A six-year-old boy, a known case of acute lymphoblastic leukaemia (ALL) on remission since 1991 presented with leukocoria and poor vision of the left eye for two days' duration. Examination revealed endophthalmitis in the left eye with raised intraocular pressure. Anterior chamber paracentesis with vitreous biopsy confirmed a diagnosis of ocular involvement. Further investigation revealed that he also had bone marrow and central nervous system relapse. Clinical manifestation and treatment modalities of ocular involvement in leukaemia are discussed.
A patient with a cervical aortic arch associated with a coarctation of the aortic arch and a Tetralogy of Fallot presented to the General Hospital, Kuala Lumpur.
A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.
Over an 18 month period, 34,522 livebirths were delivered in the Maternity Hospital, Kuala Lumpur. 36 of them had Down's Syndrome. Based on our findings, the incidence of Down's syndrome among the Malaysian babies born in this hospital was 1:959 livebirths. According to racial distributions, the incidence among Malay was 1:981 livebirths, Chinese 1:940 livebirths, and Indian 1:860 livebirths. Our incidence was lower than those from the Western populations. Unlike others' studies, there was also a female preponderance of Down's syndrome among the Malaysian babies.
Platelet transfusions are indicated in a wide variety of clinical conditions especially those with thrombocytopenia. However, without proper clinical practice guidelines, inappropriate transfusions are bound to happen. To ascertain the provision of a quality and appropriate practice of platelet transfusions, an audit study was carried out over a period of one month at the Paediatric Institute, Kuala Lumpur Hospital. A prospective audit was performed during that period whilst a retrospective collection of data was carried out for the previous month for comparison. Based on a set of criteria agreed upon by the audit committee, it was found that in 18.5% (22 of 119) of the cases, the indications for platelet transfusions were inappropriate. The audit committee concluded that there is a need for a more detailed clinical practice guideline for local use to reduce or lower the incidence of inappropriate transfusions of platelets.
A six year old Chinese boy with relapsed Acute Promyelocytic Leukaemia (APML) failed to respond to reinduction with Daunorubicin and Cytarabine infusion. He was successfully treated with all trans-Retinoic Acid (45 mg/m2/day) orally. After four weeks of treatment, he was in complete remission. The side effects of all trans-Retinoic Acid were negligible.
Over an 18 month period, 34,495 livebirths were delivered in the Kuala Lumpur Maternity Hospital. 36 neonates (1.044 per 1000 livebirths) had Down's syndrome. The observed rates of Down's syndrome per 1000 livebirths by single year intervals of maternal age were calculated. By using the discontinuous slope model, our study showed that the incidence of Down's syndrome among the Malaysian liveborns increased markedly when the maternal age exceeded 35 years. This study also suggested that the Malay mothers had increased risk of producing babies with Down's syndrome at a later age than the Chinese and the Indians. However, a larger number of babies in each racial group needs to be studied to confirm this.
Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice junctions. We report the first homozygous mutation in RECQ4 helicase: 2746-2756-delTGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. We report also a 5321 G-->A transition in exon 17 and the updated list of the RECQ4 gene mutations.