome, F. pratensis was the least represented, but the most involved in numerous recombinant chromosomes. Specifically, FISH highlighted 45S rDNA-containing clusters involved in the formation of unusual chromosomal associations in the donor plant, suggesting their active role in karyotype realignment. The results of this study show that F. pratensis chromosomes have a particular fundamental drive for restructuring, which prompts the disassembly/reassembly processes. The finding of F. pratensis "escaping" and rebuilding itself from the chaotic "chromosomal cocktail" of the donor plant points to a rare chromoanagenesis event and extends the view of plant genome plasticity.

An unusual association of folic acid deficiency with gastric neuroendocrine tumor type I

The association of gastric neuroendocrine tumour type I with macrocytic anaemia due to vitamin B12 deficiency is commonly encountered. The etiological cause of macrocytic anaemia must always be precisely established for the subsequent treatment guidance. We present the case of a 63-year-old patient admitted for marked physical asthenia, palpitations, abdominal pain, flatulence, paresthesia in the upper and lower limbs and concentration difficulties. Clinical examination revealed pale, dry skin, Hunter's glossitis, and tachycardic heart sounds. Bloodwork showed pancytopenia with macrocytic normochromic anaemia, vitamin B12 within normal limits, but with low folic acid levels. The reticulocyte crisis was documented on day three after initiating folic acid treatment. Exploration by upper digestive endoscopy and colonoscopy described multiple polypoid tumours in the greater curvature of the stomach. The histopathological and immunohistochemical examination lead to the diagnosis of gastric neuroendocrine tumours (NET) type G1. To our knowledge, there are no reports about an association of this type of tumour with folate deficiency-induced anaemia.

Light without TORCH: Periventricular Haemorrhage and Group B Streptococcal Meningitis in a Neonate

Post-infectious hydrocephalus is a common entity needing attention of paediatricians and neurosurgeons. Periventricular Haemorrhage (PVH) affects both preterm and term babies. Risk factors include male gender, short gestation, labour and vaginal delivery. Congenital infections such as Toxoplasma and CMV are associated with hydrocephalus and intracranial calcification. We present an unusual association of Group B Streptococcal infection with periventricular haemorrhage. A Caucasian female was born at 37 weeks gestation by normal vaginal delivery. Birth weight was 2.72kg and OFC was 33cm (50th centile). There were no antenatal problems or maternal infections. On day 2 of life, the patient presented with unusual cry, lethargy and reduced feeding. Group B Streptococcal meningitic septicaemia was confirmed with positive CSF and blood cultures. At 7 weeks, she presented with a two-week history of increasing head circumference. Ventriculo Peritoneal (VP) shunt was inserted for post-infectious hydrocephalus. There was difficulty in waking the patient up post-operatively and subsequent CT Brain showed the presence of multiple high attenuation foci in the periventricular region suggestive of haemorrhage or calcification. MR imaging confirmed numerous foci of abnormal signal intensity in the periventricular white matter, most likely blood products. To our knowledge, this is the first report of an association between Group B Streptococcal meningitis and PVH.

Systemic lupus erythematosus in human immunodeficiency virus: An unusual association.

Systemic lupus erythematosus in human immunodeficiency virus: An unusual association.

Triple Disruption of the Superior Shoulder Suspensory Complex - Review and Surgical Technique.

The shoulder girdle is composed of two arches, and these two arches are held together by the superior shoulder suspensory complex (SSSC), a ligamentous complex. Goss's 1993 description of the SSSC as a ring includes the glenoid, coracoid process, coracoclavicular ligaments, distal clavicle, acromioclavicular joint, and acromion. Goss also noted in a 1996 study that a rupture of the SSSC in two places can result in an unstable lesion. This case report presents an unusual association of fractures involving the coracoid process, acromion, and distal clavicle, which has rarely been reported in the literature. Indeed, a triple lesion of the SSSC is very uncommon and the treatment is still debated. Therefore, we propose a surgical technique which we believe to have provide good results. A 54-year-old Caucasian male patient presented with Neer I distal third fracture of the clavicle, a displaced fracture of the acromion, and a fracture of the coracoid process following a left shoulder trauma after an epileptic crisis. The patient underwent surgery and has been followed for 1 year with good clinical and functional outcomes. This case report highlights the complexity of lesions of the SSSC and the importance of determining proper surgical technique based on the type of lesion. It demonstrates that surgery combined with active rehabilitation can lead to good functional outcomes for patients with this type of injury. This report will be of interest to clinicians involved in the treatment of this type of lesion and should add a valuable treatment option for the treatment of triple disruption of the SSSC.