Sri Lankan Sinhalese Research Articles

The inclination of the Sri Lankan Sinhalese Village Community Towards Hela Medicine and Traditional Food and Drinks During the Post-COVID Pandemic Period

The ancient village society lived with a focus on local Hela medicine and traditional food and drinks. The current village society is a group of people who live collectively while maintaining their ancient identity claiming a self-sufficient lifestyle. Against this background, the objective is to study the past situation and the modern nature and the impact of the COVID-19 epidemic on it. Relevant information was obtained by using the data obtained through interviews with 58 rural households in Alagalla village belonging to Hatharaliyadda Divisional Secretariat Division and from the records of the village officer and the records of the local medical hall. According to these data, it was revealed that there is a wide knowledge and use of the traditional hand medicine of the past villagers in the sample of 10 people over 60 years old. But in the later period, it is possible to identify the distance from this due to leaning towards the Western medicine system, focusing on fast food, and not paying much attention to local medicines. With the after-effects of the Corona epidemic and people's attention being focused on local medicines and food and drinks, the focus was again on this. This is 100% according to the data. The temptation to grow local foods of the past can be identified. It is 80 days according to the data. Among those crops, turmeric, figs, dandila, milk yam, cassava, herbs, and vegetables are the main ones. In the post-COVID pandemic period, trust in local food and Hela medicine has been gained due to Western doctors advising on the use of local herbs, rural people turning to Hela medicine due to the side effects of vaccinations, and increased media awareness. Among the local medicines, the use of a decoction of katupila, Nelli, Aralu, Bulu, Rasakinda, Honey, Nika, Tumba, etc. can be mentioned. Based on this background, introducing Hela medicine as a successful treatment method in the post-Corona period and improving local medicine are the main tasks to be done here. It is correct to say that there is a timely need to discuss the preservation of this valuable wealth of knowledge in Hela medicine as an intangible cultural heritage and its use in current practices. The study revealed that in the wake of the post-COVID epidemic, there is a renewed understanding of Hela medicine and local food and drinks among the rural people.

Locating the community in a study on immigrant context: The case of Sri Lankan Sinhalese immigrants in Australia

Capturing the sense of community in an immigrant context is an arduous task, as it is visually absent, yet ideologically present. Consequently, it is represented in text as absence presence and its meaning is concealed unless the focus is community. Thus, the researcher’s challenge is not only collecting data but also reflecting and writing upon that data. In other words, it is about constructing our analysis, in terms of locating, experiencing, and narrating the meaning of ‘community’ in an anthropological pursuit. Based on two years of fieldwork with Sri Lankan Sinhalese transnational immigrants in Darwin Australia, the paper argues that the sense of community is an experiential entity for the researcher and informants. Also, it is imagined and fragmented yet subject to reproduction.

Acute hemorrhagic leukoencephalitis in a young female with excellent response to corticosteroids

Background: Acute hemorrhagic leukoencephalitis (AHLE) is a rare fulminant entity of acute disseminated leukoencephalitis (ADEM) that has a rapidly progressive polysymptomatology corresponding to areas of brain affected. It’s characterized by rapid cognitive decline, coma or even rapid death. It is postulated to be a post infective immune mediated monophasic demyelinating disease. Diagnosis is clinical supported by CSF and MRI findings. It is challenging to differentiate the disease from MDEM (multiphasic demyelinating encephalomyelitis) and multiple sclerosis during the initial presentation.Case presentation: Here we report a case of a 36-yearold Sri Lankan Sinhalese lady who presented with seizure following febrile illness followed by gross right sided hemiparesis later progressing to mutism and cognitive decline. Her CSF showed pleocytosis 12/cumm with 5% polymorphs, red cells, mildly high proteins with normal glucose and positive oligoclonal bands. MRI showed evidence of multiple focal supra and infratentorial signal abnormalities and gyral thickening with hemorrhages, largest lesions being in left frontal region with mass effect but no herniation. She was diagnosed with AHLE and treated with high dose IV methyl prednisolone later converting to oral prednisolone tapering regime. She was continued on intravenous cefotaxime and acyclovir as per meningoencephalitis. Improvement with steroids was dramatic with complete neurological recovery, minimal sequel and no recurrences at 6 months follow up.Conclusion: The case is a representation of a very rare entity of an infrequently reported disease which needs high degree of clinical suspicion with early imaging for aggressive and early immunosuppressive treatment that may hinder progression to commonly described sequel including coma, death or residual neurology. The predictions on future MDEM or MS on first presentation and overlap are areas that need further exploration.

Social Processes that Shaped Sinhala Folk Music and its Characteristics Based on the Purposes of Usage

Folk music is the music of the people. People have used folk songs to express different emotions. This research paper argues that the social processes that have shaped Sinhala folk music are multifaceted and have significant cultural and historical implications. By exploring the different categories of Sinhala folk music and their purposes of usage, this study aims to fill the research gap in understanding the characteristics and functions of this musical tradition, highlighting its role in preserving the cultural heritage of the Sinhalese people. Brief explanations of why these songs were used, including how lyrical characteristics and meanings are applied for grouping and naming, are included. Literature on Sri Lankan Sinhala Folk Music that has been published over the years in journals, books, research reports, web articles, and other materials was analysed using qualitative content analysis. It was found that people sing these songs mainly to express their feelings and emotions in addition to a range of other purposes such as communication, passing the time, motivating people, and entertainment. The existing classifications are made mainly considering activities or work-related aspects and meanings of lyrics demonstrating that they are influenced by social interactions. The authors suggest several methods to conserve Sri Lankan Sinhalese traditional music elaborating on the importance of ensuring such preservations.

Sexual dimorphism in permanent mandibular and maxillary canines of Sri Lankan Sinhalese population

Introduction: Sexual dimorphism is one of the most important implications in forensic investigations and anthropological studies. Teeth are becoming a good source of material for gender determination. The canine is the most preferred tooth for gender determination because the canine is the strongest tooth in the oral cavity. Objectives: To investigate sexual dimorphism in permanent mandibular and maxillary canines of a Sri Lankan Sinhalese population, and to ascertain the most suitable dimension (labiolingual, mesiodistal and crown height) to determine the sex of an individual. Materials & Methods : The study was conducted using 384 dental casts (Males 192, Females 192) aged between 18 and 25 years in a sample of the Sri Lankan population. According to a selection criterion, casts were selected using a convenient random sampling technique. Mesio-distal, Bucco-lingual and Crown height of all the canines in the casts were measured using a digital vernier caliper accurate to 0.01 mm. Results : Statistical analysis was performed using Minitab 17 and SPSS (Version 21). Unpaired sample t-test, paired sample t-test and point-biserial correlation were used for data analysis. The present study revealed that males show larger mean dimensions of canine teeth than females. Out of all four canines, mandibular canines show highly consistent results for sexual dimorphism. Further, crown height is the best measurement to evaluate sexual dimorphism. Conclusion : It can be concluded that out of all the four canines, mandibular canines show highly consistent results for sexual dimorphism. Moreover, crown height is the best measurement to evaluate sexual dimorphism, in identifying an unknown .

Strongyloidiasis infection in a borderline lepromatous leprosy patient with adrenocorticoid insufficiency undergoing corticosteroid treatment: a case report

Strongyloidiasis is a soil-transmitted helminthiasis mainly caused by Strongyloides stercoralis. It is endemic to the tropics and subtropics. Sri Lanka has a 0-1.6% prevalence rate. S. stercoralis infection was identified in a 33-year-old Sri Lankan male patient treated with corticosteroids for borderline lepromatous leprosy with adrenocortical dysfunction. In March 2020, a 33-year-old Sri Lankan (Sinhalese) male patient presented with watery diarrhea, lower abdominal pain, and post-prandial abdominal fullness. Previously, he was diagnosed with borderline lepromatous leprosy and was treated with rifampicin, clofazimine, and prednisolone 60mg daily since July 2019. After developing gastrointestinal symptoms, he had defaulted leprosy treatment including the prednisolone for 3months. Duodenal biopsy revealed numerous intraepithelial nematodes within the lumina of glands in the duodenum whose appearance favored Strongyloides. Fecal wet smear revealed numerous Strongyloidisstercoralis L1 rhabditiform larvae. Larval tracks were seen in the agar plate culture. L3 filariform larvae of Strongyloidis stercoralis were seen in the Harada-Mori culture. In addition, the short synacthen test revealed adrenocortical insufficiency, and oral hydrocortisone and fludrocortisone were started with albendazole treatment against strongyloidiasis. Fecal wet smear and culture repeated after treatment with albendazole were negative for Strongyloidisstercoralis. The patient was discharged in July 2020 on oral hydrocortisone. Onemonth later his condition was reviewed and the repeated fecal wet smear and agar plate culture was normal. He is being followed up every 3months. This is the first case of strongyloidiasis diagnosed in a patient with borderline lepromatous leprosy from Sri Lanka. The patient manifested symptoms of strongyloidiasis while on high-dose steroid therapy for his lepromatous reaction. Subsequently, the patient not only discontinued his steroid therapy, but also developed adrenocortical insufficiency as a complication of leprosy. Therefore, although diagnosis of strongyloidiasis was delayed, his subsequent low steroid levels probably protected him from disseminated disease. This is an interesting case where symptomatic strongyloidiasis was diagnosed in a patient who was initially treated with high-dose steroids but subsequently developed adrenocortical insufficiency. We emphasize the need to screen all patients prior to the commencement of immunosuppressive therapy.

Linkage, recombination and mutation rate analyses of 16 X-chromosomal STR loci in Sri Lankan Sinhalese pedigrees.

This study investigated genetic linkage, recombination fractions and mutation rates of 16 X chromosomal short tandem repeat (X-STR) markers using a recently developed multiplex PCR assay for Sinhalese population of Sri Lanka, by analyzing 81 three-generation families including 81 grandfathers with daughters and 162 grandsons. In addition, 31 two generation families involving mother father daughter trios were included for mutation analysis. The analysis of recombination fractions between marker pairs identified two linkage blocks (maximum LOD scores > 3.0) each spanning a physical distance of 44.35Mb and 6.04Mb respectively. Though recombination events are usually rare among closely linked markers, crossovers were observed for markers located < 1.0Mb apart. The recombination fractions observed are not fully concordant with those reported earlier, including the second-generation Rutgers combined linkage-physical map. This suggests that linkage is not uniform among different populations. However, the overall and marker-specific mutation rates of the present study did not differ from previous reports, though it needs confirmation with a much larger sample set. The findings presented here will provide the baseline information required for biostatistical calculations conducted using X-STR markers, in complex kinship analysis of Sinhalese population.

Situation Analysis of Nation Building Efforts in Sri Lanka: From Early Years of Independence to Contemporary Days

Despite the smooth transition of power from the British colonists to the Sri Lankan Sinhalese in 1949, Sri Lanka inherited considerable challenges. There has been conflict between the Sinhalese and the Tamils post-independence which led to a long and brutal civil war from 1983 to 2009. After the culmination of the civil war, Sri Lanka confronted numerous obstacles in the reconstruction and rehabilitation of the country. Drawing from Birch’s model of national integration, this study attempts to examine the diverse political, economic, and social challenges facing Sri Lanka. The review shows that Sri Lanka needs critical nation building in the following areas: (i) Infrastructural development, (ii) Resettlements and rehabilitation of displaced populations (iii) Ethnic and religious integration, (iv) Equality in political representation, (v) Educational and employment policies, (vi) Gender equality policies, and (vii) mental health interventions for children and women. The role of international bodies, like the United Nations Human Rights Council, and neighboring countries is key to creating pressure for national integration and growth. There is fear that if national unity is not at the forefront of state and international policy for Sri Lanka, conflict and instability may arise again.

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

BackgroundErythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in which homozygotes and compound heterozygotes are common. Over 200 mutations have been described in patients with pyruvate kinase deficiency. This case report identifies a new pathogenic variant in PKLR gene detected in a patient with severe pyruvate kinase deficiency.Case presentationA Sri Lankan Sinhalese girl who developed neonatal anemia and jaundice within 24 hours of birth with mild hepatomegaly. She was from a nonconsanguineous marriage and had two siblings who had no hematological disorders. She had repeated admissions due to similar illnesses and at the age of 8 years was found to have pyruvate kinase deficiency associated with a novel homozygous pathogenic variant c.507+1delG in the PKLR gene.ConclusionsA novel genetic variant in PKLR gene, consistent with pyruvate kinase deficiency, was detected in a Sri Lankan girl. This genetic variant may be specific to the Asian population and requires further studies.

Transnational Sri Lankan Sinhalese family language policy: Challenges and contradictions at play in two families in the U.S.

AbstractThis study examines how the transnational lives of two Sinhalese-speaking Sri Lankan families in the rural U.S. influenced family language policy (FLP) and how they (re)positioned themselves in response to their transnational lives. Employing an ethnographic design, including interviews and observations, this study explores the families’ language ideologies and management strategies and the factors that shaped their policies. Both families held similar language ideologies but contrasting management strategies that were informed by a differing socioeconomic status and eventual home country return, and which in turn led to different ways of FLP formation and implementation. FLPs were aimed at accruing capital and social prestige to facilitate the navigation of spaces in family members’ present and (imagined) future lives in Sri Lanka and the U.S., and possibly beyond; yet, these same policies created a sense of ambivalence in regards to transnationals’ cultural and linguistic identities and attachments. The findings show the competing and contradictory forces at play in transnational bilingual children’s heritage language development. This study draws attention to how transnationals navigate global citizenry and how they make decisions about language as they reimagine and refashion their membership into multiple communities in an interconnected world.

Atypical case of hantavirus infection in Sri Lanka mimicking leptospirosis: a case report

BackgroundHantavirus infection is an emerging zoonotic infection which has two characteristic patterns of presentation: hantavirus pulmonary syndrome and hemorrhagic fever with renal syndrome. The clinical presentation of hantavirus infection closely mimics leptospirosis.Case presentationThis case report describes a previously apparently well 36-year-old Sri Lankan Sinhalese man who presented with an acute febrile illness with myalgia, with liver involvement in the form of transaminitis, cardiac involvement in the form of myocarditis, acute kidney injury, and pulmonary involvement. He was initially managed as severe leptospirosis with multiorgan dysfunction with antibiotics, steroids, and N-acetyl cysteine. A diagnosis of acute hantavirus infection was made subsequently. He made an uneventful recovery.ConclusionHantavirus infections need to considered in the differential diagnosis of patients presenting with acute febrile illness with multiorgan involvement. Larger studies are needed to evaluate the seroprevalence of hantavirus in Sri Lanka because it could be an emerging serious public health problem.

Migration, identity, and television audiences: Sri Lankan women’s soap opera clubs and diasporic life in Melbourne

This article examines a soap opera club of Sri Lankan Sinhalese migrant women in Melbourne and their collective engagement with television soap operas from the home country. Teledramas, as Sri Lankan Sinhalese-language soap operas are known, have a predominantly female viewership in Sri Lanka and also constitute a significant presence in the media diets of Sinhalese migrant women in Melbourne, and elsewhere in the world. Furthermore, at a women’s teledrama club affiliated to a Sri Lankan diasporic association, Sinhalese migrant women come together to exchange and archive reproduced DVDs of teledramas broadcast in Sri Lanka, bought from Sri Lankan grocery shops in Melbourne. This article builds on ethnographic research conducted at the teledrama club to show how what may appear to be an informal gathering of female teledrama fans is complexly interwoven into the expression of identity and belonging in Australian society. The article positions trans-Asia media flows in Australia within the everyday lives of migrants by examining the Sri Lankan soap opera club as a gendered space as well as a cultural space of identity, belonging and expression. This article finds that the teledrama club provided the women a symbolic national identity as an audience and the Sri Lankan narratives offered audiovisual access to the value systems of their distant geography and past.

Evaluation of non-coding region sequence variants and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in individuals of Sri Lankan Sinhalese ethnicity.

Mitochondrial DNA (mtDNA) mutations have been reported to be associated with various diseases, including cancer. The present study investigated the mtDNA non-coding region mutations and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in Sri Lankan Sinhalese women. Mitochondrial macro-haplogroups were determined using PCR-restriction fragment length polymorphism, whereas non-coding region sequences were determined using Sanger sequencing. The sequence of the non-coding region was also used to confirm haplogroup status. Neither the mutations in the non-coding region nor the mitochondrial haplogroups that were reported as risk factors in other populations, were determined to be potential risk factors for sporadic breast cancer in the present study. Furthermore, several novel mutations were identified in the present matched pairs case-controlled study. The M65a haplogroup with an additional mutation at position 16311 (P=0.0771) and mutations at the ori-b site (P=0.05) were considered a weak risk factor and protective factor, respectively, for sporadic breast cancer in Sinhalese women. Previous studies have indicated the use of mtDNA mutations as a biomarker; however, the present study showed that such biomarkers need to be validated for individual ethnic groups before they can be recommended for use in the prediction of disease.

Cephalometric norms for Sri Lankan Sinhalese adolescents with Class I malocclusion

Context: Comprehensive cephalometric analysis plays a significant role in orthodontic diagnosis and treatment planing and variety of cephalometric standards have been developed for different populations. It is important to develop standard cephalometric norms for different populations. Aims: The aim of this study was to develop cephalometric standards for Sri Lankan Sinhalese adolescents with Class I malocclusion and to test the hypothesis that there are racial differences in cephalometric measurements between Sri Lankan and Caucasian norms. Setting and Design: Cross sectional , hospital based, descriptive study. Materials and Methods: Lateral cephalograms were obtained from 33 males (aged 15.7 ± 1.99 years) and 42 females (aged 15.6 ± 2.29 years). Inclusion criteria were healthy individuals with normal growth and development, straight facial profile, average vertical facial proportions, full complement of dentition (excluding third molars), normal overjet and overbite, Class I incisor, canine and molar relationship, and no crossbite in the anterior/posterior region. Eight angular and four linear measurements were analyzed in skeletal, dental, and soft-tissue assessment. Statistical Analysis Used: Statistical analysis was performed using the statistical software R 3.5.0. Results: In the dentoalveolar assessment, the Sri Lankan subjects had a significantly proclined upper (UI to N-A = 23.28) and lower incisor (LI to N-B = 6.56 mm and 28.3) inclinations compared with the Caucasian norms. In the assessment of soft-tissue profile, both upper (1.66 ± 2.7mm) and lower lip (2.8 ± 2.6mm) protrusions were slightly increased than the norms of the Steiner analysis, and these findings were clinically significant. There were no apparent differences in relation to anteroposterior and vertical skeletal relationship when compared with Caucasian norms. Conclusions: The results of the present study suggested that Sri Lankan Sinhalese adolescents with Class I occlusion are likely to present greater incisor proclination than Caucasians. Key Messages: The present study suggested that Sri Lankan Sinhalese adolescents are likely to present greater incisor proclination than Caucasians in Class 1 malocclusion.

Estimation of stature from hand and handprint measurements in a sample of Sri Lankan Sinhalese population

Estimation of stature from hand and handprint measurements in a sample of Sri Lankan Sinhalese population

Dengue hemorrhagic fever presenting as encephalitis: a case report

BackgroundDengue fever and dengue hemorrhagic fever incidence is increasing in Sri Lanka, especially among the young population. Uncommon presentations of this common illness make diagnostic dilemmas and can delay standard treatment which leads to unfavorable outcomes.Case presentationAn 18-year-old Sri Lankan Sinhalese boy presented with a history of 1 day of fever and an episode of seizure followed by left-side hemiparesis. He was diagnosed to have dengue complicated by dengue hemorrhagic fever and recovered with minimal residual weakness. He presented with neurological symptoms; cerebrospinal fluid analysis, electroencephalogram, and magnetic resonance imaging showed evidence of encephalitis. Positive dengue antigen and antibody in serum and cerebrospinal fluid with the exclusion of other possible etiologies confirmed parainfectious dengue encephalitis. He was started on sodium valproate 200 mg 8 hourly and made a slow neurological recovery with mild residual weakness (grade 4+ power) in his left upper limb at 2 months with intensive supervised physiotherapy.ConclusionStandard national guideline-based management of dengue illness has significantly reduced its mortality rates in Sri Lanka. However, uncommon presentations of a common illness often cause diagnostic dilemmas. Hence, reporting of these presentations and knowing the epidemiologic patterns of the disease help physicians to arrive at the correct diagnosis even though they do not have sophisticated serological investigations. Overall, this can improve the quality of health care and reduce mortalities, especially in a resource-poor setup.

Familial glucocorticoid deficiency presenting with hyperpigmentation, gigantism, and motor development delay: a case report

BackgroundFamilial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Most patients are diagnosed following episodes of hypoglycemia or convulsion. We report the case of an infant with familial glucocorticoid deficiency who presented with hyperpigmentation, gigantism, and motor developmental delay without documented hypoglycemia, convulsion, or circulatory collapse.Case presentationA 10-month-old Sri Lankan Sinhalese baby boy born to consanguineous parents presented with generalized hyperpigmentation and overgrowth since birth. He had marginal gross motor developmental delay. His weight, length, and head circumference were above normal range for his age. Investigations revealed low serum cortisol and high adrenocorticotrophic hormone levels with no cortisol response following adrenocorticotropin stimulation. Serum electrolytes and aldosterone levels were normal. A diagnosis of familial glucocorticoid deficiency was made based on isolated glucocorticoid deficiency, hyperpigmentation, and tall stature.ConclusionsThis case report highlights that glucocorticoid deficiency can present without documented hypoglycemia and circulatory collapse and a high degree of suspicion is needed in diagnosis.

Kikuchi\u2013Fujimoto disease associated with systemic lupus erythematosus complicated with hemophagocytic lymphohistiocytosis: a case report

BackgroundKikuchi–Fujimoto disease, which was originally described in young women, is a benign condition characterized by necrotizing lymphadenitis and fever. Even though the clinical course is usually self-limiting, it can be associated with recurrences and rarely can be associated with systemic lupus erythematosus or can be complicated with hemophagocytic lymphohistiocytosis. We report the case of a 17-year-old Sri Lankan Sinhalese schoolboy who presented with fever and cervical lymphadenopathy diagnosed as Kikuchi–Fujimoto disease and was complicated with hemophagocytic lymphohistiocytosis subsequently. Later he fulfilled the criteria for systemic lupus erythematosus.Case presentationA 17-year-old previously healthy Sinhalese schoolboy presented with high-grade fever associated with chills and rigors associated with loss of appetite and loss of weight for more than 40 days. On examination, he had bilateral firm matted tender cervical lymphadenopathy and firm hepatomegaly. An excision biopsy of his right cervical lymph node revealed necrotizing lymphadenitis and immunohistochemistry of a lymph node biopsy favored Kikuchi disease. Initial antinuclear antibody and anti-double-stranded deoxyribonucleic acid tests were negative and his C3 and C4 levels were normal. An infections screening was negative. He was treated with steroids. While in hospital he developed hemophagocytic lymphohistiocytosis and renal impairment. Later his antinuclear antibody titer became positive in 1:160 and fulfilled the diagnostic criteria for systemic lupus erythematosus. He was managed with steroids and immune suppressive drugs and showed remarkable improvement.ConclusionAlthough Kikuchi–Fujimoto disease is uncommon in male patients, it needs to be considered in patients with lymphadenopathy and fever. The disease can be complicated with hemophagocytic lymphohistiocytosis and the patients need continuous monitoring for the possible development of systemic lupus erythematosus later in the course.

Bartter syndrome-like phenotype in a patient with diabetes: a case report

BackgroundBartter’s syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period. Rare cases of acquired Bartter’s syndrome are reported in association with infections like tuberculosis, granulomatous conditions like sarcoidosis, autoimmune diseases, and drugs. The mainstay of management includes potassium, calcium, and magnesium supplementation.Case presentationWe report the case of a 62-year-old Sri Lankan Sinhalese man with diabetes and hypertension presenting with generalized weakness with clinical evidence of proximal myopathy. He was severely hypokalemic with high urinary potassium excretion and hypochloremic metabolic alkalosis. He poorly responded to intravenously administered potassium supplements. A diagnosis of idiopathic Bartter-like phenotype was made. He responded well to spironolactone and indomethacin.ConclusionsPatients presenting with body weakness need serum potassium estimation. Acquired Bartter’s syndrome although rare, should be ruled out in those with hypokalemia and metabolic alkalosis with increased urinary potassium loss with poor response to potassium replacement.

Smith\u2013Lemli\u2013Opitz syndrome presenting as acute adrenal crisis in a child: a case report

BackgroundSmith–Lemli–Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith–Lemli–Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease.Case presentationA 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse. He had a normal perinatal period; however, his early infancy was complicated by poor feeding, episodes of loose stools, failure to thrive, and several episodes of unexplained drowsiness. His weight, height, and occipitofrontal circumference were well below the third percentile. He had soft dysmorphic features that included microcephaly, bitemporal narrowing, upward slanting eyes, epicanthal folds, partial ptosis, broad nasal bridge, low set posteriorly rotated ears, high arched palate, and short neck. Marked hyperpigmentation was noted in perioral, buccal, and palmar areas. His pulses were rapid and low in volume and his systolic blood pressure was low. Initial resuscitation was performed by administering multiple crystalloid fluid boluses. A septic screen was negative. His blood glucose and serum bicarbonate levels were low and serum electrolytes revealed hyponatremia with hyperkalemia. Serum spot cortisol level was low normal and 17-hydroxyprogesterone level was low. Diagnosis of Smith–Lemli–Opitz syndrome and associated adrenal crisis was made based on clinical and biochemical features. Intravenously administered hydrocortisone was commenced to which he showed a marked clinical response.ConclusionsThis case describes a rare and atypical presentation of Smith–Lemli–Opitz syndrome and highlights the importance of making early and accurate syndromic diagnoses in children with dysmorphism to avoid sudden and life-threatening complications.