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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty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
6 results
Search Results
Item Internal biliary diversion for medically refractory pruritus in a child with Alagille syndrome: a novel alternative for liver transplantation(Sri Lanka College of Paediatricians, 2024-12) Tillakaratne, S.; Fernando, M.; Batepola, T.; Gunetilleke, B.; Appuhamy, C.; Weerasuriya, A.; Siriwardana, R.No abstract availableItem Wilson disease presenting as acute haemolytic anaemia in a Sri Lankan child(Sri Lanka College of Paediatricians, 2022) Chandrakumara, J.; Rathnayake, C.; Muthukumarana, O.; Amarakoon, G.; Fernando, M.No abstract availableItem First paediatric live donor liver transplant in Sri Lanka with 1 year outcome : challenges for the future(The College of Surgeons of Sri Lanka, 2021) Siriwardana, R.; Thilakarathne, S.; Fernando, M.; Gunetilleke, M.B.; Weerasooriya, A.; Appuhamy, C.INTRODUCTION: Liver transplantation in the paediatric age group is demanding due to smaller body proportions and physiology. This paper describes the first successful paediatric liver transplant in Sri Lanka along with its one-year outcome. Describing the challenges faced during the process, we highlight the factors that need to be considered for a sustainable programme in the future. METHODOLOGY: A 9-year-old girl who had progressive familial intra hepatic cholestasis type 3 was referred to us with features of end stage liver disease. She was identified as a suitable candidate for liver transplantation. Her 38-year-old mother was selected as the donor, who was evaluated for suitability of a left lateral segment donation. RESULTS: The first paediatric liver transplantation was performed in July 2020. The child's mother donated the left lateral segment weighing 325g. During the postoperative period the child developed outflow tract obstruction at the hepatic venous anastomosis. This was managed with a percutaneously placed stent. Six months after transplant, she developed an acute rejection that required steroids. Treatment of rejection was complicated with multiple liver abscesses caused byAspergillus. The infection was treated with systemic antifungals and drainage. At one-year post transplant, the recipient had recovered from the trauma of surgery and had normal liver biochemistry, a patent hepatic venous stented anastomosis and complete resolution of the abscesses. We faced dual challenges in dealing with a live liver transplant donor and a young child who was the recipient. Our success, on this occasion, was underscored by the multidisciplinary contribution from specialists scattered across the island combined with state-public partnership. CONCLUSION: To offer a sustainable live donor liver transplant service for the future, many other aspects, beyond surgery itself, need to be addressed.Item Wilson's disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a child: A case report with lessons learned!(Jaypee Brothers Medical Publishers, Mumbai, 2021) Fernando, M.; Vijay, S.; Santra, S.; Preece, M.A.; Brown, R.; Rodrigues, A.; Gupte, G.L.Background: Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We report on a child who succumbed to death due to liver disease caused by both disorders, documenting their disease-causing mutations and highlighting the lessons learnt out of this case. Case description: A child who was diagnosed to have WD soon after birth due to known parental heterozygosity was later found to have developmental delay, seizures, and hyperammonemia. Subsequent evaluation confirmed hyperornithinemia-hyperammonamia-homocitrullinuria (HHH) syndrome as a comorbidity. Though this child was commenced on medical treatment for both the metabolic diseases since early life, his liver disease was rapidly progressive requiring a liver transplant (LTx) at 6-years. He died in the posttransplant period possibly due to sepsis and hidden metabolic consequences. Conclusion: This case highlights that co-occurrence of WD and HHH syndrome would cause progressive liver disease despite medical treatment. Hence, the close clinical follow-up and early LTx would be warranted.Item Spondylocostal Dysplasia in a 7-year-old Sri Lankan girl causing restrictive lung disease: A case report and review of the literature(Hindawi Pub. Corp., 2020) Kamalanathan, P.; Fernando, M.; Jayawardena, R.; Upasena, A.; Rajindrajith, S.; Mettananda, S.ABSTRACT: Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. We report a 7-year-old Sri Lankan girl with spondylocostal dysplasia presenting with short stature and scoliosis. Disproportionate short stature was noted with short upper segment and small thoracic cavity. Skeletal survey revealed fused vertebra involving T5-T6, T9-T10, and L3-L4. Butterfly vertebrae were noted in T2, T4, T6, and T9. Diagnosis of SCD was made based on classic radiological features including vertebral fusion and rib abnormalities. Spirometry was performed due to small thoracic cavity which showed results compatible with moderate to severe restrictive lung disease. The child did not report respiratory difficulties or recurrent chest infections up to the presentation. She was referred to an orthopaedic team which recommended conservative management with close follow-up. In conclusion, spondylocostal dysplasia should be considered in short-trunk short stature with rib abnormalities in the absence of limb shortening. Appropriate treatment and follow-up for restrictive lung disease would determine the long-term outcome.Item A Case of dapsone-Induced severe agranulocytosis causing life-threatening skin Sepsis in a Sri Lankan child with borderline Leprosy: A success story!(Hindawi Pub. Corp, 2019) Fernando, M.; Kankananarachchi, I.; Navabalasooriyar, P.; Herath, B.; Punchihewa, P.Leprosy is a common skin disease in Sri Lanka which is being increasingly diagnosed due to the existing successful public health programme. Dapsone is a drug which holds unique pharmacological properties where it serves as both anti-inflammatory and antimicrobial agents. Of its main adverse effects, agranulocytosis is a serious consequence which is reported mainly in adults and elderly. We report a 7-year-old child who sustained life-threatening skin and subcutaneous tissue sepsis because of dapsone-induced agranulocytosis. Besides, this case highlights the importance of meticulous monitoring of cell counts due to the risk of neutropenia and the natural history of cell recovery following occurrence of neutropenia. Though high mortality rate has been described in most of the similar cases reported, the child we describe made a complete recovery following severe neutropenic sepsis.