Browsing by Author "Kumarasiri, I.M."

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Acute on chronic osteomyelitis due to coliforms in a Sri Lankan child with homozygous sickle cell disease
(Sri Lanka College of Paediatricians, 2021) Hoole, T.J.; Arunath, V.; de Silva, M.H.A.D.; Muthukumarana, O.G.W.; Kumarasiri, I.M.; Rathnasiri, G.B.A.M.R.; Mahendra, G.; Premawardhena, A.; Mettananda, S.
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A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report
(BioMed Central, 2021) Arunath, V.; Hoole, T. J.; Rathnasri, A.; Muthukumarana, O.; Kumarasiri, I.M.; Liyanage, N.D.; Costa, Y.; Mettananda, S.
BACKGROUND: Imerslund-Gräsbeck syndrome is a rare genetic disease characterised by vitamin B12 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. However, his transfusion requirement increased over the past three months and he gradually lost his motor developmental milestones during two weeks before admission. The neurological examination revealed generalised hypotonia, exaggerated knee jerks and extensor plantar response. His complete blood count showed pancytopenia, and bone marrow biopsy revealed megaloblastic changes. Serum vitamin B12 and red blood cell folate levels were low. MRI revealed sub-acute combined degeneration of the spinal cord with characteristic 'inverted V sign'. Urine analysis showed non-nephrotic range proteinuria. The diagnosis of Imerslund-Gräsbeck syndrome was made due to the presence of non-nutritional vitamin B12 deficiency and asymptomatic proteinuria. He showed a rapid haematological and neurological improvement to intramuscular hydroxocobalamin. CONCLUSIONS: This case report presents a rare occurrence of severe vitamin B12 deficiency due to Imerslund-Gräsbeck syndrome masked by co-existent α-thalassaemia, resulting in serious consequences. It highlights the need for a high index of suspicion in evaluating children with severe anaemia, especially in the presence of mixed pathologies. KEYWORDS: Anaemia; Hypopigmented hair; Imerslund-Gräsbeck syndrome; Inverted V sign; Megaloblastic changes; Subacute combined degeneration of the spinal cord; Thalassaemia; Vitamin B12.
Hypertension,hyperkalaemia and metabolic acidosis and low serum renin activity: a case report on psuedohypoaldosteronism type 2 in a six-year-old child
(College of Chemical Pathologists of Sri Lanka, 2024) Fernando, K.; Lankapriya, K.R.; Kumarasiri, I.M.; Wijesuriya, H.T.S.K.; Seneviratne, S.N.
INTRODUCTION Pseudohypoaldosteronism type 2 (PHA II), also known as Gordon syndrome or familial hyperkalaemia and hypertension syndrome, is a rare cause of monogenic low renin hypertension.Its clinical profile commonly includes hyperkalaemia, metabolic acidosis, diminished serum renin and normal aldosterone levels. It typically follows an autosomal dominant inheritance pattern, involving mutations in WNK1, WNK4, KLHL3, and CUL3 genes. Timely detection and management are crucial as these children are prone to complications arising from hypertension and hyperkalaemia.Here, we present a case where biochemical investigations played a pivotal role in arriving at the final diagnosis of PHAII.CASE PRESENTATION Apparently well 6 years and 2 months old girl presented with bilateral frontal headache persisting for three months. Upon examination, her blood pressure consistently exceeded the 99th percentile for age. Laboratory investigations revealed hyperkalaemia, mild hyperchloridemia and low-normal calcium level and metabolic acidosis, in the background of normal renal functions which raised suspicion on PHA II. Her plasma aldosterone concentration was markedly low, while plasma direct renin concentration fell within the low-normal range.Observation of low plasma renin activity provided further evidence of PHA II.Treatment with age-appropriate doses of thiazide diuretics was given in combination with prazosin.The normalization of blood pressure and serum potassium levels following treatment further supported the diagnosis.DISCUSSION AND CONCLUSIONS Patients with PHA II typically exhibit hyperkalaemia and metabolic acidosis (resembling renal tubular acidosis type IV), in the background of normal renal functions.Further they may present with mild hyperchloremia and hypocalcaemia, as observed in our case.In settings where genetic testing resources are limited, the combination of hyperkalaemia, metabolic acidosis, and low serum renin activity serves as a reliable diagnostic hallmark for PHA II.