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1.
BMC Urol ; 23(1): 80, 2023 May 03.
Article in English | MEDLINE | ID: mdl-37138272

ABSTRACT

BACKGROUND: Blunt trauma to the urinary bladder is common with penetrating injury being a rare occasion. Most common entry pint for penetrating injuries includes buttock, abdomen and perineum with thigh being rare. There are a number of complications that may develop as a result of penetrating injury with vesicocutanous fistula being a rare occurrence that usually presents with typical sign and symptoms. CASE PRESENTATION: We present a rare case of penetrating bladder injury through medial upper thigh as an entry point that had complicated into vesicocutaneous fistula with atypical presentation of long-standing pus discharge that had been managed by incision and drainage several times with no success. MRI demonstrated a presence of fistula tract and a foreign body (piece of wood) in-situ confirmed the diagnosis. CONCLUSION: Fistulas are a rare complication of bladder injuries and can cause negative impact on the quality of life of patients. Delayed urinary tract fistulations and secondary thigh abscesses are uncommon therefore a high index of suspicion is needed for early diagnosis. This case emphasizes the importance of radiological tests in aiding the diagnosis and ultimately proper management.


Subject(s)
Cutaneous Fistula , Urinary Bladder Diseases , Urinary Bladder Fistula , Wounds, Penetrating , Humans , Urinary Bladder/diagnostic imaging , Urinary Bladder/injuries , Quality of Life , Urinary Bladder Fistula/diagnostic imaging , Urinary Bladder Fistula/etiology , Urinary Bladder Fistula/surgery , Urinary Bladder Diseases/complications , Pelvis/injuries , Cutaneous Fistula/diagnostic imaging , Cutaneous Fistula/etiology , Cutaneous Fistula/surgery , Wounds, Penetrating/complications , Wounds, Penetrating/diagnostic imaging , Wounds, Penetrating/surgery
2.
Am J Med Genet A ; 185(3): 986-989, 2021 03.
Article in English | MEDLINE | ID: mdl-33368989

ABSTRACT

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.


Subject(s)
Abnormalities, Multiple/genetics , Acrocephalosyndactylia/genetics , Codon, Nonsense , Point Mutation , rab GTP-Binding Proteins/genetics , Abnormalities, Multiple/epidemiology , Acrocephalosyndactylia/diagnostic imaging , Acrocephalosyndactylia/epidemiology , Female , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/genetics , Homozygote , Humans , Image Processing, Computer-Assisted , Infant , Male , Phenotype , Physical Examination , Tanzania/epidemiology , Tomography, X-Ray Computed , rab GTP-Binding Proteins/deficiency
3.
Am J Med Genet A ; 179(10): 2034-2038, 2019 10.
Article in English | MEDLINE | ID: mdl-31350806

ABSTRACT

We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub-Saharan Africa.


Subject(s)
Ellis-Van Creveld Syndrome/genetics , Ellis-Van Creveld Syndrome/diagnosis , Hand/diagnostic imaging , Humans , Infant , Male , Polydactyly/diagnostic imaging , Tanzania , Tibia/diagnostic imaging
4.
Pacing Clin Electrophysiol ; 41(7): 854-865, 2018 07.
Article in English | MEDLINE | ID: mdl-29786883

ABSTRACT

BACKGROUND: Hypertrophic cardiomyopathy (HCM) with or without left ventricular apical aneurysm (LVA) had been studied in the past. Midventricular obstruction associated with HCM and LVA is a unique entity that has not been distinguished previously as a separate phenotypic disease in HCM patients. METHODS: A systematic review of Pubmed and Google Scholar was conducted from inception until September 2017 for all observational studies conducted on HCM with midventricular obstruction and LVA. RESULTS: A total of 94 patients from 39 studies were included in our analysis. The mean age of the patients was 58.05 ± 11.76 years with 59.6% being males. The most common electrocardiographic finding was T wave inversion occurring in 13.8% of the cases followed by ST elevation (9.5%). Maximal left ventricle (LV) wall thickness was reported 18.89 ± 5.19 mm on transthoracic echocardiography and paradoxical jet flow was detected in 29.8% of patients. Beta-blockers (58.5%) were the most common drug therapy at baseline and amiodarone (10.6%) was the most common antiarrhythmic used for ventricular tachycardia (VT). The most common complication, VT, occurred in 39.3% of cases and the incidence of all-cause mortality was 13.8 % over 16 ± 20.1 months follow-up. Implantable cardioverter defibrillator (ICD) was used in 37.2% of patients; 25.7% of patients with ICD received appropriate shock therapy. CONCLUSION: HCM with LVA and midventricular obstruction is a unique entity that appears to be associated with high incidence of morbidity and mortality. Thus, early diagnosis and therapeutic intervention is recommended for management of this condition.


Subject(s)
Cardiomyopathy, Hypertrophic/complications , Heart Aneurysm/etiology , Ventricular Outflow Obstruction/complications , Heart Aneurysm/diagnostic imaging , Heart Aneurysm/therapy , Heart Ventricles , Humans
5.
Echocardiography ; 35(8): 1227-1229, 2018 08.
Article in English | MEDLINE | ID: mdl-29975433

ABSTRACT

Congenital inferior sinus venosus defect (SVD) is a rare congenital heart disease. Proper diagnosis of this disease is challenging and requires understanding of cardiac hemodynamics. Here, we discuss a patient with a late presentation of combined congenital inferior SVD associated with congenital pulmonary stenosis.


Subject(s)
Abnormalities, Multiple , Delayed Diagnosis , Echocardiography, Doppler, Color/methods , Electrocardiography , Heart Septal Defects, Atrial/diagnosis , Pulmonary Valve Stenosis/diagnosis , Radiography, Thoracic/methods , Humans , Male , Pulmonary Valve Stenosis/congenital , Rare Diseases , Time Factors , Young Adult
7.
J Thromb Thrombolysis ; 38(1): 78-80, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24497053

ABSTRACT

Left ventricular (LV) pseudo aneurysm is a contained rupture of ventricular wall by adherent pericardium or scar tissue. We present a case of a 70 year-old male presented with exertional dyspnea for 2 months and found to have giant LV pseudo aneurysm on transthoracic echocardiogram, cardiac MRI and angiogram. To our knowledge such a large pseudo aneurysm involving LV apex and presenting as congestive heart failure is the first case in literature.


Subject(s)
Aneurysm, False/pathology , Heart Failure/pathology , Heart Ventricles/pathology , Aged , Echocardiography , Humans , Magnetic Resonance Angiography , Male
8.
SAGE Open Med Case Rep ; 12: 2050313X241254739, 2024.
Article in English | MEDLINE | ID: mdl-38764918

ABSTRACT

Pulmonary embolism is one of the rarest complications of high-altitude sickness that can coexist with high altitude pulmonary edema. The risk of developing this phenomenon increases significantly with prolonged stay in high altitudes especially above 5000 m. Given the fatality of the condition, early screening and management is crucial; however, there is no gold standard approach in diagnosis. A 44-year-old male, a Tanzanian tourist first time hiking Mt. Kilimanjaro developed difficulty in breathing on the 4th day of ascending on a route that takes 6 days to summit whereby he was saturating at 38% on room air at the height of 4775 m. He was admitted with the clinical diagnosis of high altitude pulmonary edema. However, in the course of treatment for 72 h with no improvement, further investigations including computed tomography scan were suggestive of pulmonary embolism whereby he was treated with full recovery. Pulmonary embolism case reports are increasingly rising with the difficult to notice among high altitude pulmonary edema patients given their presentation similarities. A high index of suspicion based on clinical examination and investigations should prompt a clinician to include or exclude it.

9.
Clin Case Rep ; 12(6): e8934, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38799530

ABSTRACT

Key Clinical Message: Button battery ingestion has been a common condition encountered by otorhinolaryngologists. Impaction in the esophagus can lead to serious and fatal complications such as tracheoesophageal fistula. Management involves a multidisciplinary team and varies from supportive therapy to surgical intervention. Abstract: Ingestion of button batteries has been seen with increasing frequency over the past decade. In several small numbers of reported cases, their impaction in the esophagus has led to severe, sometimes fatal, complications. The management of these cases has varied from expectant, supportive therapy to early surgical intervention. We report a case of button battery ingestion that was diagnosed late and resulted in a complication of tracheoesophageal fistula with migration to the thorax which was managed by open surgery.

10.
Case Rep Surg ; 2024: 7777258, 2024.
Article in English | MEDLINE | ID: mdl-38223374

ABSTRACT

Intussusception is rarely seen in adulthood but is commonly seen in the pediatric age group. Causes of intussusception in adults are commonly due to tumors and inflammatory diseases. Intussusception in adults accounts for less than 5% of intestinal obstruction. Colonic lipomas are usually asymptomatic and are mostly managed surgically with promising outcomes as seen in our case.

11.
J Invasive Cardiol ; 36(1)2024 Jan.
Article in English | MEDLINE | ID: mdl-38224301

ABSTRACT

We present a case of a 57-year-old male who underwent bioprosthetic mitral valve replacement (MVR) and developed postoperative cardiogenic shock requiring venoarterial extracorporeal membrane oxygenation (VA ECMO) and Impella 5.5 (Abiomed) hemodynamic support.


Subject(s)
Balloon Valvuloplasty , Extracorporeal Membrane Oxygenation , Pulmonary Veins , Male , Humans , Middle Aged , Mitral Valve/diagnostic imaging , Mitral Valve/surgery , Postoperative Period
12.
Heart Lung Circ ; 22(9): 775-7, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23415891

ABSTRACT

Tako-tsubo cardiomyopathy was first described in Japan in 1990. The clinical presentation of Tako-tsubo cardiomyopathy (TCM) is similar to an acute myocardial infarction with patients having chest pain, ST segment elevations on EKG and elevated cardiac biomarkers. In TCM, however, the elevation in cardiac enzymes is usually mild. We report a case of TCM where the patient had Troponin I elevation up to 42.3 ng/ml. To the best of our knowledge, this is the first case in which such high troponins have been reported in a patient with Tako-tsubo cardiomyopathy.


Subject(s)
Takotsubo Cardiomyopathy/blood , Troponin I/blood , Biomarkers/blood , Female , Humans , Middle Aged
13.
Clin Case Rep ; 11(4): e7214, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37096168

ABSTRACT

Sclerosing epithelioid fibrosarcoma (SEF) is a rare and distinctive variant of fibrosarcoma. To date, about 100 cases only have been documented. Histopathologically, it resembles a variety of benign, pseudosarcomatous and other malignancies. Early diagnosis and treatment are vital for improving the treatment outcomes.

14.
Int J Surg Case Rep ; 102: 107828, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36463689

ABSTRACT

INTRODUCTION AND IMPORTANCE: Chyle is a lipid-rich, milky-appearing fluid originating from lymph tissues. Chylous ascites is the collection of chyle in the peritoneal cavity and is a rare pathology. CASE PRESENTATION: In this case report we share our experience of successfully managing chylous ascites conservatively from a resource-limited setting. CLINICAL DISCUSSION: There are numerous causes hence management includes treating the cause. Generally responds well to conservative management however some cases require surgical intervention. CONCLUSION: Ascitic tapping is an effective diagnostic and therapeutic tool is chylous ascites.

15.
Int J Surg Case Rep ; 110: 108709, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37633195

ABSTRACT

INTRODUCTION: Tuberculosis (TB) is one of the leading causes of mortality and morbidity in the world, especially in developing countries that account for 98 % deaths among TB cases. Although TB is primarily a disease of the lungs, extrapulmonary manifestations have been reported. Although CNS tuberculoma mostly affects immunocompromised people, it also affects healthy people at extremes of age. Imaging of intracranial tuberculoma may look like neurocysticercosis, and other ring-enhancing lesions hence imposing a diagnosis dilemma. CASE PRESENTATION: A 13-year-old female presented with headache, convulsions, blurry vision, and gait disturbance for six months. Brain imaging showed a left cerebellar lesion with obstructive hydrocephalus. She underwent ventriculoperitoneal shunting on admission, then sub-occipital craniotomy with tumor resection one week later. Histology confirmed a diagnosis of tuberculoma. She was given anti-tuberculosis medications and she was discharged home healthy without any of the symptoms she had on admission. DISCUSSION: Although only about 1 % of active tuberculosis cases presents as CNS TB, 5-10 % of intracranial space-occupying lesions in developing countries are tuberculomas. Provisional diagnosis of tuberculoma can be made through clinical history, examination, and neuroimaging. However, it is challenging because neurocysticercosis also appears as a ring-enhancing lesion in the brain and has almost similar prevalence in low-income settings. Being immunocompetent with no history of tuberculosis or constitutional symptoms, a diagnosis of tuberculoma was only confirmed by histology. CONCLUSION: A high index of suspicion for CNS tuberculomas in TB endemic areas should be kept in patients presenting with features of intracranial space-occupying lesions regardless of the absence of risk factors.

16.
SAGE Open Med Case Rep ; 11: 2050313X231168555, 2023.
Article in English | MEDLINE | ID: mdl-37122428

ABSTRACT

A 35-year-old man presented with a right lateral neck mass for 6 years. Thyroid function test was within normal limits. Computed tomography scan of the neck was suggestive of branchial cyst, tuberculous lymphadenopathy and normal thyroid gland. Fine needle aspiration cytology of cervical lymph node was suggestive of metastatic carcinoma. Branchial cystectomy spearing the thyroid gland was undertaken. Histopathology analysis of the resected specimen confirmed it to be papillary thyroid carcinoma originating from ectopic thyroid tissue in a branchial cyst. The patient was scheduled for total thyroidectomy and neck dissection. Unfortunately, he was lost to follow-up. A brief review of the literature regarding this unusual presentation of thyroid cancer has been provided.

17.
J Surg Case Rep ; 2023(4): rjad187, 2023 Apr.
Article in English | MEDLINE | ID: mdl-37057058

ABSTRACT

Metanephric adenoma is an uncommon renal tumor with almost exclusively benign behavior, which can clinically and radiologically imitate malignancy. The histological examination is therefore crucial in diagnosis. Herein, we report a case of an 18-year-old male with a huge left renal mass. Histopathology and immunohistochemistry of nephrectomy resection specimen confirmed it to be metanephric adenoma. We present our experience with this rare tumor entity and literature review with focusing on differential diagnosis.

18.
Int J Surg Case Rep ; 111: 108804, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37703698

ABSTRACT

INTRODUCTION AND IMPORTANCE: Brain metastasis is the most common associated consequence of primary lung cancers, and it has a major detrimental influence on patients' survival and quality of life. Modern imaging modalities such as brain MRIs and PET scans are preferred for assessing these lesions. Complete surgical resections have been shown to enhance survival. CASE PRESENTATION: We present the case of a 59-year-old male patient who had a history of progressive left-sided weakness and right-sided headaches with no respiratory symptoms. A solitary brain lesion was noticed, prompting a surgical resection. Histology findings confirmed brain metastases, and a thoracic CT scan revealed a primary lung tumour. The patient was scheduled for chemotherapy. DISCUSSION: Primary lung tumors often disseminate to the brain. The brain metastatic lesions in advanced lung cancer are often numerous and smaller in size, based on MRI imaging. The patient's symptomatology obscured the existence of an underlying lung tumour, delaying focused therapy. The early symptomatology and scans of our patient indicated the probability of a solitary brain tumour, necessitating a surgical excision. CONCLUSION: Prompt management of brain metastatic lesions is crucial. Yet, some patients emerge with atypical characteristics of the lesions that hint to a primary brain lesion and conceal the presence of a lung tumour. Enhancing these patients' prognoses necessitates a targeted therapy that includes a comprehensive examination, radiological imaging, and recognition of the distinctive brain patterns in patients with lung cancer. The merits of complete or incomplete resections for multiple brain metastatic lesions might be a fascinating subject of discussion.

19.
J Surg Case Rep ; 2023(3): rjad126, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36942289

ABSTRACT

Blast injuries are subjected to high morbidity and mortality in the general population. They cognate to single or multiple organ-related injuries that may be life-threatening. The unique injury patterns of blast injuries make treatment therapy complex. An adult male patient presented to our setting with multiple severe deep burn wounds resulting from a dynamite explosion. His computed tomography (CT) scan revealed numerous sharp shards around his body and a ruptured hemiscrotum with exposed testicles. Surgery was immediately done and with a good post-operative outcome. The severity of these injuries escalates in relation to the proximity of the explosions. A CT scan is an imperative diagnostic imaging modality. Treatment involves resuscitation, optimization, excision of non-viable tissues and damage control surgery. Delays in management may have detrimental consequences. Therefore, for physicians to manage the diverse injury manifestations that these patients may present with, they must grasp the pathophysiological patterns of blast injuries.

20.
Int J Surg Case Rep ; 108: 107896, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37301671

ABSTRACT

INTRODUCTION: Plexiform fibromyxoma (PF) is a rare benign mesenchymal neoplasm of stomach recognized by the WHO. The tumor often arises in the antrum and pyloric region of the stomach. Morphologically, PF tumors display bland spindle cells in myxoid or fibromyxoid stroma and can be misdiagnosed as gastrointestinal stromal tumor (GIST). PRESENTATION OF CASE: A-21-year old female presented to emergency department with peritonitis due gastric tumor leading to gastric perforation and pus collection in the abdomen. Partial gastrectomy was performed. Histopathology, immunohistochemical (IHC) and fluorescent in-situ hybridization assessment of the specimen confirmed the diagnosis of PF. One year postoperative, the patient remains symptoms free. CLINICAL DISCUSSION: A great majority of gastric mesenchymal tumors are GIST. Histopathologically, PF tumors display a multinodular and plexiform architecture with arborizing vasculature. Cytologically these tumors show bland spindle cells in myxoid or fibromyxoid stroma with a rare or no mitotic figures. Thus, PF may easily be under recognized or misinterpreted without the pathologists' knowledge of this entity. Misinterpreting PF as GIST can lead to inappropriate treatment including unnecessary surgery and/or chemotherapy, which is an expensive. Recommended treatment is surgical excision. Metastases and recurrence following complete excision have not been described. This case highlights unexpected presentation in a young female where other competing diagnoses were more plausible before considering PF diagnosis which could not have been established without advanced diagnostic techniques. CONCLUSION: PF is a rare mesenchymal tumor with nonspecific clinical characteristics. It is principally located in the gastric antrum and prepyloric regions, however other parts of the body may be affected. PF tumors should be separated from GIST, nerve sheath tumors, and other fibromyxoid neoplasms. The worth in writing lies in epidemiological custodianship for such a unique presentation of a rare gastric neoplasm.

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