Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen’s disease is a multisystem genetic disorder that occurs with an incidence of 1 in 4000 live births. Plexiform nmeurofibroma (PN) is a rare important variant of NF1, seen in 5 to 15% of cases. We report a 7-year-old boy, without family history of neurofibromatosis presented with left neck swelling associated with multiple café au lait spots for one-year duration. Computed tomography of head and neck revealed an extensive soft tissue lesion involving the left parapharyngeal, carotid space and parotid space encasing the left internal and common carotid artery until its origin at the arch of aorta with erosion of the basiocciput. He underwent transcervical excision of the lesion, which was confirmed histopathologically as PN.
Life (QOL) of patients with childhood leukaemias presenting at the Hospital Universiti Kebangsaan Malaysia (HUKM). The objectives of this pilot study were 1) To assess the feasibility and applicability of assessing quality of life in leukaemia patients using the adult-based SF-36 questionnaire. 2) To compare the differences of QOL scores among patients based on gender and treatment status. The Short-Form-36 Health Survey (SF36) was used. The items in SF-36 were drawn from the original 245-item MOS questionnaire, which includes multi-item scales that measured the eight dimensions of quality of life namely physical function, role limitations (physical problems), bodily pain, general health, vitality, social functioning, role limitations (emotional problems) and mental health. Patients with acute leukaemias were chosen to participate in the study. Twenty-eight patients were recruited, twelve were males and 16 were females. Ten patients had completed therapy whilst 18 others were still undergoing treatment. The results showed that those patients off treatment have a better quality of life than those on chemotherapy. However, this was only significant with respect to the role limitation pertaining to physical problems. Although the use of the SF-36 was feasible, there were limitations especially in the younger age group.
Purpose: We aim to describe the clinical profile and visual outcome of paediatric patients who underwent cataract surgery in a tertiary ophthalmology referral centre in West Malaysia from 2013 to 2018. Methods: This is a retrospective review of all paediatric patients who underwent cataract surgery in our centre from 2013-2018. Results: A total of 35 eyes from 23 patients were included. There were 10 (43.5%) female and 13 (56.5%) male patients. Twelve patients (24 eyes) had bilateral cataract while 11 patients had unilateral cataract. Sixteen (45.7%) eyes had congenital cataract, followed by ectopia lentis (n=10, 28.6%), traumatic cataract (n=8, 22.9%) and steroid induced cataract (n=1, 2.8%). Three types of intraocular lens (IOL) were implanted: which were posterior chamber IOL (n=22, 62.9%), iris claw IOL (n=12, 34.3%) and scleral-fixated IOL (n=1, 2.8%). Majority of eyes (n=28, 80%) had primary IOL implantation. Twenty-five (71.4%) eyes achieved best corrected visual acuity (BCVA) of 6/12 and better at 6 months post-IOL implantation. There was no statistically significant difference in the BCVA at 6 months post-IOL implantation among the different cataract aetiology, primary or secondary IOL implantation and types of IOL implant. Eight (22.9%) eyes developed post-operative complications, which included posterior capsular opacification (PCO) (n=6, 17.1%), IOL decentration (n=4, 11.4%) and glaucoma (n=1, 2.8%). Nineteen (82.6%) patients required glasses for visual rehabilitation. Conclusion: Majority of the paediatric cataract patients achieved BCVA of 6/12 or better at 6 months post-IOL implantation. The visual outcome among the different cataract aetiology, primary or secondary IOL implantation and types of IOL implanted were similar. PCO was the most common post-operative complication.
A retrospective study was conducted to evaluate the magnitude, clinical course and risk factors of cholestasis in surviving very low birth weight (VLBW) infants who received parenteral nutrition at the neonatal intensive care unit (NICU) of Hospital Universiti Kebangsaan Malaysia. Cholestasis was defined as direct hyperbilirubinaemia of >34 mmol/L. Between 1St July 2000 to 31St March 2001, 58 VLBW infants received parenteral nutrition (PN). Forty seven infants survived to discharge. Complete data was obtained from 43 (90.1%) infants. Thirteen (30.2%) of these infants developed cholestasis. The cholestasis persisted beyond the age of 6 weeks in 8 infants and they underwent hepato imino diacetic acid (HIDA) scan. The HIDA scan was reported as normal in 2 infants and inconclusive in 6 infants. Operative cholangiography. (OTC) was then performed in these infants and were all normal. The cholestasis finally resolved in all infants. Analysis of risk factors revealed that duration of assisted ventilation and PN and the presence of patent ductus arteriosus (PDA) had significant correlation with the development of cholestasis. These factors together with lower mean gestational age increased the likelihood of persistent cholestasis beyond 6 weeks of life in these infants. In conclusion cholestasis is common in VLBW infants who received parenteral nutrition. Although the clinical course seems benign, in a significant proportion of these infants it may persist longer and put them at increased risk of requiring invasive investigations.
This paper looks at some of the problems encountered when cases of abuse and injuries occur in children placed in child care in an urban community in Malaysia. It is based on the study of 37 children referred to our hospital's Child Protection Services over the past four years for injuries and incidents where the child-minders came under suspicion. They constituted 12% of the 285 children referred to the Child Protection Team during that period for evaluation of suspected child abuse. Twenty six children had experienced physical trauma. Fifty eight percent of these were young infants with cranial injuries or limb fractures but no history to explain their occurrence. Four had superficial injuries from accidents secondary to inadequate supervision. The other 11 children had been sexually abused. The perpetrators in 73% of cases were either the husbands or sons of the child-minder. Ninety five percent of the incidents occured at home-based nurseries. Prospects of any punitive measures were remote in most instances due to uncertainty about the perpetrator, or insufficient corroborative evidence required in sexual abuse cases. There were three documented cases where the family refused to lodge a police report or co-operate with investigations out of a reluctance to implicate or offend the child-minders who were mainly neighbours, relatives or friends in 58% of cases. Ninety seven percent of the facilities were unregistered, making surveillance for recurrent incidents and adherence to safety standards difficult. These incidents were almost certainly an underestimate of the problem. Training of child-care providers, improved legislation and enforcement as well as education of parents to choose suitable facilities are issues which need to be tackled.
Introduction: Training of all health personnel involved in paediatric care is a key determinant of successful outcome during paediatric emergencies. We aimed to identify the need for paediatric Mock Code Blue skills training among non-paediatricians in a pre-hospital setting through checklist assessment of their performance. Methods: A paediatric septic shock and cardiac arrest Mock Code Blue pre-hospital scenarios were presented for non-paediatricians during a National Clinical Skills Conference. Eight medical student assessors and four clinical facilitators were involved in this training. Participants were expected to be able to demonstrate the skills and teamwork necessary to managepaediatric emergencies according to the learning outcomes. Results: A total of 97 delegates participated in a facilitated paediatric Mock Code Blue for multidisciplinary groups of health personnel. Outcome measures showed a significant lack of communication and team work skills, and weakness in “closing the loop” as barriers to successful resuscitation. Conclusion: We recommend Mock Code Blue simulation training to be offered regularly to all groups of healthcare providers involved in paediatric and neonatal care while not overlooking the emphasis on non-technical skills.
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.
The objective of the study was to determine the prevalence of hypertension in healthy primary school children. A cross-sectional survey by manual blood pressure measurement of healthy children aged 6-12 years attending a national type school was carried out. Children with previous renal, cardiac and endocrine disorders were excluded. Korotkoff 1 represented the systolic blood pressure (SBP) and Korotkoff 5 was taken as the diastolic blood pressure (DBP). Hypertension was defined as the SBP or DBP above the 95th centile according to age group and sex regardless of ethnicity. A total of 1756 children were studied with 895 boy and 861 girls. The results showed that 109 children (6.2%) were found to have hypertension and the incidence was similar in boys and girls (6.4% vs 6.0%, p = 0.69). Fifty-three (48.6%) children had an elevated SBP and the DBP was elevated in 43 (39.4%) children. Only 12 (12.0%) children had both elevated SBP and DBP. Children found to have hypertension were more likely to be Chinese (p = 0.009) and obese (p = 0.04). In conclusion the overall prevalence of hypertension in children aged 6-12 years based on a single blood pressure measurement was 6.2%. Hypertension was more likely to be found in Chinese children and those who were obese.
Henoch – Schonlein purpura (HSP) is a vasculitis of small sized blood vessels. It is the most common acute systemic vasculitis in childhood. It mainly affects skin, gastrointestinal tract, joints and kidney. It results from Immunoglobulin A mediated inflammation. The characteristic skin findings are palpable purpuric lesions over the lower limbs and buttocks. The occurance of haemorrhagic bullae in children with HSP is rarely encountered. This case report describes a 12 year old boy with bullous haemorrhagic HSP treated at Institute Paediatric, Hospital Kuala Lumpur.
Vaccines, used appropriately and efficiently, have changed the landscape of infectious diseases. Poliomyelitis is almost completely eliminated globally. In many industrialised countries, there has been over 99 percent reduction in incidence of diphtheria, tetanus, measles, mumps, rubella, Haemophilus in-fluenzae b meningitis and over 97 percent reduction in whooping cough.',2Unlike anti-biotics, most vaccines have remained equally effective despite years of continuous usage.
Background:Recent retrospective studies suggest irrelevance of urine screening for neonate with prolonged jaundice. We re-evaluated the incidence of urinary tract infection (UTI) among these infants, their renal outcome and evaluated the cost incurred. Methods: This is a prospective cohort study. Asymptomatic, prolonged jaundiced infants with unconjugated hyperbilirubinemia were screened for evidence of UTI as per local guidelines. Infants with pyuria would have urine sent for culture and sensitivity. Unit cost was referenced from hospital purchase. Statistical analysis was performed using SPSS 24.0. Results:A total of 291 cases were analyzed. Majority were term infants (93.8%). The commonest cause of prolonged jaundice was breast milk jaundice, hence an incidence rate of 0.34%. Only one infant persistently showed single uropathogen on urinary culture with concurrent pyuria. Urinary structures were normal on ultrasonography and there was no evidence of renal cortical scarring. No recurrence of UTI documented in the first year of life. Each “clean-catch” urinalysis costed RM7. This unit cost escalated to RM37 for catheterized sample. A negative urine culture costed RM28 while a positive culture twice this price. The average cost effectiveness ratio (ACER) in this study was RM5856.56 per detection of case. Conclusion: Incidence of UTI is low. In our study, an undesirable outcome is negligible. Unnecessary parental anxiety from the potentially laborious procedure could be avoided. This study refutes previous literature to include such screening in prolonged jaundice as this may well be irrelevant.
Significant advances in perinatology and neonatology in the last decade have resulted in increased survival of extremely premature infants.' Survival rates at 25 and 26 weeks of gestation age ranging from 60% to 82% and from 75% to 93%, respectively, have been reported.' In Malaysia, the survival rates among premature very low birth weight infants (< 1500 g) were reported to be between 69% and 78%.2,3 Such improvements of survival have been attributed to the advances in the management of respiratory disease and intra-ventricular haemorrahge in the premature infants.',2 Thus, attention have recently been focused on the need to secure adequate nutrient intake of these premature infants. Parenteral nutrition has often been used to manage the transition between transplacental nutrition in-utero and post-natal enteral nutrition, but is associated with cholestasis and sepsis.4 However, the ability to deliver nutrition is limited not only by immature absorptive or digestive function but by inadequate motor activity. Gastroesophageal efflux (GER) and feeding intolerance are the major gastro-enterological problems of the premature neonates.
Dengue haemorrhagic fever (DHF) is a severe viral illness with significant morbidity and mortality especially among children in Southeast Asia. The tourniquet test is recommended by the World Health Organisation (WHO) as an initial clinical screening procedure for patients suspected to have DHF, particularly in patients with DHF grade I. The aim of this study was to evaluate the validity of the tourniquet test as a predictor of DHF and also to assess the usefulness of repeated, serial tourniquet testing as a diagnostic indicator of DHF. Individuals included into this study were children from the Institute of Paediatrics, Kuala Lumpur who were admitted on a clinical suspicion of DHF based on the WHO criteria and who had serology for Dengue IgM performed. A standard method of tourniquet was performed on these patients on a daily basis following admission. A total number of 60 patients were considered for analysis and of these the tourniquet test was positive in 50 patients and negative in the remaining 10 patients. Sensitivity of the test was found to be 85.4% and the specificity was 25%. Further assessment of the predictive value of the test showed that the positive predictive value (PPV) was 82% while the negative predictive value (NPV) was 30%. In conclusion, a positive tourniquet test, serially performed on a daily basis was found clinically to be a useful preliminary screening tool for DHF as recommended by WHO. However its specificity was low and consequently led to a high false positive rate.
Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an uncommon genetically inherited disorder characterized by distinctive skin abnormalities and a wide variety of multisystem defects which was first described by Goltz (an American dermatologist) in 1962. About 200- 300 cases have been reported worldwide. FDH can be inherited in an X-linked dominant manner with in-utero lethality in males. Majority of the cases are sporadic with new mutations arising in the embryo and not inherited from a parent. Approximately 10% of cases occur in males; postzygotic somatic mosaicism accounts for the findings in these affected males. FDH is caused by abnormalities or mutations at the PORCN gene in the X chromosome. We report a case of FDH with characteristic skin lesions as well as multiple digital anomalies - oligodactyly, syndactyly and ectrodactyly.(Copied from article)
Hepatopulmonary syndrome (HPS) is characterized by the triad of liver disease, pulmonary vascular dilatation and arterial oxygenation abnormality. It occurs in 4% to 47% in patient with liver cirrhosis [1]. We describe 2 cases of HPS with recovery from hypoxaemia after liver transplantation.(Copied from article)
Fusarium species is an emerging genus of fungal pathogens which until recently were rare causes of human disease apart from localized infection of the skin and nails. Two cases of fungaemia due to Fusarium sp. in children are described. The first child, an 8-year old girl with acute myeloid leukaemia developed character-sitic pyoderma gangrenosum-like skin lesions before succumbing to disseminated Fusarium infection and acute respiratory distress syndrome. The second child, a 5-month old boy, developed pneumonia associated with a transient erythematous skin rash while on chemother-apy for congenital leukaemia. Both patients had Fusarium isolated from blood. The second child improved after six weeks of treatment with ampho-tericin B and granulocyte-macrophage colony stimulat-ing factor but ultimately she died of the disease follow-ing discharge. Fusarium spp should be recognised as an opportunistic pathogen in immunocompromised patients. Current literature suggests that liposomal amphotericin B in conjunction with leukocyte growth factors are the treatment of choice in this potentially fatal infection.
A 46 day old female Chinese infant was referred for fail-ure to thrive, jaundice, hepatomegaly and bilateral cataracts. She had vomiting,blood stained stools and severe unconjugated hyperbilirubinaemia soon after birth. The jaundice persisted. At one month of age, pale stools, firm hepatomegaly and bilateral cataracts were noted. Radionuclide hepatobiliary scintigraphy per-formed at another hospital excluded biliary atresia. Investigations showed cholestasis but a negative sero-logical screening for congenital infections. A presump-tive diagnosis of galactosaemia was made and the infant was started on lactose free formula. A deficient red blood cell galactose- 1 -phosphate uridyltransferase (GALT) activity was demonstrated later. Review eight months after the initial diagnosis showed a thriving infant with no jaundice, but persisting cataracts and firm enlarged liver. A high index of clinical suspicion, labo-ratory confirmation of a deficient GALT activity and prompt withdrawal of lactose from diet are necessary to avoid any delay in diagnosis and management of this condition.
Lumbar puncture (LP) is an important procedure both for diagnostic and therapeutic purposes. In Kelantan, Malaysia, on many occasions consent for this procedure is not granted by patients or guardians. The aim of this study was to find out the factors that influence the decision to grant or refuse the consent for LP. This was a cross-sectional study in which 86 parents (who agreed or refused to give consent for LP on their child) were interviewed by using a standard questionnaire. A scoring system was used to assess their knowledge about the purpose and technique of the procedure. Consent for LP was granted in 23 and refused in 27 children. The refusal rate was significantly higher when family members other than parents made the decision. The factors which did not play a statistically significant role in decision-making included: age of the child and parents; gender of the patient; number of children in the family; patient's birth order among the siblings; place of residence; monthly income of the family; parents' level of education; and number of days after admission when LP was requested. The factors that positively influenced the decision to give consent included knowledge about the purpose of LP and underlying disease. In order to receive positive consent for LP it is concluded that the parents/guardians and other family members who may influence the decision-making should be explained the role of LP in (1) making diagnosis and (2) choosing right antibiotics for treatment. They should also be informed about the side-effects of antibiotics, which may be used unnecessarily in unconfirmed cases of central nervous system infections.
The problem-based learning (PBL) curriculum, which originated primarily from the Faculty of Health Sciences at McMaster University in 1969, has had a major impact on the thinking and practice in medical education. It is one of the most important developments in the health profession's education in the latter part of the twentieth century) The PBL process incorpo-rates fundamental educational principles such as those derived from adult learning theory' and this gives the PBL approach a greater effective-ness for the acquisition of basic knowledge and clinical skills.
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.