Anorectal Melanoma: A Case Report.

Anorectal mucosal melanoma (AMM) is an infrequent and highly aggressive form of mucosal melanoma. Its rarity makes it challenging to clinically diagnose, and its initial symptoms are typically nonspecific such as rectal/anal bleeding (the most common symptom), anal pain, or the presence of an anal mass. The prognosis for this condition is generally poor, and its incidence appears to be increasing each year. AMMs often go undetected and/or are already metastasized at the time of diagnosis. We present a case report of a patient who initially presented with nonspecific symptoms of anemia and blood per rectum, and was later found to have stage IV melanoma of the anorectal region. There is a notable scarcity of literature on this disease, resulting in a lack of a comprehensive understanding of its nature. Most available information consists of isolated case reports rather than comprehensive studies. Although surgical resection remains the primary treatment approach, the majority of patients (over 80%) will die due to distant metastasis within five years after undergoing surgery. The five-year survival rate for anorectal melanoma is estimated to be between 6% and 22%.

The Pattern of Initial Presentation of Diabetes, Treatment Outcome and Its Predictors Among Diabetic Pediatrics Attended Service at Selected Public Hospitals of Southern Ethiopia: A Multi-Center Study.

Background: Diabetes mellitus is the most common metabolic disorder in the pediatric population. Globally the incidence of diabetes increased from 11.3 million (95% UI 10.6-12.1) in 1990 to 22.9 million (21.1-25.4) in 2017, with a 102.9% increase and there was a 3% increase in diabetes mortality rates by age between 2000 and 2019. Objective: This study aims to assess the pattern of initial presentation of pediatric diabetes mellitus, treatment outcome, and its predictors among pediatrics who attended service at selected public hospitals in southern Ethiopia from 2015 to 2019. Methods: A cross-sectional study was conducted among 422 randomly selected pediatrics from October 1st, 2021 to December 30, 2021, and participants were selected randomly from 8 randomly selected public hospitals in southern Ethiopia after proportional to client flow allocation of samples. Data was extracted from clients' charts using a data extraction checklist. Statistical Package for Social Sciences (SPSS) version 24, and logistic regression analysis were applied to determine the presence of an association between dependent and independent variables, and significance was declared at p-value <0.05. Results: In this study, most (74.6%) of the pediatrics initially presented with Diabetic ketoacidosis (DKA). This study found that Two-thirds (67.1%) of the respondents in the study had a good treatment outcome. In this study residence, presenting signs and symptoms; poly symptoms and weight loss, history of hospitalization, and comorbidity were predictors of treatment outcome of pediatric diabetes mellitus. Conclusion: Diabetes mellitus with Diabetic ketoacidosis is the predominant pattern of initial presentation in the study. The magnitude of poor treatment outcomes of diabetes mellitus among pediatrics in this study is high and unacceptable Residence, signs, and symptoms at initial presentation, history of hospitalization, and comorbidity were found to be significant independent predictors of treatment outcome of pediatric diabetes mellitus.

Bilateral Optic Disc Edema as an Initial Presentation of Acute Retinal Necrosis.

PURPOSE: We reported a case of acute retinal necrosis (ARN) that presented as isolated bilateral optic disc edema. METHODS: A case report. CASE: A 68-year-old male with a 3-day history of progressive blurred vision presented with isolated bilateral optic disc edema. Through history taking, we found that he was diagnosed with herpes zoster affecting the lumbar and sacral dermatomes in the past month. Five days later, the patient experienced acute deterioration in visual acuity, with the left eye deteriorating to perception of light only. Bilateral retinal necrosis was noticed. We tested the aqueous samples with polymerase chain reaction and identified positive varicella-zoster virus (VZV) results. A diagnosis of bilateral acute retinal necrosis caused by VZV infection was established and we administered intravitreal and intravenous antiviral medications, steroids, and performed prophylactic scleral buckling. SUMMARY: This report demonstrates a rare ARN case initially presented with isolated bilateral optic disc edema.

Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature.

Spinocerebellar ataxia type 3 (SCA3), as the most frequent autosomal dominant ataxia worldwide, is characterized by progressive cerebellar ataxia, dysarthria and extrapyramidal signs. Additionally, autonomic dysfunction, as a common clinical symptom, present in the later stage of SCA3. Here, we report a 44-year-old male patient with early feature of autonomic dysfunction includes hyperhidrosis and sexual dysfunction, followed by mild ataxia symptoms. The Unified Multiple System Atrophy Rating Scale (UMSARS) indicated significant dysautonomia during autonomic function testing. Combination of early and autonomic abnormalities and ataxia would be more characteristic of the cerebellar type of multiple system atrophy (MSA-C), the patient's positive family history and identification of an ATXN3 gene mutation supported SCA3 diagnosis. To best of our knowledge, the feature as the initial presentation in SCA3 has not been described. Our study demonstrated that autonomic dysfunction may have occurred during the early stages of SCA3 disease.

Prevalence of skeletal-related events in hormone-naive prostate cancer in a low resource setting.

Background: Presentation with symptoms of advanced prostate cancer is prevalent in developing societies. The objective of this study was to determine the rate of and factors associated with skeletal-related events (SREs) at presentation with hormone-naïve prostate cancer. Methods: Records of 331 consecutive prostate cancer patients from January 2009 to April 2018 were reviewed. The prevalence of SRE at the presentation was determined. In addition, the relationships between SRE and age of patient, duration of clinical features, serum total prostate-specific antigen (tPSA) and biopsy Gleason score (GS) at presentation were evaluated. Analyses were done with IBM SPSS® version 25. Results: Mean age was 69.8 ± 8.0 years. While 43.8% of patients had lower urinary tract symptoms (LUTS) only, 51.4% had LUTS and other features of disease progression. Only 2.1% of the cases were confirmed from screen detection of elevated serum tPSA. SREs were observed in 11.8% at first presentations with hormone-naïve prostate cancer. Symptom duration (odds ratio [OR] 0.94; 95% confidence interval [CI] 0.90-0.99; P = 0.02), anaemia that could not be attributed to gross haematuria or external blood loss (OR 9.6; 95% CI 3.12-29.52; P < 0.001) and transrectal biopsy GS (OR 1.61; 95% CI 1.17-2.22; P = 0.003 ) were significantly associated with SREs at presentation with hormone-naïve prostate cancer. Conclusions: Evidence exists that patients who present with SREs from more aggressive prostate cancers may have had more rapid symptom progression, but not a longer delay before presentation.

Clinically Ambiguous Hemorrhagic Cardiac Tamponade Associated with Apixaban.

Hemorrhagic cardiac tamponade in the setting of direct oral anticoagulants (DOACs) is rare but life-threatening. Presentation in subacute cases can also be nonspecific, which can potentially delay diagnosis. A 60-year-old female with a history of heart failure and chronic obstructive pulmonary disease presented with shortness of breath, chest pain, and cough while on treatment with apixaban after a recent hospitalization for pulmonary embolism. Clinical presentation was consistent with multiple diagnoses, including pneumonia and heart failure exacerbation. However, there were several risk factors for hemopericardium with DOACs such as elevated creatinine, hypertension, elevated international normalized ratio (INR), and concomitant use of medications with similar metabolic pathways as apixaban. In addition, subtle findings on examination such as oximetry paradoxus and electrical alternans were crucial for an early diagnosis and management. In this case, we discuss key characteristics of hemopericardium with DOACs, as well as considerations on its management.

Acute lymphoblastic leukemia presenting with limping in a young adult.

Acute lymphoblastic leukemia is one of the rare malignancies in adult. We report a 29-year-old man presented with progressive limping followed a chronic back pain. Imaging showed reduced vertebral body height and diffuse lytic skeletal infiltration. Bone marrow aspiration confirmed B-acute lymphoblastic leukemia/lymphoma, and the patient was treated with chemotherapy.

Unilateral upper limb chorea associated with hyperthyroidism: A case report and literature review.

Chorea, a hyperkinetic syndrome, is generally reported in patients with Huntington's disease (HD), hyperglycemia, and other diseases but occasionally occurs in patients with Grave's disease. Here, we report a 44-year-old woman presenting with a 1-year history of involuntary movements with a known history of primary hyperthyroidism. Physical examination revealed the continuous, rapid, irregular, and spontaneous choreic movement of her right arm. Laboratory investigations demonstrated increased triiodothyronine (T3) and free thyroxine (FT4) and suppressed thyroid-stimulating hormone (TSH) levels. An electroencephalogram and brain magnetic resonance imaging were normal. After antithyroid treatment, the patient achieved complete remission. Our case indicated that hemichorea might initially manifest hyperthyroidism. Therefore, thyroid function tests should be routinely performed in patients with chorea.

Intramedullary Spinal Cord Metastasis as Initial Presentation of Malignant Melanoma: A Unique Case Report and Role of Contrast vs Non-contrast MRI in Its Diagnosis.

Intramedullary spinal cord metastasis (ISCM) is a diagnostically challenging and dreadful complication of cancer. Twenty-seven cases of ISCM exclusively related to malignant melanoma have been reported so far in a recent study.On review of literature, we could not find any reported case with ISCM secondary to malignant melanoma as initial presentation. To the best of our knowledge, we are reporting the first such case. We report a case of a 71-year-old lady presenting with gradual onset of bilateral leg weakness "off legs" and lower limb paresthesias. On examination she had an upper motor neuron pattern lower limb weakness with reduced sensations to all modalities and brisk reflexes with extensor plantar responses. She was evaluated with non-contrast MRI (magnetic resonance imaging) spine which showed focal myelopathic cord signal at the conus and at the level of T10 and T11 vertebrae (radiological differential diagnosis given on MRI were B12 deficiency/inflammatory/infection). Thorough radiological scans were ordered which revealed a disseminated malignancy. A biopsy sample from gastric lesion revealed diagnosis of malignant melanoma. A repeat MRI whole spine with gadolinium contrast was done later with suspicion of spinal metastasis which has led to lower limb weakness. MRI with contrast showed an enhancing soft tissue metastatic mass lesion within conus in comparison with plain MRI done one week earlier. At present, diagnostic modalities available for diagnosing ISCM particularly secondary to melanoma do not have high specificity. Contrast MRI is the diagnostic modality of choice at present. Non-contrast MRI has low sensitivity in diagnosis of ISCM compared to contrast MRI and could potentially delay the management, especially in highly aggressive malignancies like malignant melanoma where an early diagnosis and treatment is critical for better outcome.

IgA vasculitis (Henoch-Schönlein purpura): refractory and relapsing disease course in the adult population.

BACKGROUND: The disease course of adult immunoglobulin A (IgA) vasculitis (IgAV; Henoch-Schönlein purpura) has not been well defined. METHODS: In a retrospective survey, we studied 85 adult IgAV patients with extended follow-up (median 43 months) for 67 patients. RESULTS: Only 33 of 67 (49%) achieved complete remission. Ongoing renal disease was the most common persistent organ manifestation, but extra-renal disease activity was also present in >50% of patients not achieving complete remission. Twenty-nine of 67 (43%) had relapsing disease, with 18/67 (27%) experiencing several relapses. Skin disease was the most common feature in relapsing patients, followed by nephritis. At 4 years of follow-up, 6 of 29 (21%) experienced progressive disease and 10/29 (34%) relapsing disease. Five of 67 (7%) developed nephritis after diagnosis, within the first 6 months of follow-up. At final follow-up, 10 of 67 (15%) had chronic kidney disease Stage ≥G3a, 18 (27%) haematuria and 13 (19%) proteinuria. No therapy appeared particularly effective and only 6/17 patients treated with mycophenolate mofetil experienced a good response. CONCLUSIONS: The disease course of adult IgAV is different from that seen in children, with higher frequency of persisting and relapsing disease. Renal disease is the main determinant of ongoing disease activity, but extra-renal features were seen in >50% of patients with chronic disease activity. No clear conclusions on use or choice of immunosuppressive agent could be made based on our experience.

Calvarial metastasis from adenocarcinoma of lung: An uncommon initial presentation diagnosed by cytology.

Bone metastasis from lung primary is not uncommon and about one-third of bone metastases originate from lung. However, skull bone metastasis is uncommon from lung carcinoma. Metastasis to skull bone and scalp as an initial presentation of lung carcinoma is a very rare phenomenon. We have diagnosed a case of calvarial metastasis with scalp swelling as an initial presentation of adenocarcinoma of lung by fine-needle aspiration cytology in an aged female. Radiologically, it was suggested as tuberculous lesion but cytology gave the correct diagnosis. Here, we present a rare case of calvarial metastasis as a presentation of adenocarcinoma of lung in an elderly female.

Subtle Dysphagia as an Initial Presentation of Hidden Malignancy: A Report of 2 Cases / 대한연하장애학회지

Subtle dysfphagia, which is increased post-swallowing remnants, is a frequent finding in the elderly with various etiologies. These changes in swallowing are frequently overlooked by physicians. On the other hand, subtle changes evident on a videofluoroscopic swallowing study (VFSS) may suggest hidden disease. Therefore, clinicians should evaluate incidental dysphagia. Case 1: A 65-year-old man with no relevant medical history, presented with dysphagia and residual sensation during meals. VFSS showed moderate post-swallowing remnants in the vallecular fossa and pyriformis sinus. Further examination revealed prostate cancer with multiple bone metastases including the skull. Case 2: A 60-year-old man complained of residual sensation after swallowing, which started 2 months ago. He had a history of lung cancer. Pharyngeal residue was observed on VFSS. A brain metastasis was observed on MRI. Post-swallowing residue is often neglected or overlooked by clinicians who regard them as the features of aging. The present cases show that mild dysphagia with increased post-swallowing remnants may be an initial presentation of a hidden malignancy with metastasis. Physicians should consider unexplained dysphagia or tongue atrophy as possible initial presentations of hidden malignancies.

Predictability of successful trans-arterial embolization in pelvic fracture bleeding based on patient initial presentation.

BACKGROUND: Pelvic fracture bleeding generally leads to hemorrhagic shock. Trans-arterial embolization (TAE) is regarded as the most useful treatment; however, the initial presentation of the patient can impact the effectiveness of TAE for pelvic fracture bleeding. The aim of this retrospective study is to explore whether the patient data at the initial presentation can predict the success of TAE for pelvic fracture bleeding. METHODS: Twenty-seven charts were retrospectively reviewed. TAE failure was defined as any patient who eventually received an exigent laparotomy or who died due to uncontrolled bleeding after TAE. For patients who received TAE, we analyzed factors recorded at the initial presentation, including age, gender, systolic blood pressure, heart rate, respiratory rate, body temperature, Glasgow coma scale (GCS) score, injury severity score (ISS) and associated injuries, using Pearson's correlation and independent t-tests. The odds ratio was used to determine the cut-off values for the patient presentation findings related to successful TAE and thus was used to assess congruity. RESULTS: Successful TAE was not correlated with age or gender. The hierarchical order of statistically significant associations between successful TAE and initial presentation data was as follows: the patient's body temperature, associated injury, respiratory rate, systolic blood pressure, GCS score, and ISS. The odds ratios for all statistically significant initial presentation factors were within a 95% confidence interval. CONCLUSION: The findings upon initial presentation of a patient with pelvic fracture bleeding that were related to the predictability of successful TAE include the following: hypothermia prevention with maintenance of the body temperature above 36°C, associated injuries limited to two organ systems, maintenance of the respiratory rate at approximately twenty-two breaths per minute, a sustained systolic blood pressure of approximately 90mmHg, maintenance of a heart rate of approximately one hundred beats per minute, a minor head injury with a GCS score greater than thirteen and a moderate ISS of less than twenty.

Pre-B acute lymphoblastic leukemia with t(1;19) in an adult initially presenting as hematuria and bilateral renal enlargement: a case report and literature review.

Although pre-B acute lymphoblastic leukemia (ALL) is the most common type of renal leukemic infiltration; the renal infiltration with leukemia cells as the initial manifestation of leukemia is very rare. Translocation (1;19)(q23;p13) is one of the most common chromosomal abnormalities in patients with ALL and is observed in 5 - 6% of children with pre-B ALL. However, the incidence of t(1;19) in adults is lower, not exceeding 3%, and the prognosis of adult patients is usually poor. Herein, we report a 52-year-old female patient with pre-B ALL who initially presented as bilateral renal enlargement. The cytogenetic analysis revealed chromosomal abnormalities including t(1;19). The patient underwent three consecutive courses of chemotherapy with VDLP (vincristine, daunorubicin, L-asp, and prednisolone) and gained a short complete remission. Her kidneys recovered to normal size, and renal function returned to normal level. However, after complete remission for only 3 months, the patient exhibited resistance to consolidation chemotherapy and indicated evidence of marrow relapse. Although we increased the drug dosage and attempted to use a different protocol, she died of severe anemia and hemorrhage almost 10 months after she was first admitted. In conclusion, pre-B cell ALL is the most common type of leukemia to present with renal infiltration as the presenting sign. Because of the poor outcome of ALL, some new therapeutic approaches may improve the patients' conditions.

Isolated Ileal Perforation in Infancy: A Lethal Initial Presentation of Hirschsprung's Disease.

Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed. A totally collapsed microcolon was identified. Biopsies were taken from the high rectum, sigmoid and hepatic flexure. Appendectomy and ileostomy were performed. All biopsies, as well as the appendix, showed absence of ganglion cells. Despite this procedure the patient progressively deteriorated and later died due to sepsis. Ileal perforation in infants is a rare, but potentially fatal initial presentation of TCA. Early detection is essential to prevent life-threatening complications.

Orbital metastasis as the initial presentation of lung adenocarcinoma: a case report.

Orbital metastasis as the initial presentation of lung adenocarcinoma is very rare, and so the lack of knowledge about this phenomenon can easily result in misdiagnosis, either as a orbital primary tumor or benign lesion. Here, we report a rare case in which the orbital symptom appeared first without any pulmonary manifestations. Our patient developed decreasing vision in his right eye over a 3-month duration. He then presented with proptosis and multiple aches from head to back. After systemic evaluation, our patient was diagnosed with Stage IV non-small-cell lung cancer and was managed with palliative chemoradiotherapy. The final result of treatment suggests that the therapeutic efficacy of chemotherapy on orbital metastasis is uncertain, and only some orbital metastatic masses may have a favorable response to radiation. Furthermore, we review the recent data and provide an in-depth discussion on the clinical features and course of ocular pulmonary metastases, and explain a new type of non-small-cell lung cancer metastatic pattern for ophthalmologists and oncologists to help them distinguish the orbital metastasis as the first manifestation.

The Effect of Age, Sex, and Lesion Location on Initial Presentation in Patients with Brain Arteriovenous Malformations.

OBJECTIVE: To identify whether age, sex, and lesion location are associated with initial presentation in patients with brain arteriovenous malformations (AVMs). METHODS: Collected data of 3299 consecutive patients with AVM treated at Beijing Tiantan Hosptial from January 1980 to January 2015 were analyzed. The variables assessed were age at diagnosis, sex, AVM location, and mode of initial presentation. RESULTS: Initial presentation was AVM hemorrhage in 57.9%, seizure in 20.9%, chronic headache in 14.9%, focal neurologic deficit in 5.2%, and incidental in 1.2%. Younger age and female sex were associated with initial hemorrhage (all P < 0.05). Hemorrhage was more likely to occur in patients with AVMs in the basal ganglia, the corpus callosum, the ventricles, the cerebellum, and the brainstem (all P < 0.05). Male sex was associated with initial seizure (P < 0.05). Initial seizure was more likely to occur in patients with AVMs in the frontal, temporal, parietal, frontotemporal, and frontoparietal lobe (all P < 0.05). Compared with frontal AVMs, temporal AVMs were more likely to present with hemorrhage (P < 0.05) and less likely to present with seizure (P < 0.05). AVMs involving the occipital lobe were more likely to present with chronic headaches (P < 0.05). CONCLUSIONS: Initial AVM presentation varied with patient age, sex, and AVM locations. Younger age, female sex, and deep and infratentorial locations may be associated with initial hemorrhage. Male sex and frontal, temporal, and parietal AVM locations may be predictors of initial seizure. Chronic headache was more likely to occur in patients with AVMs involving the occipital lobe.

Pancytopenia in Multiple Myeloma- An Enigma: Our Experience from Tertiary Care Hospital.

INTRODUCTION: Multiple myeloma is a plasma cell neoplasm that is characterized by clonal proliferation of malignant plasma cell in the bone marrow along with M-protein in the serum and/or urine. Pancytopenia as a initial presentation of multiple myeloma is quite unusual. We are presenting a case series having pancytopenia as the presenting complaint. MATERIALS AND METHODS: A retrospective study was conducted for a period of 30 months, wherein all the cases of multiple myeloma presenting with pancytopenia were included. The complete blood picture, peripheral smear examination, bone marrow aspirate & protein electrophoresis of all the cases were reviewed & analysed. RESULTS: During the study period, 10 cases presented with pancytopenia with a mean age of 66.3 years (range: 59-72 years) at presentation with male: female ratio being 8:2. Fatigue and weakness was the most common symptom (100%) & average ESR was 104 mm/hour. High-resolution serum electrophoresis, showed a dense, sharp to wide M band in the gamma globulin region. Bone marrow plasma cell percentage was increased with an average of 63.1%. Bone marrow biopsy correlation was obtained in 100% cases. CONCLUSION: Diagnosing multiple myeloma, presenting as pancytopenia requires a high degree of suspicion to avoid delay in initiation of treatment.

Cardiac Tamponade as Initial Presentation of Hodgkin Lymphoma.

Cardiac involvement in malignant lymphoma is one of the least investigated subjects. Pericardial effusion is rarely symptomatic in patients of Hodgkin lymphoma (HL). Few case reports are available in the literature. There are case reports of diagnosed HL patients presenting with pericardial effusion. HL patients who present with recurrent episodes of pericardial effusion have also been reported. Pericardial effusion has also been reported in cases of non HL. However, pericardial effusion leading to cardiac tamponade as an initial presentation of HL is extremely rare. Very few such cases are there in the literature. Here, we present a case of a 26-year-old male patient who presented with cardiac tamponade and in due course was found to be a case of classical type of HL. This case is interesting because of its presentation.