Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection.

Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL. Clinical examination revealed hepatosplenomegaly. Genetic analysis showed that the patient was a compound heterozygote for two rare likely pathogenic LPL variants c.808C>G p.(Arg270Gly) and c.1019-3C>G. She was commenced on a low-fat diet with the addition of medium chain triglyceride formula. At follow-up, her serum triglyceride level was normal.

A report of haploidentical allogeneic haematopoietic stem cell transplantation for inherited bone marrow failure in Sri Lanka.

Abstract: Bone marrow failure (BMF) in children can be idiopathic (70-80%) or inherited. Haematopoietic stem cell transplantation (HSCT) is the only cure for both causes. Allogeneic HSCT requires a suitable donor. Many children will not have a HLA matched sibling or unrelated donor. A haploidentical donor is available for all children as eaazch parent will have at minimum a 50% HLA match. This report of a 7-year old girl with BMF treated with a haplo-HSCT, the first in Sri Lanka, highlights the importance of developing a haploidentical HSCT programme as a potential cure for a disease with a dismal outcome.

A nationwide survey of hospital-based thalassemia patients and standards of care and a preliminary assessment of the national prevention program in Sri Lanka.

OBJECTIVES: Our aim was to describe the numbers and distribution of patients with different types of thalassemia and to assess the standards of care in all thalassemia treatment centers throughout Sri Lanka and the success of the ongoing prevention programme. METHODS: This cross-sectional island-wide survey was conducted by two trained medical graduates, who visited each thalassemia center to collect data from every patient, using a standardized form. Data was collected through review of patient registers and clinical records. RESULTS: We collected data on 1774 patients from 23 centers. 1219 patients (68.7%) had homozygous ß-thalassemia, 360 patients (20.3%) had hemoglobin E ß-thalassemia, and 50 patients (2%) had sickle ß-thalassemia. There were unacceptably high serum ferritin levels in almost all centers. The annual number of births of patients with ß-thalassaemia varied between 45-55, with little evidence of reduction over 19 years. CONCLUSIONS: Central coordination of the treatment and ultimately prevention of thalassemia is urgently needed in Sri Lanka. Development of expert centers with designated staff with sufficient resources will improve the quality of care and is preferred to managing patients in multiple small units.

Toxoplasma, toxocara and tuberculosis co-infection in a four year old child.

BACKGROUND: Tuberculosis. toxocariasis and toxoplasmosis are among the common infectious causes of lymphadenitis in children. Cases of Toxoplasma gondii and Toxocara spp co-infection have been reported. CASE PRESENTATION: This case report describes a co-infection of Toxoplasma gondii, Toxocara spp and tuberculosis in a child with chronic lymphadenopathy and eosinophilia. CONCLUSION: The case report highlights two important points. First is the diagnostic challenges that are encountered by clinicians in tropical countries such as Sri Lanka, where lymphadenopathy and eosinophilia with a positive serology commonly point towards a parasitic infection. Secondly the importance of proper history taking and performing the Mantoux test as a first line investigation in a country where the incidence of tuberculosis is low, even in the absence of a positive contact history.