Heshan Jayaweera

• MBBS DCH MD FRCPCH
• Professor at University of Peradeniya

Background Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to...

INTRODUCTION Hereditary nephrogenic diabetes insipidus (HNDI) is rare. It may be inherited as an autosomal recessive, autosomal dominant or commonly, x-lined recessive manner. The incidence is 4 in 100,000 males. AVRP2 and AQP2 genes are involved. Untreated infants present with poor weight gain, dehydration and polyuria. CASE REPORT A 2-month-old...

Background. Neonatal oral aphthous ulceration of the palate also known as Bednar’s aphthae is not an uncommon presentation. They clinically present as spontaneously regressing, shallow, and symmetrical ulcers on the posterior palate of newborns from 2 days up to 6 weeks of age. Case Presentation. We, herein, report a case of a one-month-old baby gi...

Background: Rosai- Dorfman Disease (RDD) is a benign condition of unknown aetiology which is characterized by non-neoplastic proliferation of histiocytes. Pathophysiology and natural history remain obscure due to the low prevalence of disease. It is known to present with nodal or extranodal involvement and occurrence in the genitourinary system co...

Gallbladder perforation secondary to enteric fever is a rare complication in children and precise diagnosis is essential to decide on the management. Preoperative diagnosis of gallbladder perforation is demanding and most of the cases are diagnosed intra-operatively. We report a case of gallbladder perforation due to enteric fever in an eight-year-...

Introduction Chronic Kidney Disease of Unknown Origin (CKDU) is currently a leading cause of disease burden in the farming populations of the central province of Sri Lanka. This study was a part of a larger screening programme for CKDu aimed at children living in CKDu-endemic Ginnoruwa. Objective To ascertain if there were variations in height in...

Over 80% cases of nephrotic syndrome (NS) in children are due to minimal change disease and most respond to steroid therapy1. Steroid sensitive NS rarely progresses to end stage renal failure, over 80% entering spontaneous long term remission in later childhood2. In contrast, steroid resistant and refractory NS have an unfavourable outcome often pr...

Background: No consensus exists concerning dose and route of administration of cyclophosphamide (CYC) in steroid-dependant nephrotic syndrome (SDNS). Objective: To compare the outcome of children with SDNS treated with either intravenous (IV) or oral CYC in a single centre in Sri Lanka by reviewing data from 2002 to 2011. Method: One hundred and tw...

Background: Childhood nephrotic syndrome (NS) has a relapsing-remitting course resulting in a significant corticosteroid burden or a prescription of cytotoxic immunosuppressive therapy. The ideal steroid regimen for the initial episode remains elusive. Objective: This study was conducted at a single centre to assess the outcome of a longer regimen...

Background: Levamisole (LEV) has been successfully used to maintain remission in steroid dependent nephrotic syndrome (SDNS). When compared to LEV, the costs of other immunosuppressive agents are more than tenfold. There is no uniform agreement on the duration of therapy and most authorities recommend 12 months of LEV. Objective: To assess the effi...

Steroid-resistant nephrotic syndrome (SRNS) poses a therapeutic challenge for the paediatric nephrologist. As relentless progression to renal failure occurs with continued proteinuria, such patients will be treated with different cytotoxic medications with variable success rates and side-effects. We present here our findings on administering the an...

Objective: Levamisole (LEV) has been used successfully on an alternate-day regime of 2.5 mg/kg in steroid-dependant nephrotic syndrome (SDNS) to maintain remission. This pilot study was carried out between 2010 and 2015 at a single center in Sri Lanka to evaluate the efficacy of LEV prescribed at 2.5 mg/kg daily, which is double the alternate-day...

Background: No consensus exists concerning dose and route of administration of cyclophosphamide (CYC) in steroid-dependant nephrotic syndrome (SDNS).

Background Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely cha...

Infants and children are considered more vulnerable to poor nutrition when compared to adults. Many factors in varying proportions contribute to this during childhood and adolescence. Poor stores of fat and protein, extra nutritional demands for growth, reduced intake and increased demand during illness are probably the most important of these. Ens...

Background - Screening for retinopathy of prematurity(ROP) is based on gestational age and birth weight. Constant revision of screening guidelines resulted in birth weight cut-off being brought down in some western centres. However, countries with less advanced neonatal care reported that more mature, bigger babies still had significant ROP. Objec...

Objective: To analyse the effectiveness and safety of cyclosporin A (CsA) in the treatment of steroid dependent nephrotic syndrome (SDNS) in childhood. Design: Prospective descriptive study Setting: Nephrotic Syndrome Clinic, Teaching Hospital Peradeniya, Sri Lanka Method: Children with SDNS who had normal renal function, relapsed while receiving o...

CMV is a DNA virus and a member of the herpesviridae family.‘CMV inclusion disease’or congenital CMV infection is caused by vertical transmission of human cytomegalovirus from mother to infant. This could occur transplacentally, or during the perinatal period via cervico-vaginal secretions or breast milk. While ninety percent of the infected remain...

Hyper-IgE syndrome, a multi-system disorder affecting dentition, skeletal and immune systems and connective tissues, presents with recurrent infections and dermatitis. We report here the first case in Sri Lanka.