Caucasian Patient Research Articles

Tetraparesis following thoracic spine surgery in a patient with Klippel–Feil syndrome and ABCB4 mutation: a case report

BackgroundKlippel–Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel–Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected. The ATP-binding cassette subfamily B member 4 is only expressed in the liver and is involved in biliary phospholipid secretion. The clinical spectrum includes various hepatobiliary pathologies, including low phospholipid-associated cholelithiasis, and has never been associated with musculoskeletal anomalies.Case presentationA 55-year-old male Caucasian patient presenting with low phospholipid-associated cholelithiasis syndrome with ATP-binding cassette subfamily B member 4 mutation and liver cirrhosis was referred to our clinic for a liver transplant. A period of 6 months before, the patient underwent a T7–T9 posterior fixation for a T8 osteoporotic fracture. Postoperatively, he was tetraparetic, whereas he was neurologically intact before the operation. At admission to our hospital, he was still tetraparetic and presented with clinical signs of cervical myelopathy. Moreover, he suffered a limitation of cervical range of motion in all directions, short neck, and low posterior hairline. Imaging showed multiple cervical and thoracic vertebral bodies fusion, as well as cervical spine stenosis. Based on the available data, we diagnosed a type 3 Klippel–Feil syndrome according to Samartzis’ classification.ConclusionsThe heterogeneity of KFS and the various potential hereditary links that are known indicate that it is important to highlight all potential cases related to known genetic defects. At present, no association between ATP-binding cassette subfamily B member 4 mutation and congenital cervical fusions has been reported. The other important clinical focus of this case is the appearance of spontaneous tetraparesis after thoracic spine surgery. This mechanism remains unclear, but considering different spinal anatomy it might have been due to difficult intubation and patient’s positioning during his previous operation.

Acute cardiac tamponade during atrial flutter ablation: improved hemodynamics after positive pressure ventilation: a case report

IntroductionAcute cardiac tamponade is a rare event during any type of interventional or surgical procedure. It can occur during electrophysiology procedures due to radiofrequency ablation, lead or catheter manipulation, transseptal puncture, laser lead extractions, or left atrial appendage occlusion device positioning. Cardiac tamponade is difficult to study in a prospective manner, and case reports and case series are important contributions to understanding the best options for patient care.Case summaryAn 87-year-old Caucasian male patient breathing spontaneously developed acute tamponade during an atrial flutter ablation. Pericardial drain insertion was difficult, and hypotension failed to respond to epinephrine boluses. The patient became hypoxemic and hypercarbic, requiring intubation. Unexpectedly, the blood pressure markedly increased postintubation and remained in a normal range until the pericardium was drained.ConclusionSpontaneous ventilation is considered important to maintain venous return to the right heart during cardiac tamponade. However, spontaneous ventilation reduces venous return to the left heart and worsens the paradoxical pulse in tamponade. Intravenous vasopressors are thought to be ineffective during cardiac tamponade. Our patient maintained pulmonary blood flow as indicated by end-tidal carbon dioxide measurements but had no measurable systemic blood pressure during spontaneous ventilation. Our case demonstrates that tracheal intubation and positive pressure ventilation can transiently improve left heart venous return, systemic perfusion, and drug delivery to the systemic circulation.

Durable response from fibroblast growth factor receptor inhibition in intrahepatic cholangiocarcinoma terminated by metachronous acute myeloid leukemia: a case report

IntroductionAdvances in the treatment of biliary tract cancer have been made possible through gains in genomic and epigenetic tumor understanding. The use of fibroblast growth factor receptor inhibitor has enabled significant clinical improvement in a specific group of patients with intrahepatic cholangiocarcinoma, some of whom with very durable responses.Case presentationWe present the case of a 69-year-old Caucasian patient with advanced intrahepatic cholangiocarcinoma who received the therapy with selective oral inhibitor of fibroblast growth factor receptor 1, 2, and 3 pemigatinib after multiple previous chemotherapies. This resulted in a durable stable disease condition for 15 months with good tolerability. The diagnosis of acute myeloid leukemia was an unanticipated serious adverse event, in which the impact of fibroblast growth factor receptor inhibition could not yet be determined due to inadequate data.ConclusionsIt is still possible to achieve durable tumor response in advanced previously treated intrahepatic cholangiocarcinoma through targeted therapies. The prolonged progression free survival means that there could be an increased risk of secondary malignancy in this patient group, which necessitates diagnostic and therapeutic strategies.

Splenogonadal fusion: a case report

BackgroundAccessory splenic tissue is a commonly encountered phenomenon in medical literature. Typically, these accessory spleens are found in close proximity to the main spleen, either in the hilum or within the surrounding ligaments. Nevertheless, it is noteworthy that they can also be located in unusual sites such as the jejunum wall, mesentery, pelvis, and, exceptionally rarely, the scrotum. The first documented case of accessory splenic tissue in the scrotum was reported by Sneath in 1913 and is associated with a rare congenital anomaly called splenogonadal fusion. This report describes an infant who presented with a scrotal mass noted by his mother and after examination, investigations, and surgical exploration, it was revealed to be splenogonadal fusion.Case descriptionAn 8-month-old Caucasian male patient presented with a mass in the left testicle and bluish discoloration of the scrotum, which had been incidentally noticed in the previous 2 months. The general physical examination was unremarkable. Other than a palpable scrotal mass that was related to the upper pole of the testis, the rest of examination was unremarkable. Imaging revealed that this mass originated from the tail of the epididymis without infiltrating the testis and tumor markers were normal. On inguinal exploration, a reddish brown 2 × 2 cm mass was found attached to the upper pole and was completely excised without causing any harm to the testis, vessels, or epididymis. Histopathological evaluation confirmed the presence of intratesticular ectopic splenic tissue.ConclusionAlthough uncommon, splenogonadal fusion can be included in the differential diagnosis of a testicular swelling. Accurate diagnosis allows for appropriate treatment planning which helps to avoid unnecessary radical orchiectomy, which can have a significant impact on the patient’s reproductive and psychological wellbeing.

Extramedullary hematopoiesis in ribs and severe pulmonary hypertension disease following intermediate beta-thalassemia: a case report

BackgroundThalassemia is a type of congenital hemoglobinopathy that falls into the category of hemolytic anemias. Extramedullary hematopoiesis is a complication of this disease, which is a mechanism to compensate for chronic anemia in these patients, and imaging is the best diagnostic method.Case reportIn this report, a 36-year-old Caucasian female patient with intermediate beta thalassemia is presented who, at the time of referral, complained of exacerbated shortness of breath. Imaging showed diffuse expansion masses with soft tissue components in the ribs of both hemithoraxes, leading to the diagnosis of extramedullary hematopoiesis.ConclusionExtramedullary hematopoiesis in the ribs is an uncommon finding in patients with thalassemia and is a sign of the severity of the disease and a poor prognostic factor that might be preventable if blood transfusion begins at younger ages.

Endovascular Treatment with a Branched Arch Endograft of an Aneurysmal Dissection of Innominate Artery in a Marfan Patient

Here we will discuss a 38-year-old Caucasian patient, presenting with Marfan disease, integrated in a family history, who benefited from endovascular surgical management of her innominate artery (IA) dissection with aneurysmal progression.

New challenges in management of phenylketonuria in pregnancy: a case report

BackgroundPhenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease. As a result, an increasing number of women diagnosed with phenylketonuria have reached the reproductive phase of life in good health, and management of pregnancy in women with PKU is becoming more frequent.Case presentationIn this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital’s Metabolic Diseases Unit. We describe the patient’s gestation, impacted by her and her partner’s diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation.ConclusionsThe description of PKU management—diagnosis, follow-up, and treatment—for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility.

Atypical compound melanocytic naevus of the urethral meatus case report

BackgroundAtypical melanocytic naevus (AMN) of the urethral meatus is very rare with only a handful of reported cases. It is important to note that the rarity of AMN in the penis may contribute to a delay in diagnosis and treatment, as well as a lack of awareness among healthcare providers. This is the first case report to describe workup and management of AMN of the urethral meatus of a male, making it a valuable contribution to the literature.Case presentationA Caucasian male patient in his fourth decade presented with a several month history of a pigmented lesion on his glans penis. The differential diagnosis was of malignant melanoma but after biopsy and specialist pathological review, atypical melanocytic naevus was diagnosed. A punch biopsy, followed by two wide local excisions, was undertaken for complete excision and evaluation of the lesion.ConclusionSince AMN cannot be clinically distinguished from malignant melanoma, timely histological evaluation of the lesion is essential for workup. In this case, site and visibility of the lesion, expedient biopsy, and tissue analysis resulted in identification and excision of the naevus early enough for penis preserving surgery to be performed.

An effective treatment in Erdheim Chester disease: vemurafenib: a case report

BackgroundErdheim Chester disease (ECD) is a rare disease with multisystemic involvement in the group of non-langerhans cell histiocytosis. Although nearly 100 years have passed since its definition, the number of cases reported all over the world is below 1000. In addition to the rarity of the disease, low awareness seems to play a role in this.Case presentation47-year-old white caucasian women patient who presented to our clinic with symptoms of weakness-fatigue as well as increasing pain in the knees and ptosis in the left eye. Result of the patient's bone biopsy, ECD was considered pathologically and BRAF V600E mutation was shown molecularly. After presenting the clinical, laboratory and other examination results of the case, the dramatic response seen with targeted therapy will be discussed.ConclusionsBRAF V600E mutation is frequently seen in ECD. Vemurafenib plays an active role in targeted therapy.

THU451 Low Bone Mineral Density In A Patient With Thalassemia Minor

Abstract Disclosure: F. Woron: None. P. Madhavan: None. Osteoporosis is a known complication of thalassemia major and thalassemia intermedia, but is not typically considered in patients with thalassemia minor. Here, we present a 74-year-old Caucasian male patient with thalassemia minor who presented to us for follow-up of osteoporosis. The patient reports a history of osteoporosis that was diagnosed prior to 2004. Additionally, he has a history of radiation exposure to his head and neck, goiter, prostate cancer status post resection in 2019, and atrial fibrillation, for which he has been on apixaban since 2021. He was treated with risedronate for his osteoporosis from approximately 2004 to about 2011 by other providers, with improvement in bone density to osteopenia. Free testosterone, parathyroid hormone, calcium, and serum protein electrophoresis levels evaluated prior to his diagnosis of osteoporosis were all noted to be normal. He has not had a fracture as an adult. He is being monitored with conservative management and currently aims for a daily calcium intake of 1000-1200 mg, including diet and supplements, and a daily Vitamin D intake of 2000 IU. He engages in frequent weight-bearing exercise. As of September 2021, his bone mineral density was osteopenic in the lumbar spine (T score of −2) and left hip (total T score of the left hip −1.6, and −1.8 in the femoral neck). The patient had no other known risk factors for decreased bone mineral density preceding the onset of his osteoporosis, and a previous workup for secondary causes of his osteoporosis etiology proved negative. Adding to one existing case report in the literature, we propose that thalassemia minor may potentially be a risk factor for osteopenia and osteoporosis, and that we should consider screening thalassemia minor patients with DXA for evaluation of bone health. Presentation: Thursday, June 15, 2023

THU009 Subclinical Cushing’s Syndrome In An ACTH-secreting Pituitary Macroadenoma

Abstract Disclosure: N.G. Akabogu: None. D. Kumar: None. N. Sheung: None. A. Akofu: None. A. Uddin: None. S. Dejhansathit: None. F. Marium: None. L.G. Kurukulasuriya: None. Background: Subclinical Cushing’s syndrome (SCS) is characterized by subtle cortisol hypersecretion, which does not result in the typical signs and symptoms of Cushing’s syndrome (CS). While many of the signs and symptoms of CS are common in the general population, there are some that are discriminatory and specific for CS: supraclavicular fat pads, proximal muscle weakness, facial plethora, and violaceous striae. SCS manifests mostly as obesity, type 2 diabetes, and hypertension. Diagnosing SCS is challenging; however, the best screening test to uncover the subtle hypercortisolism is the dexamethasone suppression test (DST). Case presentation: We report a case of SCS in a 62 years old Caucasian postmenopausal patient with a medical history of total thyroidectomy for Graves’ disease, post-surgical hypothyroidism, 7.4cm right pheochromocytoma status post partial right adrenalectomy, incidentally discovered pituitary macroadenoma (during imaging to look for subarachnoid hemorrhage), untreated type 2 diabetes mellitus (A1c 6.6% and stable for 1 year before treatment), hypertension, atrial fibrillation, cerebrovascular accident, and worsening migraines. Patient’s physical exam was mostly unremarkable; she had central obesity and bilateral lower extremity swelling. Pituitary work-up showed evidence of secondary hypogonadism and secondary hypothyroidism with elevated adrenocorticotropic hormone (ACTH) of 130 (AM range: 7.2-63) and cortisol of 12.6, at 11:52AM. Further work-up for hypercortisolism revealed non-suppressed 8AM cortisol (5.83mcg/dL) on the low dose DST and 49% suppression of 8AM cortisol and ACTH on the high dose DST. 24hour urinary cortisol was normal. Patient did not perform the midnight salivary cortisol. Patient subsequently underwent trans-sphenoidal resection of the pituitary macroadenoma. Pathology analysis of the pituitary mass showed weak to moderate immunoreactivity for ACTH. Conclusion: Our patient had abnormal DST but normal 24hour urine cortisol. We may have missed her SCS if we screened her only with a 24hour urine cortisol. This confirms the fact that dexamethasone suppression test should be the first test in the evaluation of subclinical Cushing’s syndrome. Presentation: Thursday, June 15, 2023

SAT154 Insulin Autoimmune Syndrome In The Setting Of Metastatic Colon Cancer: Case Report

Abstract Disclosure: M. Bernal: None. J. Suarez: None. K.M. Tuna: None. F. Amer: None. M. Lamas: None. Insulin Autoinmune Syndrome is a rare cause of hypoglycemia. Its incidence is higher among Asians, Japanese patients. Also known as Hirata’s disease, it is characterized by the presence of a hyperinsulinemic state, hypoglycemia, elevated insulin antibodies titers without prior exposure to exogenous insulin, and no pathological abnormalities of the pancreatic islets cells. Some commonly used drugs and viruses have been identified as triggers. We present the case of 65-year-old male Caucasian patient who presented with recurrent episodes of hypoglycemia, that started after surgical resection of a metastatic liver lesion, in the context of metastatic colon cancer. During the workup, it was confirmed that patient had hyperinsulinemia, hypoglycemia, and positive auto-insulin antibodies without previous exposure to exogenous insulin and no imaging findings suggestive of a pancreatic abnormality. The relevance of this case is not only related to the rarity of this entity in the Western World, but also the possibility of being associated with a paraneoplastic syndrome in the setting of metastatic colon cancer, which to the best our knowledge, has not yet been described in the literature as a possible trigger of Insulin Autoimmune Syndrome. Presentation: Saturday, June 17, 2023

Synchronic development of hydrocele and groin hernia during pregnancy: a case report

IntroductionHydroceles of the canal of Nuck are rare, and have not been described in relation to pregnancy.Case presentationA 34-year-old Caucasian female patient had bilateral groin swelling debuted during her pregnancy. A preoperative magnetic resonance imaging scan found bilateral hydroceles of the canal of Nuck. Operative findings and histological examinations revealed a left-sided inguinal hernia and a right-sided hydrocele. The patient was discharged well and without signs of postoperative complications or hernia recurrence.DiscussionIn this case, a hydrocele and a hernia sac were morphologically identical in terms of preoperative appearance and development. Given the morphological correlation, it was surprising to find different operative findings confirmed by the histopathological examination.ConclusionThis is the first ever report of the synchronic development of two morphologically identical cystic processes, with one being a hydrocele and the other a hernia sac. In addition, the hydrocele developed during pregnancy, making this case even more unique.

Solitary acrometastasis of the phalanx as initial presentation of an oligometastatic Kirsten rat sarcoma viral oncogene homolog-mutated lung adenocarcinoma: a case report

BackgroundAcrometastasis is an uncommon finding in non-small cell lung cancer and is usually a sign of multimetastatic disease. Few case reports have suggested solitary digital metastasis as the single secondary lesion of oligometastatic non-small cell lung cancer.Case presentationThis case report describes an unusual presentation of a Kirsten rat sarcoma viral oncogene homolog-mutated lung adenocarcinoma with a solitary bone metastasis in the fourth finger medial phalanx, which was also the first sign of the disease, in a 63-year-old Caucasian female patient. Digital surgical amputation was performed. After histopathological confirmation and radiological exclusion of other secondary lesions, chemoimmunotherapy in a first-line setting was initiated. A partial metabolic response in the primary lung lesion was observed after four cycles. Maintenance therapy is currently being continued.ConclusionSolitary digital metastasis is a rare finding in non-small cell lung cancer. Further studies are needed to investigate the mechanisms behind this particular dissemination process.

A Systematic Review and Meta-Analysis of Cognitive Effects of rTMS in Caucasian Patients with Mild Cognitive Impairment.

In recent years, repetitive transcranial magnetic stimulation (rTMS) has received much attention as a non-invasive, effective treatment modality for mild cognitive impairment (MCI). Although several meta-analyses have reported that rTMS can improve cognitive abilities, improvements in individual memory domains (speech, language, concentration, and memory) are poorly understood. In addition, stimulation parameters may be flawed in studies of global populations because of ethnic differences between Caucasians and Asians. This meta-analysis aimed to systematically characterize the efficacy of different combinations of rTMS parameters on different cognitive domains in Caucasian patients with MCI. We conducted a systematic literature search in Medline PubMed, Pubpsych, and Embase on the use of rTMS in MCI patients through November 2022. Randomized, double-blind, and sham-controlled trials (RCTs) from the Caucasian patient population were included. The studies reported outcome measures for different domains of cognition, such as language, concentration, or memory. Possible effects of covariates were examined using meta-regressions. The search yielded five publications. The analyses found that rTMS improved cognitive functions, memory, concentration, and language in patients with MCI and treatment with rTMS compared with the sham stimulation group. The statistical analysis results of the studies showed that rTMS could improve various cognitive functions, such as memory and concentration, in Caucasian MCI patients. A particular effect was found at a frequency of 10 Hz and stimulation of the LDLPFC. However, further studies are needed to validate these findings and explore more effective stimulation protocols and targets.

Sinopharm (HB02)-associated vaccine-induced immune thrombotic thrombocytopenia: a case report

BackgroundVaccine-induced thrombotic thrombocytopenia is associated with the coronavirus disease 2019 vaccines. It has been reported by vector-based vaccines. To the best of our knowledge, there is no report about vaccine-induced thrombotic thrombocytopenia in whole-virus vaccines. We are presenting the first case of vaccine-induced thrombotic thrombocytopenia with this type of vaccine.Case presentationAn 18-year-old male Caucasian patient with complaints of severe abdominal, low back, and lower extremity pain presented to the medical center. He received the first dose of the Sinopharm (HB02) vaccine against coronavirus disease 2019 10 days before hospital attendance. In the laboratory examination, decreased platelet count and increased D-dimer were observed. During hospital admission, the diagnosis of pulmonary embolism was reached. He received vaccine-induced thrombotic thrombocytopenia therapy consisting of intravenous immune globulin and direct oral anticoagulant. Platelet count increased and he was discharged after 1 month.ConclusionThis case highlights the possibility of vaccine-induced thrombotic thrombocytopenia occurrence by whole-virus coronavirus disease 2019 vaccines. Compared with vector-based vaccines, this phenomenon is rare for whole-virus vaccines. More studies on this type of vaccine regarding thrombotic thrombocytopenia should be considered.

Newly diagnosed Crohn’s disease, and hepatocellular and renal cell carcinoma in a bariatric surgery patient—dealing with the complexity of obesity-associated diseases: a case report and review of the literature

BackgroundBariatric surgery candidates commonly suffer from conditions that constitute the metabolic syndrome. But they also have a higher risk for autoimmune and malignant diseases. Obesity-associated comorbidities aside from the metabolic syndrome are often given insufficient attention in the clinical routine, including preoperative work-ups for bariatric surgery.Case presentationWe retrospectively report the case of a 65 years old Caucasian patient who was diagnosed with Crohn’s disease prior to, a hepatocellular carcinoma during, and a renal cell carcinoma post bariatric surgery. The relevance of these diseases for decision making in bariatric procedures and current recommendations for preoperative bariatric work-ups are discussed. In our case, the diagnosis of Crohn’s disease led to the performance of a sleeve gastrectomy instead of a Roux-en-Y gastric bypass and a previously unknown hepatocellular carcinoma was simultaneously removed by hepatic wedge resection.ConclusionsPreoperative endoscopy and imaging techniques can be valuable since surprising pre- and intraoperative findings can force the bariatric surgeon to change the initially planned operative strategy. But the diagnostic accuracy of abdominal ultrasound may be limited in bariatric surgery patients. With the expansion of bariatric surgery, the complexity of bariatric surgery patients is also likely to increase. However, with the appropriate awareness and strategies, bariatric surgery can be safely executed and even contribute to the treatment of severe comorbidities that exceed the metabolic spectrum.

The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature.

Hematological abnormalities are the most common early symptoms of Gaucher disease (GD), with an increased risk of hematopoietic system malignancies reported in patients with GD. GD may be associated with monoclonal and polyclonal gammopathies; however, the mechanism of association of GD with multiple myeloma (MM) remains uncertain. Enzyme replacement therapy (ERT) has been shown to improve patients' cytopenia and it seems to facilitate anti-myeloma therapy in patients with co-occurring GD and MM. Although it is necessary to demonstrate the deficiency of enzymatic activity, as well as using genetic tests to finally diagnose GD, due to changes in the blood count image, bone marrow biopsy is still a frequent element of the GD diagnosis procedure. The diagnosis of GD is often delayed, mainly due to the heterogeneity of the histopathological picture of bone marrow biopsy or overlapping hematological abnormalities. Unrecognized and untreated GD worsens the response of a patient with an oncological disease to targeted treatment. We present a literature review, inspired by the case of a Caucasian patient initially diagnosed with MM and later confirmed with comorbid GD type 1 (GD1). We would like to point out the problem of underdiagnosis and delay in patients with GD.

LB1721 A novel pathogenic TPCN2 mutation detected for the first time in a Caucasian patient confirms the dominant inheritance of albinism

LB1721 A novel pathogenic TPCN2 mutation detected for the first time in a Caucasian patient confirms the dominant inheritance of albinism

A Ten-Year Follow-Up Case Report on the Treatment of Severe Obstructive Sleep Apnea Using a Mandibular Advancement Device

This report describes the challenging case of a 45-year-old male Caucasian patient with morbid obesity and severe obstructive sleep apnea who was followed up for over 10 years by a multidisciplinary team that included sleep and dental medicine professionals, physiotherapists, and nutritionists. The patient underwent seven polysomnographic studies during the follow-up period; furthermore, nocturnal digital monitoring (NDM) was performed during the COVID-19 pandemic. The polysomnographic study revealed that the apnea-hypopnea index of the patient reduced from 131.7 ev/h to 9.4 ev/h without symptoms, while his NDM oxygen desaturation index varied because of weight gain during the COVID-19 pandemic. This case report highlights the importance of a multidisciplinary team in ensuring the success of mandibular advancement device therapy with excellent clinical outcomes. Furthermore, this report suggests that NDM was a good tool for follow-up during the COVID-19 pandemic.