Rare Clinical Manifestation Research Articles

Alveolar Echinococcosis - Diagnostic challenges of a parasitic disease on the rise in Europe - a case report.

A 45-year-old male presented with jaundice, abdominal discomfort, and weight loss. Abdominal ultrasound revealed intrahepatic cholestasis and cholelithiasis indicative of Caroli-syndrome. Subsequent magnetic resonance imaging demonstrated a corresponding 5 × 4 cm polycyclic, calcified mass and a distant 12 mm subhilar stenosis of the common bile duct resembling cholangiocarcinoma. Calcifications seemed unusual and brought up differential diagnosis of echinococcosis. Serology revealed an echinococcus antibody-titer of 33 U (cut-off > 11.5 U). However, the clinical presentation with jaundice, weight loss, and a distant subhilar stenosis of the common bile duct without association to the intrahepatic process led to underestimation of the positive antibody-titer. Thus, the patient underwent right hemihepatectomy for potential cholangiocarcinoma. Dense infiltrative small cysts interspersed the resected right lobe of the liver. Histopathology revealed a granulomatous inflammation surrounding typical cuticulas, confirming hepatobiliary alveolar echinococcosis. Alveolar echinococcosis is considered as one of the neglected diseases by the World Health Organization, although incidence is rising worldwide and specifically in Germany. Our case illustrates hurdles in diagnosing alveolar echinococcosis and underlines the importance to be aware of classical and rare clinical manifestations.

A rare clinical manifestation of plexiform neurofibroma in the absence of neurofibromatosis-1: a case report

Plexiform neurofibroma is a benign tumor of peripheral nerves that occurs in up to 30% of patients with neurofibromatosis type-1 (NF-1). We present a case of a 15-year-old male patient without NF-1, with an 11-year history of a slow growing, painless mass on the left side of the back extending to the gluteal region, with no constitutional symptoms but with some scoliosis. Histology of the mass was compatible with a plexiform neurofibroma. Plexiform neurofibromas commonly occur in, but are not limited to the craniofacial region. The mainstay of treatment is surgical resection, but complete resectability is challenging due to their locally infiltrative growth pattern. This highlights the need for patient-specific management strategies, even when established guidelines are in place.

Progress in the diagnosis and treatment of pancreatic cancer with acute pancreatitis as the initial symptom

Pancreatic cancer patients often have complaints such as upper abdominal pain and obstructive jaundice when seeking diagnosis and treatment. However, acute pancreatitis as a rare initial clinical manifestation of pancreatic cancer is often overlooked in clinical practice. This oversight often leads to a delayed diagnosis of pancreatic cancer, uncertainty in treatment strategies, and significantly affects patients' quality of life and prognosis. Therefore, early diagnosis and treatment, and active follow-up are crucial for patients with acute pancreatitis as an initial symptom of pancreatic cancer. Upon admission to such patients, common causes such as gallstones, alcohol abuse, and hyperlipidemia should be initially ruled out. Evaluation with tumor markers, CT and MRI, and endoscopic ultrasound are essential to confirm the diagnosis of pancreatic cancer. For patients with mild pancreatitis, managing peripancreatic inflammation first before radical resection of pancreatic cancer could reduce postoperative complications. Moreover, pancreatitis serves as a high-risk factor for pancreatic cancer, so it is crucial to closely follow up patients with pancreatitis to detect pancreatic cancer early.

Primary aldosteronism with hypokalemic rhabdomyolysis: a case report and review of the literature

BackgroundHypokalemic rhabdomyolysis is a rare clinical manifestation of primary aldosteronism, making its diagnosis challenging, particularly when it becomes the primary presenting symptom. Herein, we present a case of primary aldosteronism with hypokalemic rhabdomyolysis and conduct a related literature review.Case presentationWe report the case of a 54-year-old Chinese male patient who presented with intermittent weakness over the past year and was admitted with sudden limb paralysis for 2 days. The final diagnosis was primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. By reviewing the related Chinese and English literature, we noticed that only a few cases were published since 1978. After excluding irrelevant literatures, we summarized and analyzed 43 patients of with primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. All patients showed good recovery, with normalized blood potassium levels, and a majority achieved normalized blood pressure. Some patients still required medication for blood pressure control.ConclusionsPrimary aldosteronism rarely causes rhabdomyolysis; the occurrence of severe hypokalemia and rhabdomyolysis should prompt consideration of primary aldosteronism in the differential diagnosis. Early detection and treatment are crucial for determining patient prognosis.

Vestibular Rehabilitation of Patient with Hypertrophic Olivary Degeneration: A Case Report.

Background Hypertrophic olivary degeneration (HOD) is a rare disorder that typically develops in the weeks to months following a structural brainstem or cerebellar lesion in the Guillain-Mollaret triangle (GMT). Clinically, patients with HOD present with palatal myoclonus and nystagmus, which are difficult to treat and rarely resolve. Purpose The purpose of this case is to present the results of vestibular and balance assessments of a patient with bilateral HOD before and after vestibular rehabilitation. Methods This case report describes a 43-year-old trucker who presented with dizziness, blurred vision, and balance problems for more than 10 months, accompanied by new-onset tremors and ataxia for more than 6 months. The patient's characteristic clinical manifestations were palatal myoclonus and nystagmus. Magnetic resonance imaging (MRI) revealed bilateral HOD after an acute pontine hemorrhage. Comprehensive vestibular and balance assessments were performed. Results Vestibular and balance assessments demonstrated nystagmus, impaired vestibulo-ocular reflex (VOR), optokinetic reflex (OKR), and balance function. Following 4 months of vestibular rehabilitation, the patient's eye symptoms and balance function were improved. Conclusions The case presented here highlights the rare clinical manifestations of HOD after pontine hemorrhage. Vestibular rehabilitation training may be beneficial for the recovery of patients with HOD.

Challenging Neurological Presentation: Scrub Typhus with Meningoencephalitis and Multiple Cranial Nerve Involvement.

A 40-year-old male farmer from rural West Bengal, India, presented with fever, headaches, seizure, eschar, and palsy of left cranial nerves VII, VIII, IX, and X as a rare clinical manifestation of scrub typhus. Positive IgM enzyme-linked immunosorbent assay tests in serum and cerebrospinal fluid confirmed the diagnosis, with brain magnetic resonance imaging showing meningoencephalitis findings. Treatment with steroids and doxycycline led to neurological improvement. This case highlights the need for heightened clinician awareness towards early detection of scrub typhus's atypical presentations to ensure timely and effective treatment.

Wunderlich syndrome as a rare complication of polyarteritis nodosa: a case report.

Spontaneous subcapsular and perirenal hemorrhage, known as Wunderlich syndrome (WS), is a rare clinical manifestation of polyarteritis nodosa (PAN). We report a case of a 48-year-old male with a history of recurrent episodes of leg muscle tenderness and dysesthesia, bilateral flank pain, painful nodular skin lesions in the lower limbs, weight loss, and difficult-to-control arterial hypertension. The abdominopelvic computed tomography angiography showed a large left perirenal hematoma, leading to the patient's admission to the intensive care unit. After the exclusion of infectious or neoplastic foci, the patient was diagnosed with PAN and started intravenous methylprednisolone pulses with a good response. Since WS is a rare initial clinical manifestation of PAN, an early diagnosis and aggressive treatment will significantly improve clinical outcomes.

Restoring vision after cat bite: a case report on successful diagnostic and therapeutic regimen for Capnocytophaga endophthalmitis

BackgroundCapnocytophaga is a bacterium frequently found in the oral flora of dogs and cats (e.g. Capnocytophaga canimorsus) and humans (e.g. Capnocytophaga gingivalis). Among Capnocytophaga related ocular infections, fulminant endophthalmitis is a rare but sight-threatening clinical manifestation.Case presentationA 35-year-old previously healthy patient presented after a cat bite into the left upper and lower eyelid and nasal part of the conjunctiva of the left eye. At initial consultation, the corrected visual acuity was 0.8 in decimal scale and a detailed clinical examination revealed no evidence of ocular penetration. However, daily follow-up examinations under local therapy revealed a progressive intraocular inflammation, therefore the decision was made to perform a diagnostic vitrectomy with intravitreal and systemic antibiotic treatment. Capnocytophaga felis was detected as the cause of endophthalmitis and the initiated treatment resulted in quick morphological and functional recovery of the left eye. After surgery of secondary cataract, visual acuity improved from hand motion preoperatively to 1.0 postoperatively.ConclusionsEarly recognition as well as prompt and effective treatment of animal bite associated endophthalmitis is essential for good visual recovery and functional outcome. Furthermore, this case highlights the importance of daily follow-up examinations, even in the absence of signs of ocular penetration and intraocular inflammation, to enable prompt and effective treatment initiation. Given the negative results in bacterial culture, we additionally emphasize the value of sequencing-based microbiological diagnostics in unclear cases.

Leptospirosis: A Review of the Silent Threat in West Africa

Leptospirosis is a neglected tropical zoonotic disease of public health importance causing significant mortalities among animals and humans. Due to negligence, rapid, unplanned urbanization, and poor sanitation, leptospirosis emerges as a leading cause of acute febrile illness in many developing countries. Yet, an understanding of the epidemiology of leptospirosis in animals remains a knot to untie hence more scientific evidence is required on the disease epidemiology. The literature search was conducted to select and compile peer-reviewed journals, book chapters, and international organization proceedings on the epidemiology, control, and impacts of leptospirosis. In the majority of the cases reported, the infections are asymptomatic. Although recreational exposure is also known to occur, occupational exposure to rodents and other animals is the primary method of transmission. Those who are at risk include healthcare professionals, animal handlers, farmers and agricultural workers, sanitary workers, fishermen, hunters, and sewage workers. The clinical signs range from flu to acute kidney injury/failure, icterus, pneumonia, and pulmonary haemorrhage with many rare clinical manifestations being reported and documented worldwide. Leptospirosis poses a significant threat to both animal and human health globally. The intricate interplay between transmission dynamics, reservoir hosts, clinical manifestations, diagnosis, treatment, and preventive strategies highlights the complexity of this zoonotic disease.

Bilateral Hearing Loss after Carbon Monoxide Poisoning

Background: Carbon monoxide (CO) is an odorless, colorless, flammable gas that is formed by the incomplete combustion of fuels and binds to hemoglobin with 200 to 250 times greater affinity compared to oxygen. As a result, blood oxygen-carrying capacity is reduced when CO is bound to hemoglobin. Reversible and irreversible unilateral or bilateral hearing loss due to CO poisoning has rarely been reported. We present a case of an 18-year-old previously healthy male with bilateral hearing loss after severe CO poisoning. Case Report: An 18-year-old male with no past medical history presented to the emergency department (ED) after being found unconscious with emesis in his vehicle. He failed to respond to Naloxone. In the ED, he was obtunded with vital signs significant only for tachycardia of 115 bpm. Initial workup revealed leukocytosis (WBC 16.0 10*3/uL), hyperglycemia (glucose 195 mg/dl ) and high sensitivity troponin elevation (131 ng/L). Electrocardiogram revealed sinus tachycardia with an incomplete right bundle branch block. Head CT and urine drug immunoassay were negative. Several hours after ED arrival, it was reported that the vehicle had a known problem with the exhaust pipe. The patient remained unresponsive for several hours. Approximately 6 hours after ED arrival, a carboxyhemoglobin level was ordered and returned at 9.5%. A non-rebreather oxygen mask was applied and the patient began waking up shortly after. Prior to receiving the first session of hyperbaric oxygen therapy (HBO2), the patient complained of bilateral hearing loss with tinnitus. Three sessions of HBO2 were done in the first 24 hours. The patient remained with bilateral hearing loss and tinnitus with minimal improvement over the three day hospitalization. A 3 day course of dexamethasone 10 mg daily was given. Audiological testing was not performed prior to discharge. Six months after discharge, he continued to have tinnitus and hearing loss though endorsed improvement. His audiogram shows moderate hearing loss. Discussion: CO poisoning is a rare cause of hearing loss. Tinnitus with hearing loss is reported even less. The mechanism for hearing loss in the setting of CO poisoning has not been identified however it is believed to be due to tissue hypoxia. The pattern of hearing loss after acute or chronic CO poisoning is typically sensorineural and could be unilateral or bilateral, reversible or irreversible. HBO2 is commonly used to treat severe CO poisoning, and occasionally to treat idiopathic sensorineural hearing loss (ISNHL). However, HBO2 has not been described for the sole purpose of treating CO-associated hearing loss. Corticosteroids have been shown to prevent delayed neuropsychiatric sequelae after CO poisoning and to treat ISNHL, but no reported cases with CO hearing loss. Due to the potential benefits of these relatively benign interventions, the patient was treated with HBO2 and corticosteroids with improvement in symptoms. Conclusion: Hearing loss is a rare clinical manifestation of carbon monoxide poisoning with few reported cases in the literature. Resulting hearing loss may be unilateral or bilateral, and reversible or irreversible.

A Rare and Novel Pathogenic Variant of the PINK1 Gene Associated with Early-onset of Parkinson’s Disease - A Case Study

We reported a case of rare and novel PINK 1 gene variant associated with Early-onset Parkinson’s Disease (EOPD) in 40-year-old male patient. Patient was presented with clinical indications of dystonia (left>right), hemidystonia and dystonic tremors. Patient has family history (elder sister) of parkinsonism diagnosed with PD at the age of 38 years, and the condition slowly deteriorated and died. Patient was subjected to MRI investigations of brain two years before on clinical condition of right upper limb involuntary movement since from past one year. MRI findings revealed few small non- specific foci of T2 hyperintensity seen scattered in the bilateral frontal white matter (R>L)’ incidental findings of doubtful significance. Patient was referred for whole exome sequencing. The exome data analysis identified a “homozygous autosomal recessive variant” of PINK1 gene with variant nomenclature “c.823_825delATC; p.Ile275del (Chr1:20644531 ACAT>A)” could be associated with EOPD with characterized rare clinical phenotypic manifestations in the form of hemidystonia.

Osseous and Myogenic Tumors of the Choroid

Myogenic and osseous tumors of the choroid are extremely rare clinical manifestations. The most common osseous choroidal tumor is choroidal osteoma, and the most common myogenic choroidal tumor is choroidal leiomyoma. Other common osseous lesions are listed as sclerochoroidal calcification and ossified choroidal hemangioma. It is of great importance to distinguish these lesions from malignant tumors, especially malignant melanoma. Multimodal imaging methods and tissue diagnosis with biopsy and immunohistochemical markers in myogenic tumors have an important place in the diagnosis. Although it is known that these lesions are systemically benign, they can threaten vision as a result of local mass effect and complications. Since some osseous tumors may accompany systemic metabolic disorders, systemic screening should be performed in necessary cases. Although rare, metastatic choroidal leiomyosarcoma cases have been described. In this case, it is important to diagnose the tumor quickly and accurately with a good anamnesis and tissue diagnosis, and to plan the appropriate treatment considering the sensitivity of the primary tumor.

S3790 Mixed Liver Injury, Splenic Infarcts and Terminal Ileitis, a Rare Clinical Manifestation of Acute Epstein Barr Virus Infection

S3790 Mixed Liver Injury, Splenic Infarcts and Terminal Ileitis, a Rare Clinical Manifestation of Acute Epstein Barr Virus Infection

INCIDENTALLY DIAGNOSED APPENDIX DIVERTICULOSIS AFTER APPENDECTOMY

Title:
 Incıdentally Diagnosed Appendix Diverticulosis After Appendectomy
 Short Title:
 Appendix Diverticulosis
 Abstract 
 Appenix diverticulitis was first described by Kelynack in 1893. Appendix diverticulosis is a rare clinical manifestation of the appendix with a changing rate of 0.004 to 2.1% of all appendectomies. Generally diagnosed in males, and the mean age is 38. Appendix diverticulosis may be inflamed and result in appendix diverticulitis or can be incidentally diagnosed by acute appendicitis. Clinical presentation of appendix diverticulitis may be similar to acute appendicitis but clinical signs may occur slowly and mildly. 
 The thirty-five-year-old male patient was admitted to the emergency department with right lower quadrant pain. The patient has abdominal tenderness, rebound, and defense reactions with other intraabdominal infections signs. Abdominal ultrasonography was performed and appendix diameter was measured enlarged, and inflammation signs were observed in the surrounding tissue in favor of acute appendicitis. A laparoscopic appendectomy was performed. During the operation, three small herniated tissue was observed on the anti-mesenteric surface of the appendix. Acute phlegmonous appendicitis and appendix diverticulosis diagnosis were confirmed with the histopathological examination.
 Appendix diverticulosis may occur either acquired or congenital. The congenital diverticulosis is generally located on the anti-mesenteric edge and contains all layers of the appendix wall. Diagnosed appendix diverticulosis is acquired type predominantly. Appendix diverticulosis is diagnosed more commonly in patient who has cystic fibrosis or Hrschsprung’s disease. However, no relationship between colon diverticular disease and appendix diverticula has been found. There is a high risk of appendiceal neoplasms such as carcinoid tumors and mucinous adenomas. The gold standard to diagnose appendix diverticula is histopathological examination.

Spontaneous remission of skull Langerhans cell histiocytosis that had developed by repeated head injury: illustrative case.

Langerhans cell histiocytosis (LCH) was previously characterized as the proliferation of Langerhans-type histiocytes with a wide range of clinical presentations that arise mostly in children. The typical presentation is a gradually enlarging, painless skull mass. Rapid clinical deterioration is rare. A 3-year-old boy who had incurred a right frontal impact head injury demonstrated no apparent neurological deficits. He subsequently bruised the same region multiple times. The right frontal swelling gradually increased over the course of 6 days after the initial injury. Skull radiography showed no bony lesion. The same site enlarged markedly 12 days after the initial injury. Magnetic resonance imaging revealed a frontal bony tumorous lesion associated with multiple subcutaneous cystic mass lesions. The patient underwent open biopsy of the skull lesion and evacuation of the subcutaneous lesions. Histopathological examination confirmed the diagnosis of LCH. Immunohistochemical evaluation revealed positivity for CD1a and langerin and no immunopositivity for BRAF V600E. The skull lesion spontaneously disappeared 30 days after the biopsy without recurrence. Physicians should be aware of this rare clinical manifestation of LCH that developed by a repeat head injury.

Congenital Cutis Verticis Gyrata in a Newborn with Turner Syndrome: A Rare Clinical Manifestation of This Chromosomal Disease with Trichoscopic Evaluation.

Cutis verticis gyrata (CVG) is a rare disorder of the scalp that entails the development of ridges and furrows, which mimic the anatomical conformation of the brain. This skin condition has been classified in primary essential, primary non-essential, and secondary CVG, depending on the presence or absence of other associated disorders. We present the case report of a one-month-old female newborn affected by congenital CVG (CCVG), who also received a diagnosis of Turner syndrome (TS). Skin folding was present at birth and located at the left frontal region of the scalp in the sagittal plane. Our purpose was to make this pathology clinically and tricoscopically better known, since it can be related to different genetic, inflammatory, and neoplastic conditions, etc. Non-invasive investigations, such as ultrasonography (U/S) of the brain and scalp and trichoscopy, were also used to obtain the important clues necessary to help in the CVG classification. The clinical diagnosis and trichoscopical investigation of CVG may also be useful for those patients who may have a genetic disease that is not screened for during prenatal examinations.

Statin Therapy and Tendon Rupture in High ASCVD Score Patient: A Comprehensive Case Report and Literature Review

Statin-induced tendon rupture is a rare clinical manifestation that warrants attention, especially in patients with a high 10-year

Rare clinical manifestations of chronic renal failure in the oral cavity

Rare clinical manifestations of chronic renal failure in the oral cavity

Idiopathic Retinal Vasculitis, Aneurysm and Neuroretinitis (IRVAN) and Pigmented Paravenous Chorioretinal Atrophy: Pathogenesis, Diagnosis, and Treatment

Idiopathic retinal vasculitis, aneurysm, and neuroretinitis (IRVAN) syndrome, and pigmented paravenous chorioretinal atrophy (PPCRA) are rare clinical manifestations of unknown etiology. In recent years, with the widespread use of multimodal imaging methods in retinal diseases, information about the pathogenesis and course of these diseases has increased. PPCRA is often detected incidentally and is asymptomatic, whereas IRVAN, although initially asymptomatic, can threaten vision in later stages. For this reason, differential diagnosis and treatment of these diseases should be done appropriately.

Clinical characteristics of the “hot phase” of arrhythmogenic cardiomyopathy in a pediatric patient

This article describes a rare clinical manifestation of arrhythmogenic cardiomyopathy in a 13-year-old boy - the “hot phase”, characterized by severe chest pain and a significant increase on a level of troponin I. The clinical case demonstrates the difficulties of the differential diagnosis of this disease and an importance of an integrated approach to examination of the patient, including cardiac magnetic resonance imaging and genetic testing.