Medicine
Permanent URI for this communityhttp://repository.kln.ac.lk/handle/123456789/12
This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
Browse
7 results
Search Results
Item Presentation of disseminated neuroblastoma mimicking Bell’s palsy: a case report(BioMed Central, 2025-01) Gunawardana, S.; Jogaprajahpan, G.; Dayasiri, K.BACKGROUND Neuroblastoma is an embryological malignancy of neural crest cells that may have diverse presentations owing to direct effects, metastases, or paraneoplastic syndromes. Facial nerve palsy is an extremely rare presentation of neuroblastoma.CASE PRESENTATION A previously healthy 1-year-and-10-month-old Sinhalese girl presented with difficulty in closing her left eye for 2 weeks, preceded by deviation of her mouth to opposite side. Initial physical examination was normal, apart from left lower-motor-type facial nerve palsy. Initial laboratory investigations were also normal. A tentative diagnosis of Bell's palsy was made. However, magnetic resonance imaging of the brain was performed owing to the incidental detection of a painless bulge in the left zygomatic region with overlying skin bruising, in the absence of any preceding trauma. Magnetic resonance imaging of the brain revealed a soft-tissue mass in the left lateral orbital wall, extending to the body of the sphenoid and bulging into the left anterior fossa. Contrast-enhanced computed tomography of the abdomen, performed subsequently, showed an intra-abdominal large paravertebral soft-tissue mass. Histology of the abdominal mass confirmed poorly differentiated neuroblastoma.CONCLUSION Facial nerve palsy is well recognized to have a myriad of underlying etiologies, including hematological malignancies, solid tumors, and paraneoplastic syndromes. However, its timely diagnosis is often challenging in the absence of other supportive clinical features. These children need careful and thorough evaluation for malignancies before commencing steroids, especially when underlying malignancy is likely.Item Acute hemolytic crisis complicated with ischemic cardiac injury and methemoglobinaemia following ingestion of naphthalene: a case report(BioMed Central, 2024-12) Dayasiri, K.; Pathiraja, H.; Thadchanamoorthy, V.BACKGROUND Naphthalene is an aromatic hydrocarbon that potentially produces methemoglobinaemia but rarely causes hemolysis, especially in children with underlying glucose-6-phosphate dehydrogenase deficiency. Although ingestion of a single moth ball by an older child may not be life threatening, it can be fatal if ingested by a toddler. CASE PRESENTATION A 2-year-old Singhalese boy developed acute severe hemolysis and methemoglobinaemia following ingestion of a mothball. On admission, the patient was ill and pale. The child was tachycardic and tachypnoiec with oxygen saturation of 76% on air. Blood investigations showed significant anemia, elevated reticulocytes, and evidence of hemolysis in a blood picture, along with elevated lactate dehydrogenase and indirect bilirubin. Child also had ST depressions on electrocardiogram examination with negative troponin-I. He was given four packed red blood cell (PRBC) transfusions and was successfully discharged in 3 days time following optimal supportive treatment. A glucose-6-phosphate dehydrogenase assay confirmed the diagnosis of glucose-6-phosphate dehydrogenase deficiency in this child: 0.9 U/gHb (4.0-13.0 U/gHb).CONCLUSION This case report highlights a rare life-threatening presentation of naphthalene ingestion in a child with previously undiagnosed glucose-6-phosphate dehydrogenase deficiency. Ingestion of even a single moth ball can be fatal in vulnerable children given the altered toxicokinetics of naphthalene in children.Item Attempted one anastomosis gastric bypass converted to a sleeve gastrectomy in an adult patient with asymptomatic intestinal malrotation: A case report(SAGE Publications, 2024) Jayarajah, U.; Sathasivam, K.; Kumarage, S.; Wijeratne, T.Unexpected encounters during surgery for obesity such as midgut malrotation cause specific technical challenges to the surgeon. We present a rare case of asymptomatic complete intestinal malrotation midway during a one anastomosis gastric bypass procedure. A 62-year-old male with a body mass index of 49 kg/m2 and metabolic syndrome was planned for one anastomosis gastric bypass. A gastric tube was created along the lesser curvature. During the attempt to identify the suitable small bowel loop, an unexpected completely malrotated gut was noted. Due to the intraoperative difficulty in identifying the correct loop to anastomose to the gastric tube an intraoperative decision was taken to convert the procedure to a sleeve gastrectomy. The created gastric tube was re-anastamosed to distal stomach, and the redundant stomach was resected. Postoperative recovery was uneventful, and weight loss was satisfactory. Attempted one anastomosis gastric bypass converted to a sleeve gastrectomy was a successful bailout procedure.Item Extensive systemic thrombo-embolism including intra-cardiac thrombosis mimicking an atrial myxoma in a patient with beta thalassaemia major - a case report(BioMed Central, 2023) Welhenge, C.; Ranasinghe, R.; Rajapakse, S.; Premawardhena, A.BACKGROUND: Sepsis and thrombo-embolic disease are well known complications of thalassemia major. Intracardiac thrombi are however rare and can lead to diagnostic dilemmas. CASE PRESENTATION: We report the case of a 20-year-old female splenectomised thalassaemia major patient with severe iron overload, who presented with life threatening sepsis associated with a liver abscess. Discovery of a large oscillating intra cardiac lesion on 2D echocardiogram confrmed by Contrast Enhanced Computed Tomography (CECT) chest in the right atrium extending from the left hepatic vein through the inferior vena cava complicated the clinical course. After a prolonged Intensive Care Unit (ICU) stay supported with antibiotics and anticoagulation, she recovered with evidence of resolution of the intra cardiac thrombus. CONCLUSIONS: Early recognition and prompt aggressive treatment of sepsis in patients with thalassemia is essential to prevent complications. Intracardiac thrombosis is a potentially treatable cause for an intra cardiac mass in patients with thalassemia major, which should not be missed.Item Tender cervical lymphadenitis as a herald of multi-system inflammatory syndrome in COVID-19 infection of children and adolescents: a report of two cases(BioMed Central, London, 2022) Wanninayake, L.; de Abrew, G.; Logeshwaran, D.; Weerasinghe, C.; Gowinna, P.; Mettananda, S.; Premaratna, R.Background: Post-COVID-19 multisystem inflammatory syndrome (MIS) has been increasingly recognized but fever with isolated tender cervical lymphadenitis as the initial presentation has been rarely reported. We present 2 female patients one a child and the other an adolescent. Case presentation: Case 1 was a 13-year-old girl who presented with tender cervical lymphadenopathy and fever 3-weeks post-COVID-19, and then developed features of MIS 5 days later. Case 2, also female, was 18 years old. She had no history of COVID-19 infection or immunization but had a serologic diagnosis of COVID-19. She similarly presented with fever and tender cervical lymphadenopathy, and then progressed rapidly to develop features of MIS. Both patients responded well to treatment with immunosuppressants and intravenous immunoglobulin. Conclusion: Tender cervical lymphadenopathy could be the herald of multi-system inflammatory syndrome following COVID-19 infection among children and adolescents, which the clinicians must have a good suspicion about.Item Sequential occurrence of recurrent Sweet syndrome and erythema nodosum without an underlying secondary cause: a case report(BioMed Central, 2022) Mettananda, C.; Peiris, H.; Uwyse, A.Background: Sweet syndrome is a rare cause of acute fever and painful erythematous skin plaques. Erythema nodosum is acute or chronic tender erythematous skin nodules of bilateral shins. The concurrent presence of both dermatoses is rare but reported in the literature. There are no reported cases of recurrent and sequential Sweet syndrome and erythema nodosum without an underlying secondary cause. Case presentation: We report the case of a 64-year-old Asian woman, who had possible Sweet syndrome 12 years ago and biopsy-proven erythema nodosum 5 years ago, presenting with an acute episode of Sweet syndrome. Extensive investigations did not reveal any underlying secondary cause. Conclusions: Recurrent Sweet syndrome and sequential presence with erythema nodosum raises suspicion if Sweet syndrome and erythema nodosum are diferent presentations of one disease, which warrants further study. This case proves that recurrent Sweet syndrome and erythema nodosum can occur in healthy individuals without an underlying malignancy or secondary causeItem Complex Y chromosome anomalies in an infertile male(Brazilian Society of Assisted Reproduction,, 2020) Kaluarachchi, N.P.; Randunu, M. H.; Jainulabdeen, M.; Thavarajah, A.; Padeniya, P.; Galhena, P.ABSTRACT: Y chromosome anomalies are closely associated with non-obstructive azoospermia (NOA), a major etiology in male infertility. Klinefelter syndrome (KS) and Y chromosome microdeletions are some of the well-identified genetic defects in this regard, while Y chromosome aneuploidies have been reported to be susceptive. We report the rare case of a patient presenting with three complex genetic defects: mosaic Y chromosome aneuploidy; loss of the heterochromatin region in the q arm of the Y chromosome (Yqh-); and azoospermia factor C subregion (AZFc) microdeletion. The patient reported he had been subfertile for five years. Semen analysis confirmed total azoospermia along with an unaffected hormonal profile for serum follicle stimulating hormone (FSH), luteinizing hormone (LH), and prolactin levels. Since the microdeletion analysis of azoospermia factor (AZF) region revealed the presence of three microdeletions in the AZFc region, the patient was offered intracytoplasmic sperm injection (ICSI) upon the retrieval of sperm by testicular sperm extraction (TESE) as the best possible assisted reproductive treatment (ART) option. It was further suggested to carry out pre-implantation genetic screening (PGS) in order to facilitate the transfer of only female embryos, thus preventing the dissemination of Y chromosomal anomalies. KEYWORDS: AZF microdeletion; Y chromosome anomalies; azoospermia; male infertility.