Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare inborn error of metabolism that is characterized by impaired metabolism of ketones and isoleucine. The condition is inherited as an autosomal recessive disorder. Herein, we present a child with T2 deficiency from Mahaoya, Eastern Province, Sri Lanka. This three-month-old child presented with fever, difficulty in breathing, and irritability for one day and was subsequently found to have severe metabolic acidosis with positive ketone bodies in urine. His blood glucose was normal. Metabolic screening showed increased urinary excretion of 2-methyl-3-hydroxybutyrate (2M3HB), 2-methyl acetoacetate (2MAA), and tiglylglycine (TIG). He was diagnosed to have beta-ketothiolase deficiency based on biochemical studies. Genetic studies were not done due to financial constraints in the family. Severe metabolic acidosis was successfully managed with intravenous sodium bicarbonate infusion. T2 deficiency would be a differential diagnosis in children with unsolved ketoacidosis. Children with T2 deficiency have a better outcome if detected and managed early. The reported patient had age-appropriate growth and development at the latest follow-up at three years eight months while he has been on oral carnitine and bicarbonate.

Approach to the Adolescent With Substance Use in the Acute Setting.

Psychoactive substance use during adolescence is an emerging challenge to the public health system due to the potential negative impact on the emotional, cognitive, social, physical and academic outcomes of adolescents. An increase in autonomy during adolescence, peer influence and willingness to experiment, lead to taking high-risk decisions subsequently prompting towards substance abuse and alcohol use. Substance use is heterogeneous among adolescents, which differs with availability, perceptions of use and specific drug usage. In adolescents' substance abuse, beyond emergency care, brief counselling with psychosocial assessment and follow up are recommended for successful management. The article reviews the common substances used by adolescents, types of presentations, clinical evaluation of patients and their background, laboratory testing, emergency management and follow up for long-term management.

Postdengue chronic fatigue syndrome in an adolescent boy.

Chronic fatigue syndrome (CFS) is often preceded by a viral illness and has recurrent 'flulike' symptoms which include a wide spectrum of musculoskeletal and neurological clinical features. The condition is also known as myalgic encephalomyelitis and systemic exertional intolerance syndrome. CFS has been reported following dengue among adult patients. We report the case of an 11-year-old boy who developed CFS following recovery of dengue haemorrhagic fever (DHF). The reported child was initially managed as for DHF and was clinically asymptomatic on post-discharge day 3. He was re-admitted after 3 weeks with severe joint pains, myalgia and unbearable headache. As his symptoms persisted, he was investigated in-depth. All investigations were normal except mild elevation of liver functions. The diagnosis of CFS secondary to DHF was made by exclusion of differential diagnosis. At 1-year follow-up, patient continues to have symptoms after treatment with physiotherapy and nutrition counselling.

Review on Pneumococcal Infection in Children.

Childhood pneumococcal infection is a growing concern among paediatricians especially, in countries where there is no routine vaccination program against Streptococcal pneumoniae. The disease is associated with significant morbidity and mortality in young children particularly those who are under the age of two years. Its main virulent factors include polysaccharide capsule, autolysin, pneumolysin, choline-binding Protein A, the higher chance for genetic transformation, and the presence of pilli that facilitate enhanced binding of bacteria to host cellular surfaces. More severe and invasive pneumococcal infections are seen in children with immunodeficiencies, hypofunctional spleen, malnutrition, chronic lung disease and nephrotic syndrome. The disease spectrum includes a range of manifestations from trivial upper respiratory tract infections to severe invasive pneumococcal disease (PD). The basis of diagnosis is the isolation of bacteria in the culture of body fluids including blood. Antibiotics are best guided by sensitivity patterns and the emergence of resistance is a growing concern.

Retrospective Study of Clinico-Aetiological Factors of Chronic Urticaria Among Children Attending a Tertiary Care Paediatric Centre in Eastern Province of Sri Lanka.

Introduction: Chronic urticaria is one of the growing problems worldwide and the prevalence is increasing. Around 2% of children have been shown to be affected with chronic urticaria. Objectives: To evaluate demographic, clinical and aetiological factors related to chronic urticaria in children and to assess investigations and treatment. Method: A retrospective study was done from January 2018 to December 2019 on 40 children aged 1-14 years who presented with chronic urticaria to the paediatric clinic, University Paediatric Unit, Batticaloa Teaching Hospital. Detailed information including demographic factors, duration of illness, main reasons for clinic attendance, treatment received from the out-patient department, caregiver reported allergens, family history of atopy and complications such as secondary bacterial infection were retrieved from clinic-based records. Information regarding laboratory investigations was also retrieved. Data were analysed using SPSS version 19.0 (IBM Corp., Armonk, NY). Results: Forty children were available for the analysis. The most common age category was four to eight years and 25 (62.5%) were females. Seventy percent of children had urticaria for one or more years. Thirty-six (90%) children had a family history of allergies such as allergic rhinitis, eczema, food allergies, medication allergies and bronchial asthma. The common precipitating factors were foods in 12 (30%) cases and insect bites in 10 (25%) cases. The main reasons for seeking medical advice were severe itchiness in 40 (100%) and sleep disturbances in 24 (60%). Only a limited number of investigations had been performed and they included white cell counts (differential eosinophil counts) and thyroid functions. Almost all had normal thyroid functions whilst 45% had eosinophilia. Conclusions: The majority of children with chronic urticaria had symptoms for over the one-year duration and reported a family history of allergy. All children reported severe itchiness as the main symptom and sleep was disturbed in the majority. The common precipitating factors were food and insect bites.

Clinical Profile, Risk Factors and Outcomes of Children With Cutaneous Larva Migrans Infection: A Hospital-Based Study.

Background Cutaneous larva migrans (CLM) is a neglected parasitic skin disease caused by hookworm larvae such as Ancylostoma braziliense and Ancylostoma caninum. It is more common in tropical and subtropical countries. Evidence regarding clinical profiles, risk factors and outcomes of children with CLM in the Eastern province of Sri Lanka is scarce. Aim The aim of this study was to evaluate demographic profile, risk factors, clinical manifestations and outcomes associated with CLM in children who presented to paediatric and dermatological clinics of the Teaching Hospital, Batticaloa, Sri Lanka.  Method A retrospective study was conducted over three years from January 2017 to December 2019 among children who presented with CLM infection to paediatric and dermatological clinics of the Teaching Hospital, Batticaloa, Sri Lanka. Twenty-eight children who were aged between 1 and 14 years were recruited for the study. Detailed information including demographic factors such as age, sex, residence and mother's education, risk factors for infection, main reason for clinic visit, duration of illness, site of lesions, number of lesions, treatment received from out-patients department and/or general practitioner, duration of treatment, associated secondary bacterial infection, family history of similar infections and laboratory investigations were extracted from clinical records. Data were analyzed using SPSS version 19.0 (IBM Corp., Armonk, NY). Results Among 28 children recruited for this study, 19 (67.9%) were male children and 9 (32.1) were female children. The majority of children were below 6 years (n=25, 88.3%). Twenty-six (92.9%) children had residence in rural areas and also belonged to low socioeconomic class. Most cases were detected in Valaichenai (32.1%) and Kattankudy (21.4%) 'Medical Officer of Health' (MOH) regions. The majority of mothers were educated only up to ordinary level or below (n=19, 67.8%). All patients had pets either dogs or cats at home and no pets had been dewormed. Almost 92.9% of children acquired disease whilst playing on the infected soil The main reason for clinic visit had been itchiness and this presentation accounted for 60.7% (n=17). Skin infection accounted for 25% of presenting problems. Majority of them presented late to the clinic with the lesions of more than three weeks of duration (n=17, 60.7%). Single lesion was noted in the majority (n=27, 96.4%) except one child who had three lesions. Buttock lesions were observed in 35.7%, feet in 25%, and 10.7% in legs. Investigations revealed eosinophilia in 50% (n=14) of patients and neutrophil leukocytosis was seen in five patients (17.9%). All patients received treatment either from the general practitioner or outpatient department for variable duration without success before attending the specialist clinic. Fifty percent of patients needed treatment with Albendazole and antihistamine for more than three weeks to achieve complete cure. It was also observed that overall occurrence had been declining over the past three years. Conclusion CLM is a common and unreported disease in Eastern province, Sri Lanka. The majority of children presented from low socio-economic backgrounds. The common risk factors were the presence of dewormed pets at home and contamination with infected soil. The majority of children had a single lesion on presentation. Fifty percent of children needed more than three weeks of treatment to achieve a good response.

Early-Onset Multiple Sclerosis With Frequent Relapses: A Challenging Diagnosis With a Less Favorable Prognosis.

Pediatric multiple sclerosis (MS) is a rare demyelinating disease of the brain, spinal cord, and optic nerve caused by immune modulators mediating against the neuronal axons of the central nervous system. MS is usually characterized by a series of neurological events, without any features of encephalopathy, separated in time and space. The complications arise from the permanent degeneration of the nerves. This condition can be diagnosed based on International Pediatric Multiple Sclerosis Study Group diagnostic criteria, and there is no definitive treatment for MS. We report the case of a male child who was diagnosed with MS at the age of six years when he presented with right hemiparesis and visual impairment. Subsequently, he had multiple relapses with varied neurological presentations, and each relapse was treated with methylprednisolone.

PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy.

PHACE syndrome is a rare disorder of vasculogenesis that occurs during the first trimester of pregnancy. The disorder commonly presents with posterior fossa brain anomalies and coarctation of aorta/arterial anomalies and is predominantly seen in female patients. Herein, we report a male child with PHACE syndrome who had several less common features such as cortical dysplasia, retinal degeneration, and microphthalmia. The diagnosis of PHACE syndrome was confirmed based on revised diagnostic criteria and by the presence of one major criterion and two minor criteria in addition to >5 cm haemangioma. Further, the reported child had atrial septal defect as the only cardiac abnormality, and this has been rarely described in patients with PHACE syndrome.

A Study on Digit Sucking Among Children Presented to a Tertiary Care Paediatric Clinic in Sri Lanka.

Background Sucking habits are common among children, especially in early childhood. There is, however, controversy about its prevalence probably due to under-reporting. The objective of this study is to analyze the demographic factors, reasons for clinic attendance, and treatment options chosen by parents and health care providers to control digit sucking. Material and methods A retrospective cross-sectional study was conducted including 82 children presented to the paediatric clinic, Teaching Hospital, Batticaloa, with digit sucking over a period of three years from November 2017 to October 2020. The data was analyzed using SPSS version 19.0 (IBM Corp., Armonk, NY, USA). Results Eighty-two children were enrolled in this study. The majority (n=29, 35.4%) of them presented between seven months to two years, and very few (n=3, 3.6%) presented after five years. Female children outnumbered males (50: 32). Only 24 (29.3%) mothers had been working and away from home during the daytime whilst the rest were housewives and were available to their children most of the time of the day. About 70 (85.4%) children had been given exclusive breastfeeding while the rest had either formula alone or formula with breastfeeding during the first six months of their age. Around 62 (75.6%) children had used their right hand for sucking. Sixty-six children (80.5%) had been using the thumb. Most children (n=56, 68.3%) were sucking since birth. The most common reason (n=68, 82.9%) for clinic attendance was that parents were scared about the future occurrence of mal-alignment or malocclusion of teeth. Thirty-one parents (37.8%) did nothing to stop digit sucking while 25 (30.5%) applied bitter oil and the majority tried pacifier without success. All children were referred to the dental surgeon for further management of digit sucking and amongst them, 78 children (95.1%) attended the appointment. All 78 children had been reassured that the habit eventually disappears before permanent teeth will appear and explained that digit fixing therapy would be offered for persisting habitual digit sucking. Four children did not visit the dental department.  Conclusions The majority of children presented to the clinic were below three years and females outnumbered males in all age groups. A greater number of children had been using their right hand and thumb. Most of them had the habit of sucking since birth and most of the parents anticipated mal-alignment of teeth due to consequences of sucking. None of them succeeded in stopping the habit of digital sucking with various remedies performed at home by their parents.

Child with dengue haemorrhagic fever complicated by ileocaecal intussusception.

Dengue fever is one of the most common neglected tropical diseases with an increasing trend seen in Sri Lanka and many other tropical countries. A number of unusual presentations and complications of dengue fever have been reported, and acute abdomen is one such presentation. However, intussusception as the cause of acute abdomen in a patient with dengue haemorrhagic fever has not been previously reported. The authors report a child who was diagnosed to have intussusception during the critical phase of dengue haemorrhagic fever while having a platelet count of 15×103/cumm. The child had initial point-of-care ultrasound followed by detailed ultrasound of the abdomen by the radiologist, and the diagnosis of ileocaecal intussusception was confirmed. Intussusception was relieved by saline reduction and without needing laparotomy. Early diagnosis and non-operative management prevented emergency laparotomy.

Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children.

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare ciliopathic genetic multisystem disorder. It has several primary and secondary clinical features, which include central obesity, retinitis pigmentosa, mental subnormalities, polydactyly, and renal dysfunction. The majority of children may not show all clinical features at birth, and clinical features can develop progressively over the years. The authors report two children who were followed up for obesity at the pediatric clinic in the local hospital and the ophthalmology clinic at the tertiary care center, respectively, without a diagnosis, and were referred for specialist pediatric evaluation of hypertension detected on their routine checkup and for further management. Both children were investigated and found to have satisfied criteria for LMBBS in association with primary hypertension. Both children were diagnosed late as LMBBS at 12 years and four years of their age although both of them had enough features to have a suspicion of this syndrome.

Subgaleal Abscess Following Staphylococcal Cellulitis in a 10-Month-Old Child: A Diagnostic Challenge for the Clinician.

Subgaleal abscess is an extremely rare and unusual presentation of head and neck infections and has been reported to occur following scalp infections, head trauma, sinusitis, septicemia, scalp monitoring, and surgical interventions. We report a 10-month-old child who presented with cellulitis around a pustule on the right forehead of three days duration. It was initially treated with oral cloxacillin for five-days. However, the child went on to develop a high continued fever on the day of discharge and remained febrile and unwell for seven days until a subgaleal abscess was identified and surgical drainage was performed. Pus cultures grew Staphylococcus aureus, which was sensitive to flucloxacillin. Following drainage of the abscess and change of antibiotics to intravenous flucloxacillin, fever completely subsided and the child made a complete clinical recovery. This report highlights the importance of having a high clinical suspicion of this rare complication in children with continuing high spikes of temperature following skin infections in the head region.

Cutaneous larva migrans in a young child following circumrotation as a cultural ritual.

Cutaneous larva migrans is an acquired, self-limited infestation caused by cat hookworm, Ancylostoma braziliense, and dog hookworm, A. caninum The disease is acquired by direct contact with contaminated soil. Circumrotation is a religious ritual practised by devotees of Hinduism as a fulfilment of vows taken at the shrine and involves rolling over with uncovered upper body on the sand over a distance of up to 600 m. It is a reported mode of acquisition of cutaneous larva migrans infestation. The authors report a 10-year-old boy who acquired cutaneous larva migrans on his right forearm after circumrotation. The forearm is an unusual site for this infestation, and most reported cases had lesions on the feet, thighs and buttocks following either sitting or playing on contaminated soil. The child made complete recovery following treatment with albendazole for 1 week.

Cutaneous Larva Migrans Infestation Over Buttocks and Perineal Region: A Case Series of Five Toddlers From Sri Lanka and Literature Review.

Cutaneous larva migrans (CLM) is a cutaneous infestation caused by a hookworm larva. We report five toddlers who presented to the pediatric clinic with characteristic cutaneous lesions of CLM over the buttock and perianal region over periods of variable duration. Lesions of four children were typical and linear and one child had an atypical lesion. All were diagnosed as cutaneous larva migrans based on clinical history and examination. Complete recovery in all five children was achieved following treatment with oral albendazole.

Dengue Fever Associated Haemophagocytic Lymphohistiocytosis: A Report of Two Children.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, fatal complication of dengue infection and often leads to multi-system involvement and failure. Early recognition is crucial in improving the outcome. We report two children who developed secondary haemophagocytic lymphohistiocytosis following dengue fever. A 14-year-old girl who was diagnosed with beta-thalassemia major presented with dengue hemorrhagic fever and developed a continuous very high fever, persistent thrombocytopenia, and anemia despite several transfusions of blood and blood products. The other child was a 12-year old girl who, following initial confirmation of dengue fever, presented with persistent fever and hepatosplenomegaly. The diagnosis of HLH in both children was confirmed by clinical and laboratory features supported by the demonstration of haemophagocytes in the bone marrow. Both children were treated with steroids and supportive care and made a gradual recovery with treatment. Second-line immune-suppressive treatment was not needed. Whilst sepsis is a priority differential diagnosis in children with persistent fever following recovery from dengue fever, HLH should always be suspected early in these patients. Early, appropriate immunosuppressive treatment is likely to improve long-term outcomes and prevent mortality.

Invasive Streptococcus Pneumoniae Septicemia Complicated with Hemolytic Uremic Syndrome and Meningitis.

Streptococcus pneumoniae-associated hemolytic uremic syndrome (SpHUS) is an uncommon cause of hemolytic uremic syndrome (HUS). The diagnosis and treatment of Streptococcus pneumoniae-associated HUS is often difficult and associated with high long-term morbidity and mortality. The authors report a five-year-old child who developed HUS following an invasive Streptococcus (S.) pneumoniae infection. The child initially presented with fever, cough, and difficulty in breathing for three days duration and was clinically and radiologically diagnosed as having right middle lobe pneumonia. Blood culture grew Streptococcus pneumoniae. The cerebrospinal fluid analysis also showed Streptococcus pneumoniae. He was initially treated with intravenous cefotaxime. As the child had a poor response to cefotaxime with ongoing fever, antibiotics were changed to ceftriaxone and vancomycin. Although fever started to subside subsequently, the child deteriorated with reduced urine output and developed generalized body swelling. The hematological and biochemical evaluation confirmed hemolytic uremic syndrome. He needed continuous renal replacement therapy for five days and antibiotics were given for 14 days. He had no long-term sequelae on follow-up.

Sucking Pads: A Report of Two Newborns.

The sucking pad is a hyperkeratotic thickening of the lips of a neonate. It might present either at birth or develop later in the neonatal period. It indicates that the child has effective sucking. We present two babies who developed the peeling of the lips during the neonatal period. It was mistreated as various conditions. Ultimately, it was diagnosed as a sucking pad, and the parents were reassured that it was a benign lesion.

Refractory Kawasaki Disease Presenting With Erythema at Bacille Calmette-Guérin Inoculation Site: A Paediatric Case Report.

Kawasaki disease (KD) is an autoimmune disease that generally affects children under the age of five years. It has a variety of clinical manifestations which may be either specific or nonspecific. Intravenous immunoglobulin and aspirin are the mainstays of treatment. There are unusual circumstances where patients are resistant to conventional treatment. We report a one-year-old girl who presented with a 12-day history of fever in association with erythema at the site of Bacille Calmette-Guérin (BCG) scar. She did not respond successfully to conventional treatment although she was diagnosed to have Kawasaki disease. Eventually, she responded to intravenous methylprednisolone and was diagnosed as having refractory Kawasaki disease.

Focal Status and Sub-Ependymal Tumor as Features of the First Presentation in a Child With Tuberous Sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant inherited disorder that affects multiple organ systems. Usually, children with TS present either with neurocutaneous stigmata or seizures during the early years of life. The mortality and morbidity are related to refractory epilepsy, giant cell astrocytoma and related complications, and multiple angiomyolipomas. The authors have reported an eleven-year-old child in whom focal status and sub-ependymal tumor were the features of the first presentation of tuberous sclerosis. The report further highlights the importance of early identification of cutaneous features by primary care providers and parents to enable early comprehensive multi-disciplinary management.

Adolescent Pregnancy and Outcomes: A Hospital-Based Comparative Study at a Tertiary Care Unit in Eastern Province, Sri Lanka.

Background Adolescent pregnancy is a high-risk condition that can potentially lead to adverse perinatal and obstetric outcomes. It is a growing concern in developing countries including Sri Lanka. The main objective of this study was to evaluate obstetric and perinatal outcomes amongst adolescent pregnancies and compare them with outcomes of pregnancies of average maternal age (AMA) women. Method This was a prospective, cross-sectional study conducted at a tertiary care hospital in the Eastern province of Sri Lanka. A total of 795 primigravidae who had singleton pregnancies and delivered their live babies over a period of three months from February to April 2019 were selected for the study. The data were retrieved from Bed Head Tickets (BHTs) of those patients upon discharge from the postnatal ward. Results The majority of primigravida was AMA women and accounted for 83.4% (n=663) of the study population while primiparous adolescents comprised 16.6% (n=132). Among the 132 adolescent pregnancies, 81.1% (n=107) were associated with complications and the remaining 18.9% (n=25) were uncomplicated. The most common risk associated with adolescent pregnancy was the low birth weight (LBW; n=24, 18.2%), followed by preterm labour (n=10, 7.6%). An adolescent mother had a 1.3 times higher possibility of delivering an LBW baby than an AMA mother and the risk was statistically significant (p=0.04). The likelihood of delivering an intrauterine growth restriction (IUGR) baby was higher in adolescent mothers (6%) than in AMA mothers (5%). Adolescent mothers had a 1.2 times higher chance of delivering newborns with IUGR compared to AMA mothers; however, the difference of IUGR was not statistically significant (p>0.05). The incidence of foetal distress was less among adolescent mothers compared to AMA mothers. The majority of the babies (n=126, 95.5%) of adolescent pregnancies were healthy. Only 4.5% (n=6) babies needed neonatal intensive care unit (NICU) admissions; of those, four babies had very LBW and prematurity and the other two babies depressed at birth and developed respiratory distress. Conclusion Adolescent pregnancy carries a significant risk of obstetric complications including LBW and prematurity that should draw public and healthcare providers' attention. The effectiveness of a comprehensive antenatal and community-based program to prevent adolescent pregnancy and related adverse outcomes should further be evaluated.