Neonatal diabetes mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first six months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. The aim was to describe the clinical presentation, molecular genetics and outcome of patients with NDM from a single paediatric endocrine center from a low-middle income country, Sri Lanka.
View Article and Find Full Text PDFBackground: Kawasaki disease (KD) is a medium and small vessel vasculitis which usually has a good response to immunoglobulin therapy (IVIG). We present a case of incomplete KD with IVIG resistance associated with an unusual combination of vesicular guttate-psoriasiform rash, hypertension and late onset small joint arthritis.
Case Presentation: A four-month-old male infant from Sri Lanka presented with high fever, conjunctival redness, pedal oedema and skin rash.
Background: Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B deficiency and proteinuria.
Case Presentation: A 4-year old Sri Lankan boy presented with gradually worsening difficulty in walking for two weeks duration. He was previously diagnosed and managed as having non-transfusion-dependent α-thalassaemia based on the presence of hypochromic microcytic anaemia, haemoglobin H inclusion bodies in the blood film and compound heterozygous α-thalassaemia genotype with a gene deletion.
Henoch-Schönlein purpura is a small vessel vasculitis that usually presents with palpable purpura, arthritis, abdominal pain, and nephritis. Subcutaneous oedema of dependent areas is common; however, oedema in the scalp is extremely rare especially in children older than two years. Here, we report a child with massive disfiguring scalp and facial oedema due to Henoch-Schönlein purpura.
View Article and Find Full Text PDFCardiac complications following envenomation by Russell's viper venom are uncommon. We describe a 14-year-old girl who developed delayed-onset sinus node dysfunction. She presented with mucosal bleeding, ptosis, and muscle weakness.
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