A case of classical congenital diaphragmatic hernia is discussed. The rare right-sided classical type - incidence of 1 in 30,000 to 1 in 81,000 live births - and diaphragmatic eventration are often grouped together as Congenital Diaphragmatic Herniae. We had nine in 57,783 live births in ten years.
The IgM-globulin levels were determined for 5,167 cord-sera of apparently normal infants and 281 sera of defective infants aged 4 months and younger. The significant level for IgM-globulin in neonates was found to be 20 mgm/dl (2 SD above mean of the normal) above which the level was regarded as abnormally raised. Significant levels of IgM-globulin were found in 0.2% (11/5, 167) ofnormal neonates and in 40.6% (114/281) of defective infants which is more than 200 times the normal value. Combining the normal and abnormal rates, an overall figure of 23 intrauterine infections per 1,000 live births were obtained for Malaysia. The advantages and disadvantages of the use of serum IgM-globulin elevations for the diagnosis of intrauterine infections were discussed.
This study examined the trend of major congenital anomalies (CA) in the state of Penang using the ICD 10 database from 1999 to 2004. The data was collected from various health centres and hospitals. The aim was to study the magnitude of the problem for congenital anomalies in the state of Penang in terms of trends and also to calculate the incidence rate by districts. If a trend was noticed, this in turn will determine whether to carry out further in-depth studies in the future and to find out the linkages to the environment if any.
A term newborn infant developed hypovolaemic shock shortly after birth. She was pale with gross hepatomegaly. She required multiple boluses of intravenous fluids, blood products as well as inotropic support. Blood investigations showed persistent thrombocytopenia, anaemia and disseminated intravascular coagulopathy (DIC). She also developed heart failure. She finally succumbed on the eleventh day of life. Autopsy revealed haemangiomatosis involving the liver, lungs, gastrointestinal tract, kidneys and adrenals.
Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytomatous pattern. A male infant with multiple lesions involving the subcutaneous tissue and bone from birth is described and followed-up for two years. Treatment of IMF is dependent on the location of the tumour/s with surgery or chemotherapy reserved for rapidly progressive or symptomatic disease. However, due to the low rate of recurrence and the possibility of spontaneous tumoral regression, therapeutic abstention, as practised in our patient, is justified.
The incidence of congenital dislocation of the hip (CDH) in Singapore and Malaysia has been reported as being lower than in the West. In our hospital, we have seen an increasing number of congenital hip dislocation as well as dysplastic hips. We undertook a prospective study from December 1989 to December 1994 of 20,000 live births. The neonates were all screened by a consultant neonatologist and the findings were confirmed by a consultant paediatric orthopaedic surgeon. All babies had plain X-rays at 3 months and an acetabular index (AI) of 30 degrees or more was considered dysplastic. All babies with positive signs were followed up for 1 year and again had radiographs taken at 1 year. Comparison of plain X-rays and ultrasound assessment in a subgroup of 130 neonates showed that 64% of patients with AI > 20 degrees had hip dysplasia by ultrasonographic (alpha angle < 60 degrees) The incidence of dysplastic hips was 16.8 per 1000 live births. The overall incidence of neonates with dislocated hips was 4.7 per 1000 live births. The Malays were most affected with an incidence of 5.4 per 1000 live births. The incidence of developmental dysplasia of the hip in Singapore is higher than previously reported, with the Malays having the highest incidence. A significant number of babies with clicking hips have radiological evidence of acetabular dysplasia (AI > 30 degrees). One-third of the babies' hips were still dysplastic at 1 year of age. A well-organised screening programme with experienced examiners has proved to be useful in making early and accurate clinical diagnosis.
Matched MeSH terms: Hip Dislocation, Congenital/diagnosis; Hip Dislocation, Congenital/epidemiology*; Hip Dislocation, Congenital/prevention & control
We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.
Between February 1990 and May 1993, 13 cases of early congenital syphilis (ECS) were managed in the Paediatrics Unit, University Hospital, Kuala Lumpur. Twelve mothers were unbooked with 10 inborn babies. Only one mother had antenatal booking at this hospital but she defaulted antenatal follow-up. Several risk factors associated with ECS were identified: inadequate or no prenatal care (5/13), failure to repeat a serological test for syphilis in the third trimester when it was tested negative at first booking (5/13), sexual promiscuity, substance abuse and a past history of contracting sexually transmitted disease. All 10 mothers who had their serological test repeated at delivery were found to have a positive VDRL and TPHA. Adequate antenatal care early referral of infected, expectant mothers for treatment, and a repeat serological test for syphilis could have prevented these cases of ECS.
The prevalence of ocular abnormalities was studied in 165 children from a Malaysian school for the deaf. Ninety-five children (57.6%) had one or more ocular abnormalities. Rubella retinopathy was the commonest form of ocular abnormality (35.2%). Refractive errors were found in 23 children (13.9%). Refractive errors in the rubella group were significantly more common than in the non-rubella group of deaf children (p < 0.001) (chi 2 test). Thirteen children had congenital anomalies causing significantly impaired vision. Ophthalmological examination of deaf children helps in the detection of cases with rubella eye signs and thus helps to identify the cause of deafness. Since deaf children are at greater risk of visual and ocular abnormalities, periodical ophthalmological examination should be carried out in these children.
One hundred and sixty-five children from the school for the deaf were screened to find out the aetiology of deafness. The screening included routine ophthalmological examination. Aetiology was unknown in 33 children (20%). Prenatal infection was found to be the cause of deafness in 61 cases (36.96%). Rubella eye signs were found in 59 children (35.76%), whereas the history of rubella infection during the first trimester of pregnancy was found in only 33 of these cases (55.93%). Perinatal complications were seen in 20 children (12.12%). Twenty children (12.12%) had meningitis during their early childhood period. Routine ophthalmological examination helped us to pick up cases with rubella eye signs. Ophthalmological examination should be included as part of any study done to find out the cause of deafness.
Consideration. is gzven to the recognition and prevention of carious types of mental retardation due to hazards of environmental origin. Observations are presented on congenital syphilis, congenital toxoplasmosis, congenital rubella, Singapore kernicterus, Japanese B encephalitis, and tuberculous meningitis. Appropriate preventiue measures have resulted in a significant reduction in Singapore of these conditions, and hence in a decreased frequency of environmentally determined mental retardation. and related disabilities.
A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extremely rare for a person to have both external and inner ear anomaly because of the different embryological origin. The only suitable hearing rehabilitation option for this kind of patients is brainstem implant. However, the parents had opted for sign language as a form of communication.
A 3-year-old child presented with congenital bilateral facial nerve palsy with bilateral profound sensorineural hearing loss. High Resolution Computed Tomogram (HRCT) of the temporal bones found bilateral atresia of cochlear nerve canals, incomplete partition of the cochleae and narrow facial nerve canals. Magnetic resonance imaging (MRI) revealed bilateral hypoplasia of facial nerves and aplasia of both vestibulocochlear nerves. There have been no other reported cases with this presentation. The possible aetiology and treatment options for the patient are discussed. We highlighted the review of aplasia/hypoplasia of the facial nerve and hypoplasia of cochlear nerve canal.