Neonatal malaria may be overlooked likely due to its non-specific features and low prevalence in Malaysia. In this case report, we detail a case of neonatal malaria in an 18-day old baby girl of Myanmar origin who presented with 6 days of intermittent fever but was otherwise well. Initially, she was treated as neonatal sepsis. She then developed thrombocytopaenia and severe anaemia with persistent spikes of temperature. This prompted a series of investigations and multiple changes of antibiotics. The diagnosis of neonatal malaria surfaced when her peripheral blood film incidentally revealed the presence of Plasmodium vivax parasites. Peripheral blood smears are simple and inexpensive. Therefore practising especially in endemic areas for malaria, we need to consider this diagnosis when dealing with neonatal sepsis that does not respond to standard treatment.
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.
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.
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)
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.
Objective: The present study examined the sensitivity and specificity of M-CHAT-Malay version [M-CHAT(MV)] to discriminate ASD from other developmental-behavioural disorders. Methods: This study was carried out in the Child Development Centre at a tertiary referral centre. Parents of 130 children aged 18–60 months, referred for developmental-behavioural disorders were asked to complete M-CHAT(MV). A child was considered to have ASD ifthey failed any 3 of the 23 total items or 2 or more of the 6 critical items. Results: Looking at the total items, M-CHAT(MV) has a good sensitivity (88.9%) to differentiate between ASD and other developmental-behavioural disorders, although specificity was only 47.8%. However, the critical items only has sensitivity of 71.4% and specificity of 77.6%. Sensitivity for children aged 49–60 months old was lower (80.0%) compared to those in the younger age group (100.0% and 90.3% for those aged 25-36 months and 37–48 months respectively). Based on the ROC curve, the optimal criteria to detect ASD was failing 1 out of 6 critical items or 3 out of 23 total items. Conclusion: M-CHAT(MV) is a good screening tool in differentiating ASD from other developmental-behavioural disorders although the critical items’ criteria may need to be lowered to improve its sensitivity in selected cohorts.
Objective: To study the demographic, clinical features, management and outcome of neonatal tetanus treated at Tawau Hospital.
Method: A retrospective study of neonatal tetanus admitted to a district hospital in Sabah was conducted.
Results: In 2015, the hospital handled 18 cases of babies with neonatal tetanus in the Tawau Hospital. This implies an occurrence of 1.5 cases per month. All the mothers were non-citizens and did not have any proper antenatal follow up. All the tetanus babies required invasive mechanical ventilation with a median of 20 days (range, 5 to 32 days). The survival rate was 94.4%.
Conclusion: Despite the promotion of maternal and childhood vaccination along with hygienic practices of delivery, neonatal tetanus still remains a threat to babies born in Sabah.
A study was conducted to evaluate the extent of sleep problems among children aged between 6 to 15 years old who were followed up at Penang Hospital Paediatric Clinic for various neurological disorders and compared to those with other paediatric illnesses and their healthy siblings. A parental questionnaire was used to assess sleep problems in 48 children with neurological disorders and compared to 46 of their healthy siblings, 59 children with non-neurological paediatric illnesses and 67 of their healthy siblings. Sleep problems were clustered into five subscales: bedtime difficulties, parental involvement at time of sleep, sleep fragmentation, parasomnias and daytime drowsiness. Children with neurological disorders had significantly more sleep problems than did their siblings, those with non-neurological paediatric illnesses and their healthy siblings (p < 0.001). This was particularly so in areas of bedtime difficulties (p>0.001), the amount of parental involvement (p
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.
Objective: This study assessed the pattern of clinical course of hematological disorders in children diagnosed by bone marrow aspiration/biopsy in a tertiary care centre. Setting: The study was conducted at the Department of Pediatrics, Lahore General Hospital, Pakistan. Design: A retrospective descriptive study. Duration of study: Jan 2006 to Dec 2010. Methods: The clinical and laboratory data of 250 patients including complete history, physical examination, investigations and bone marrow examination reports were collected and then analyzed retrospectively. On the basis of these data, relative frequency of different hematological disorders was determined. Results: A total of 250 patients were selected during this study period where their bone marrow was sent for the investigations. Out of these cases, double deficiency anemia was the commonest diagnosis (22%) followed by aplastic anemia (13.6%), megaloblastic anemia (13.2%) and iron deficiency anemia (5.6%). For hematological malignancies, acute lymphoblastic leukemia (ALL) was observed in 27 cases (10.8%) followed by acute myeloid leukemia (AML) in 12 cases (4.8%), lymphoma in 8 cases (3.2%) and chronic myeloid leukemia (CML) in only two cases. Idiopathic thrombocytopenic purpura (ITP) was reported as frequent as 13.2% (33 cases). Conclusion: The pattern of non malignant hematological disorders in children diagnosed by bone marrow aspiration/biopsy was more common than malignant conditions. Double deficiency anemia was the commonest non malignant condition followed by aplastic anemia, idiopathic thrombocytopenic purpura and megaloblastic anemia. ALL was the most common presentation of the hematological malignancy.
Progression to AIDS is more rapid in HIV-infected children. Objective: Our study aimed to investigate the effect of HIV status disclosure in children in terms of their perception of the illness, knowledge on their disease and medications and the overall impact on their quality of life.
Methods: A qualitative study was conducted from 1st June 2017 till 8th September 2017 involving face-to-face interviews with HIV-positive children receiving combination anti-retroviral therapy (cART) under paediatric HIV clinic follow-up, Hospital Tuanku Fauziah, Kangar, Perlis. Transcribed interview dialogues were subsequently coded for analysis.
Results: Data were collected from 6 out of 8 HIV-positive children on cART in Hospital Tuanku Fauziah, Perlis. Participants’ mean age was 12.2 years (standard deviation [SD] 2.11); 3 with disease disclosure. Disease-disclosed participants with ironically poor knowledge on their disease emerged as the key theme in the study. Disease-disclosed participants were also noted to be more withdrawn with very few friends, if any. Disease disclosure status did not affect the patients’ knowledge and compliance to medication.
Conclusion: Assessment of patients’ understanding after disease-disclosure session is crucial to encourage therapy adherence and prevention of future transmission. Re-appraisal of the healthcare policy with regards to holistic management of children living with HIV is warranted to attain positive social and developmental goal throughout their lives.
Study site: paediatric HIV clinic follow-up, Hospital Tuanku Fauziah, Kangar, Perlis
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)
Lymphangiomas are hamartomatous congenital malformations of the lymphatic system that usually involve subcutaneous tissues of cervico-facial region. Rarely, it can be found in subcutaneous tissue of proximal extremities, the buttocks and the trunk. Magnetic Resonance Imaging (MRI) is the best modality to assess the tumor specification and extension. We report a case of lymphangioma at a rare site with its radiological features and patient responsed to the sclerosant therapy.
Objective: Lead toxicity constitutes a major environmental risk to health in both animals and humans of all ages. It is more severe in young children than adults. Blood transfusion is an important source of lead exposure and may predispose premature infants to lead toxicity. Thalassaemia is common in Malaysia and majority of patients require frequent blood transfusion. The objective of this study was to determine whether regular blood transfusion contributed to high blood lead levels in paediatric thalassaemic patients.
Method: This was a cross sectional study conducted at the Paediatric Thalassaemia Day Care Unit, General Paediatric Ward and Paediatric Clinic in Hospital Universiti Sains Malaysia (HUSM). A total of 90 patients were included, 45 were thalassaemic transfusion dependant patients and the other 45 were control, who were of the same age and sex with patients group and had never been transfused. The blood samples were taken preand post-transfusion for thalassaemic and control groups. Blood lead levels were analyzed using standard Atomic Absorption Spectrometer (AAS) analysis.
Results: The overall mean plasma lead levels (2.13 + 1.72µg/dL) were lower than those of standard CDC recommendations. The independent t-test showed that plasma lead levels in thalassaemic group were significantly (p < 0.05) lower than the levels in controls. However, the ANCOVA analysis revealed the plasma lead levels were not significantly (p > 0.05) different between the two groups. Thus, suggesting that the reduced plasma lead level in thalassaemic group was due to the administration of iron chelators. Increased frequency of blood transfusion also did not significantly (p > 0.05) increase plasma ferritin or lead levels in thalassaemic patients.
Conclusion: This study shows that transfusion dependent thalassaemic infants have comparable plasma lead levels to those of age- and sex-matched controls, after taking into consideration the administration of iron chelators.
Study site: Paediatric Thalassaemia Day Care Unit, General Paediatric Ward and Paediatric Clinic in Hospital Universiti Sains Malaysia (HUSM)
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.
Respiratory papillomatosis is a disease of viral origin which is characterized by warty exophytic lesions in the aerodigestive tract. It is the most common benign lesion of larynx and the second most common cause of hoarseness in children. It has the tendency to recur and to spread through out the entire length of the aerodigestive tract. Although a benign disease, it has the potential of morbid consequences in view of airway complications and the risk of malignant transformation. We report a case of juvenile onset of respiratory papillomatosis and its therapeutic challenges.
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.