The causes of neonatal hypoxemia are usually either pulmonary or cardiac pathologies. We report a case of a 2-month-old boy with oxygen dependency since birth. He would desaturate down to 88-90% whenever supplemental oxygen was weaned off. Initial screening echocardiograms described only a small atrial septal defect, thus lung disease was thought to be the aetiology. Eventually, a detailed echocardiogram and CT angiography revealed anomalous right superior vena cava (RSVC) draining into the left atrium (LA). Echocardiography with bubble study injected via the upper extremities showed brisk filling of “bubbles” in the left heart, confirming fixed right-to-left shunting. Anomalous RSVC drainage into the LA is an extremely rare form of anomalous systemic venous drainage whereby unexplained hypoxemia is present and is sometimes the only clinical manifestation. Surgical correction of this anomaly is indicated to prevent complications of cyanosis and risk of systemic embolization. The surgery generally carries low risk and is associated with good long-term prognosis.
Introduction: Parents play an important role in the management of their asthmatic children. Thus the ability of parents to recognise asthma trigger factors are very important.
Objectives: The objectives of this study were to identify the trigger factors that were recognised by parents to cause acute exacerbation in their children and analyse the association of these factors with severity of asthma and parental asthma knowledge.
Methods: Sixty-seven parents were interviewed to identify factors that can exacerbate acute asthmatic attack in their asthmatic children. The factors were then categorised as: infection, exercise, allergen, irritant, emotion and weather. The profiles of children were asthma severity status, duration of asthma, age, frequency of admission and steroid dosage. Parents' profiles were their age, number of asthmatic children and the level of asthma knowledge.
Result: Fifty-six (83.5%) parents identified more than one trigger factor for their children's exacerbation. The commonest frequency was two trigger factors (31.3%). Upper respiratory tract infection (77.6%) was the commonest trigger factor. There was no association between the number of trigger factors with the severity of asthma and level of parental asthma knowledge. The number of trigger factors significantly correlated with asthma duration (r = 0.33, p = 0.006). The asthma severity was associated significantly with weather (p = 0.042) but not with other trigger factors.
Conclusion: The majority of parents recognised more than one trigger factors to cause asthma exacerbation.
Cellulitis in human following leech bite is rae, many of the case reports were associated with the use of medical leech. We report the first documented case of cellulitis following the bite of land leech (Haemodipsa species), known locally as 'pacat', in a 2 month-old-baby. The baby developed fever but subsided following an antibiotic cover. The baby had uneventful stay in the hospital and the cellulitis was successfully treated following a week cource of Cloxacillin.
Visceral hyperalgesia, intestinal dysfunction and unexplained irritability in neurological impaired children is a medical enigma for many healthcare professionals. The neuro-medical management can be challenging and difficult, due to poor understanding of the underlying aetiology and pathophysiology of the condition. Neuro-enteric axis has been proposed as emerging physiologic mechanism in the pathogenesis of many gastrointestinal diseases. The bidirectional connection between enteric and central nervous system may represent a direct relationship between neurological system and gut physiology. Insult to the brain indirectly contribute to the ongoing gut and brain axis sequalae. Microbiota has been an important modulator in the brain-gut axis. Irritability episodes in severe neurological impairment children has been commonly associated with pain originated from gastrointestinal pathology. Management of such condition requires a holistic approach to tackle multidimensional factors that has contributed to the ‘totality’ of the symptoms.
Cor-triatriatum is a rare cardiac anomaly. In literature, majority case reports on the condition focused on its late presentation in adulthood. It can be easily corrected by surgical intervention to avoid pulmonary congestion and subsequent pulmonary hypertension. We report a rare case of cor-triatriatum with severe pulmonary hypertension in a 7-week-old baby who presented with persistent tachypnoea.
Continuous ketamine infusion has been used successfully to treat severe refractory bronchospasm in children requiring mechanical ventilation in the intensive care setting. One of the common side effects known is emergence delirium. There is no standardized treatment for the ketamine-induced emergence delirium although benzodiazepine, haloperidol and dexmedetomidine have been reported to be effective in the past. A 7-year-old girl admitted to a tertiary hospital for life-threatening asthma requiring immediate intubation and ventilation. Ketamine was used as sedative and bronchodilator in anticipation of her challenging ventilation strategy. She was successfully extubated on day 8 of admission, however, she developed symptoms associated with the delirium. Successful reversal of the symptoms was achieved after 48-hour use of low dose intravenous midazolam. This was the first case reported on the reversal of ketamine-induced emergence phenomenon using low dose intravenous midazolam infusion.
Asthma is considered as heterogeneous multidimensional disorder due to variable phenotypic presentation. Phenotype is defined as a cluster of either clinical or pathologic features, which tends to be associated with the understanding the mechanisms of the disease. Asthma is typically characterized by airway inflammation, variable airway obstruction, bronchial hyper-reactivity, smooth muscle hypertrophy and apparent reversible airflow obstruction by bronchodilators. ‘Asthma syndrome’ is a term to describe complex pathophysiology of the condition which is not exclusive to allergen triggered episodes. Diagnosing childhood asthma is difficult, due to the similarity of symptoms and overlapping with other wheezing conditions. The precise mechanism for asthma exacerbation, for each individual phenotype is not fully understood. However, it is influenced by genetic interaction with variety of external environmental stimuli. The current understanding on asthma phenotypes were interpreted based on age of onset, associated triggers, clinical aspects, physiologic parameters and type of inflammation (Table 1). Due to the illdefined of the current phenotypic definition and disagreement among the respirologists, it is becoming a challenge to label specific phenotype with certainty. Accurate definition of each phenotype should therefore be helpful to provide better understanding of different mechanistic pathways and focusing on targeted therapy for individual phenotype. (Copied from article).
Spinal Muscular Atrophy (SMA) is a heredity neuromuscular disorder and is one of the most common genetic causes of childhood fatality. SMA is classified into three groups based on age of onset and achieved motor milestone. Survival Motor Neuron (SMN) gene has been identified as the responsible gene for SMA. From August 2003 until Feb 2007 we have received 93 samples for SMN1 gene deletion analysis from various hospitals in Malaysia. All the patients except for 3 patients were Malaysian (71 Malays, 5 Indians, 9 Chinese and 5 patients are mixed ethnicity). DNA were extracted from blood samples using DNA extraction kit and subjected to SMN/ gene deletion analysis by PCR-RE. Forty nine out of 93 samples (20 type I, 21 type II, and 8 type III) were found to have homozygous deletion of at least exon 7 of the SMN1 gene. Twelve patients (7 type I, 4 type II, 1 type III) showed the presence of the SMN1 gene and the rest were excluded as they did not fulfill the criteria of International SMA Consortium. Deletion analysis of exon 7 of the SMN gene can be an alternative to the existing diagnostic modalities of SMA.
Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.
Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.
Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.
Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.
The two vital aspects of treatment for patients with tha-lassaemia are regular blood transfusions and iron chela-tion therapy. Unfortunately, the use of blood transfu-sions exposes these patients to the risks of acquiring transfusion related viral infections such as hepatitis C. Patients who acquire the hepatitis C virus (HCV) may develop chronic hepatitis and later on hepatocellular carcinoma. Hence, patients with thalassaemia should be regularly screened for the presence of HCV. We report here the results of a cross-sectional study conducted in a typical day-care centre for thalassaemics at the Hospital Universiti Kebangsaan Malaysia, involving 85 multiply transfused patients. We found that 19 patients (22.4%) were seropositive for HCV and two of them had positive HCV-RNA. Those who had started receiv-ing their transfusions before 1995, i.e. the year routine screening for HCV amongst blood donors were com-menced, and those who received transfusions 2-4 week-ly had a significantly higher risk of acquiring HCV infection.
Objectives: This study aimed to estimate the proportion of tuberculosis patients among children and adolescents, to describe the socio-demography and clinical factors for tuberculosis infection among children and adolescents in Kelantan from 2012 until 2015. Methods: This study was a retrospective cross-sectional study between tuberculosis and non-tuberculosis cases among children and adolescents using Tuberculosis Information System as a source population. All notified cases that fulfilled the inclusion and exclusion criteria were included in the study. Descriptive statistics, simple and multiple logistic regressions were used for data analysis. Results: Out of 5412 tuberculosis cases, 8.4% were children and adolescents group with mean age of 15. Among 322 children and adolescents with tuberculosis, majority of them were Malay (91.2%), 7.5% illiterate and 79.6% resided in non-urban area. By clinical factors, 2.8% were Human Immunodeficiency Virus (HIV) positive and 14.6% were cigarettes smokers. Older age, cigarettes smoking, female gender, Malay ethnicity, good education level and non-urban residence were the significant associated factors for tuberculosis infection among children and adolescents with AOR 1.41 (95%CI: 1.29,1.54; p
Neuroblastoma is usually presented with abdominal distension. However, central nervous system manifestations of neuroblastoma are uncommon. In this case report, patient presented with uncommon presentation of neuroblastoma and the diagnostic dilemma.
HbE/β-thalassemia is the most common severe form of thalassemia particularly in SEA region including Malaysia and globally, it comprised of a significant severe form of β-thalassemia disorder. It has various clinical manifestations ranging from very mild anemia to severe manifestation similar to beta thalassemia major. Many different syndromes are observed in HbE/β-thalassemia. Several genetic modifiers have been reported to play important role in contributing to phenotypic variability. The true reasons underlying this phenotypic variability remain unknown. The most reliable predictive factor of the disease phenotype is the nature of the beta globin gene mutation itself. However, the degree of severity is also believed to be affected by other genetic modifiers. For instance, high HbF level ameliorates the clinical severity of β thalassemia patients. Therefore, identification of these genetic modifiers is very important. The association of severe clinical manifestation and the specific β-globin gene mutation has been known. But the wide scope and other potential predictors have been only recently appreciated. This review therefore aimed to reveal the potential genetic modifiers of HbE/βthalassemia patients based on the previous reported studies. A better understanding on the mechanisms underlying the variety of phenotypes of this disease may lead to the direction for a better future management plans. This also promotes “personalized medicine” in patient care.
The aim of the study was to determine the effect of pro-phylactic low dose dopamine infusion on renal function in ventilated premature newborns with respiratory dis-tress syndrome (RDS). A prospective, randomised con-trolled trial was conducted, using low dose dopamine [2.5μg/kg/min] in the treatment of preterm babies with gestational age 28-36 weeks requiring mechanical ventilation for RDS within six hours of age. Thirty-six babies were enrolled and 19 babies were randomly assigned to the treatment groups. The renal function after 72 hours for the treatment and control groups respectively were: urine output (ml/kg/hour) 3.3±0.4 and 3.0±0.3 [p=0.55], urine specific gravity 1006±0.6 and 1006±1.0 [p=0.68], fractional excretion of sodium 4.1±0.8 and 2.6±0.4 [p=0.10], fractional excretion of potassium 37.44 ± 5.6 and 16.49 ± 2.2 [p=0.001], glomerular filtration rate (ml/day/1.72m2) 16±2.6 and 25.6±4.5 [p=0.06]. There were no significant differ-ences in the frequency of hypotension, oliguria and sep-sis between the two groups. There were seven deaths (36.8%) in the treatment group (six due to sepsis and one due to prematurity) and two deaths (11.8%) in the control group (both due to sepsis) (p = 0.13). In con-clusion prophylactic low-dose dopamine infusion did not improve the renal function in ventilated premature babies with respiratory distress syndrome. The results of this study do not support the routine use of prophylac-tic low-dose dopamine in ventilated preterm babies with respiratory distress syndrome.
Background: Kawasaki Disease (KD) and acute rheumatic fever are the two leading causes of acquired heart disease in children in the developing countries. Objectives: To determine the epidemiology of KD and its short-term outcome in Malaysian children. Materials & Methods: A retrospective study of patients with a diagnosis of KD at the Kuala Lumpur Hospital from January 1999 to December 2003. Results: 84 patients with KD were seen over the 5 year period. Of these, 52 (61.90%) were male and 32 (38.10%) female. Malays comprised 51 (60.71%), Chinese 30 (35.71%) and Indian 3 (3.57%). Their ages ranged from 2 months to 11 years 1 month old. There were 25 (29.76%) patients less than one year old, 50 (59.52%) aged 1-4 years, 4 (4.76%) aged 5-7 years and 5 (5.95%) were more than 7 years old. Echocardiographic examination during the acute phase showed that 24 patients (28.57%) had coronary artery dilatation; 23 had mild dilatation and one had giant aneurysm involving both coronary arteries. Echocardiographic examination at 8 weeks showed that 5 (21.74%) of the 23 patients with mildly dilated coronary arteries had resolved; the bilateral giant coronary aneurysms remained the same. There was no death due to KD over the 5 year period. Conclusion: KD occurred most commonly in children aged 1-4 years old with a peak at 17 months. There was male preponderance with a male to female ratio of 1.6:1. Despite immunoglobulin therapy, 29% of patients had coronary artery involvementduring the acute phase; 22% of those with mild coronary artery dilatation resolved at 8 weeks after disease onset.
Meconium aspiration syndrome (MAS) frequently occurs in neonates born in thick meconium-stained liquor (TMSL). It continues to be a significant cause of neonatal morbidity and mortality despite aggressive approaches to intervention. This study aims to identify the perinatal characteristics of deliveries with TMSL associated with the development of MAS and to describe the outcome of those babies who developed MAS.
All newborns with TMSL born in Hospital Alor Setar, Kedah from 1 October 1998 to 30 April 1999 were prospectively studied. In the hospital, all newborns with TMSL were routinely admitted to the Special Care Nursery for observation. Relevant data regarding pregnancy, delivery, resuscitation and outcome of newborns with and without MAS were collected and analysed. The incidence of TMSL among hospital deliveries was 2.2% (95% C.I. 1.8-2.5%). Thirty-six percent (95% C.I. 28.4-44.7%) of newborns with TMSL developed MAS. Significant risk factors associated with the development of MAS were non-Malay mothers (p=0.04, OR=3.32), resuscitation by paediatric medical officers (p=0.02, OR=2.84) and direct tracheal suction during resuscitation (p=0.02, OR=2.61). The presence of non-Malay mothers or resuscitation by paediatric medical officers or direct tracheal suction during resuscitation gave a sensitivity of 88.2%, specificity of 36.7%, a positive predictive value of 44.1% and a negative predictive value of 84.6% for the development of MAS. Asphyxia, pneumothorax and persistent pulmonary hyper-tension occurred in 25.5%, 7.8% and 5.9% of the babies with MAS respectively. Mechanical ventilation was required in 51% and the mortality rate was 3.9%. In conclusion, the incidence of TMSL and MAS and the mortality rate of neonates with MAS were comparable with that in developed countries. The presence of any one of the significant risk factors had high sensitivity but low specificity for the development of MAS. Newborns were unlikely to develop MAS if all these risk factors were absent.
Objective: To describe the effect of mycophenolate mofetil in Pakistani children with steroid dependent and steroid resistant nephrotic syndrome. Methods: This is cross sectional retrospective review of 16 patients; 9 boys and 7 girls (11 SD/FRNS and 5 SRNS) for a period of 4.8 years. This study was conducted in Mayo hospital and Fatima Memorial hospital specialist care centre, Lahore involving urban and suburban population. Results: The median age of the group was 4 years (1.6 to 12.6 years). Seven patients had histological diagnosis of MCN, 3 had diffuse mesangial proliferation, one of membranoproliferative glomerulonephritis and 4 had FSGS. Out of 5 SRNS 4 were found to have FSGS and 1 had membranoproliferative glomerulonephritis (MPGN). A total of three patients were completely off steroids and in two patients MMF was also successfully stopped. Number of relapses /patient /year calculated by applying Wilcoxan signed rank test was found to be 4.31 + 0.87(3.00-6.00 /patient/year) before starting MMF, which dropped to 1.12 + 0.718 (0.00- 2.000 /patient/year) after starting MMF, p=0.0001. Reduction in steroid dose from mean of 0.85 + 0.18 mg/kg/day to 0.3mg/kg/day + 1.56 was achieved in 12 months, p
Primary immunodeficiency disease (PID) or inborn error of immunity is a heterogeneous group of inherited diseases affecting the immune system resulting in increased susceptibility to infections, immune dysregulation, autoimmune manifestations, lymphoproliferation and malignancy. Cases of PIDs have been reported in Malaysia since 1977 and the numbers of reported cases steadily increased for the past 30 years with more trained clinical immunologist available, better immunodiagnostic facilities, wider immunoglobulin replacement therapy availability and improved techniques in haematopoietic stem cell transplantation for PIDs. In this article, we highlight some of the limitations and challenges in the diagnosis and therapy of PID, and more recent efforts to establish PID services in Malaysia.