Browsing by Author "Senarathne, U."

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A case report on inconsistent postmortem thyroid functions between femoral blood and vitreous fluid biochemistry
(Walter de Gruyter, 2021) Senarathne, U.; Dias, V.; Kularathne, S.; Halangoda, S.; Jayasekara, V.D.; Kitulwatte, I.; Wijewardene, H.; Dayanath, B.
BACKGROUND-AIM : Postmortem biochemistry can provide important information in determining the cause of death (COD). Out of postmortem specimens, vitreous fluid is ideal for postmortem biochemical analysis, as it is relatively isolated and less affected by postmortem changes (redistribution, hemoconcentration). However, equilibration of some analytes between blood and vitreous fluid can be affected by its anatomical location, as observed in this case, where postmortem femoral blood and vitreous fluid thyroid functions were used to conjecture premortem thyroid status of the patient in the absence of premortem values. METHODS: The postmortem specimens of femoral blood and vitreous fluid were obtained during the autopsy and analysed for thyroid hormones in the absence of premortem thyroid hormone values. RESULTS: A 28-year-old pregnant woman admitted at 26-weeks of gestation due to tachypnea and palpitations for 3-days. She had tachycardia (200bpm), with supraventricular-tachycardia on electrocardiogram, and poor left-ventricular function on echocardiography. She underwent an emergency hysterotomy to terminate her pregnancy but suffered a sudden death 6-hours after surgery. During the postmortem to ascertain her COD, vitreous biochemistry revealed a hyperthyroid picture with suppressed TSH and elevated free-T3 [TSH: 0.108mIU/L(0.465-4.68), free-T4: 13.22pmol/ L(10-28.2), free-T3: 12.74pmol/L(4.26-8.1)], while femoral blood had a euthyroid picture [TSH: 1.32mIU/L, free-T4: 13.3pmol/L, free-T3: 4.54pmol/L]. Postmortem thyroid histology showed detached follicular-epithelial-cells (autolytic changes), excluding autoimmune thyroiditis causing hyperthyroidism thus supraventricular-tachycardia as the COD. Her COD was confirmed as acute on chronic myocarditis by postmortem cardiac histology. CONCLUSIONS Based on the clinical presentation, hyperthyroidism was a differential diagnosis in this case leading to postmortem thyroid investigations. T3-toxicosis on vitreous biochemistry was confounding with detached follicular-epithelial-cells mimicking lymphocytes, misleading towards autoimmune thyroiditis. Differences in thyroid hormone transportation between compartments explain the inconsistency of thyroid status between femoral blood and vitreous fluid. This case highlights the need to interpret postmortem biochemistry cautiously and arrive at conclusions with a holistic approach. Due to the lack of literature on the correlation of postmortem to premortem biochemistry, the postmortem specimen type best representative of premortem thyroid function requires further research.
The establishment of a population-specific reference value for the ruler drop test for the clinical assessment of reaction time
(Elsevier, 2023) Rajapaksha, S.; Kitulwatte, I.; Senarathne, U.; Edirisinghe, A.; Perera, P.
BACKGROUND: Reaction time (RT) is the interval between a stimulus and an appropriate voluntary response in an individual. Alcohol is known to result in delayed RT. In Sri Lanka, an alleged drunken driver is legally subjected to a medico-legal examination to confirm or exclude impairment. The guideline for examining a drunk person in Sri Lanka includes the ruler drop test (RDT) as a test of RT. RDT is a simple test of visual reaction time in which the subject attempts to stop a falling ruler, and the height fallen is used to determine the time taken to react to the event. However, a formal study has yet to be carried out to establish population-specific reference values to interpret RDT results. METHODS: A cross-sectional descriptive study was conducted using 903 adults ≥18 years. A nonparametric approach was applied for deriving the reference values based on an inter-percentile interval. RESULTS: The study population consisted of 56.6% females, and the mean age of the participants was 41.6 years. Most (95%) of the study population could catch the ruler at or less than 40.0 cm of average height. The average height on RDT increased from younger to older age groups. However, subgrouping based on other variables, including sex, age, and alcohol consumption, did not show any statistically significant difference. CONCLUSIONS: The population-specific cut-off limit to identify alcohol intoxication by RDT in a Sri Lankan adult is 'average height' >40 cm.
A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
(BioMed Central,, 2021) Rathnasiri, A.; Senarathne, U.; Arunath, V.; Hoole, T.; Kumarasiri, I.; Muthukumarana, O.; Jasinge, E.; Mettananda, S.
Background: Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location. Case presentation: A Sri Lankan boy with developmental delay and failure to thrive first presented at three years of age with hypovolaemia, hyperpigmentation and drowsiness. Investigations done at that time revealed hypoglycaemia, hyponatraemia, hyperkalaemia, low cortisol, low aldosterone, high ACTH and low 17-hydroxyprogesterone. He was diagnosed to have primary adrenal insufficiency. During follow-up at five years, he was noted to have progressive difficulty in walking, waddling gait, hypotonia, calf hypertrophy and positive Gower’s sign. His creatine kinase was very high, and the electromyogram showed myopathy. Genetic analysis revealed hemizygous deletion involving the final 35 exons of the dystrophin gene confirming the diagnosis of Duchenne muscular dystrophy. Further investigations revealed pseudohypertriglyceridemia, large glycerol peak on urine organic acid analysis and hemizygous deletion of the glycerol kinase gene confirming glycerol kinase deficiency. Based on the presence of Duchenne muscular dystrophy, glycerol kinase deficiency and probable congenital adrenal hypoplasia along with genetic confirmation of deletions involving dystrophin and glycerol kinase genes, the diagnosis of Xp21 contiguous gene deletion syndrome was made.Conclusions: We report a child with contiguous gene deletion syndrome who was initially diagnosed as having isolated primary adrenal insufficiency probably due to congenital adrenal hypoplasia. Later he was confirmed to have Duchenne muscular dystrophy and glycerol kinase deficiency, as well. This case report highlights the importance of pre-emptive evaluation and identification of genetic defects when patients present with seemingly unrelated diseases that could aid in accurate diagnoses of contiguous gene deletion syndromes.