Congenital heart disease (CHD) is the result of a complicated interplay between genetic and non-genetic, or “environmental,” factors acting on the foetus and one of those environmental factors is maternal hyperglycemia. Maternal diabetes has teratogenic effects on the evolution of the foetal cardiovascular system; as a consequence, cardiovascular malformations are the most common anomalies in infants of diabetic mothers with transposition of the great arteries, tricuspid atresia and truncus arteriosus being some of the common cardiac malformations encountered. Thus, it is important to perform a detailed heart examination at autopsy of perinatal deaths in order to ascertain related anomalies. We present a case of stillbirth in a woman with Type 1 Diabetes mellitus on insulin therapy who claims she was unaware about her pregnancy.
Thoracoschisis is a rare congenital malformation characterized by herniation of the abdominal content through a defect in the thorax. There are previously 12 reported cases, most discussing the postnatal findings and management. Here we describe a case of left thoracoschisis with associated upper limb abnormality which was diagnosed antenatally with the aid of 3D ultrasound.
Congenital leukaemia which is characterised by proliferation and extrahaemopoietic infiltration of immature leucocyte precursor cells is a rare disorder encountered in the neonatal period. Although more than 100 cases of congenital leukaemia have been reported in the literature, the experience of most general paediatricians with this condition is very likely to be limited. Thus a patient presenting with congenital leukaemia admitted to Alor Star General Hospital is reported.
Cerebral aneurysm is an exceedingly rare aetiology of neonatal Subarachnoid Haemorrhage (SAH). Detailed history and pattern recognition of the SAH is crucial in suspecting aneurysm.
A previous cross-sectional serological survey of various age groups (0-55 years) of the Malaysian normal population showed that cytomegalovirus (CMV) infection is highly endemic in Malaysia. A total of 1,688 infants (0-4 months) with congenital abnormalities were screened for evidence of congenital CMV infection and the rest of the TORCHES (TOxoplasmosis, Rubella, Cytomegalovirus, HErpes simplex, Syphilis) group of congenital infections. Congenital CMV infection was detected in 193 (11.4%) infants which is significantly higher than the prevalence of congenital syphilis (4%), congenital rubella infection (3.7%), congenital toxoplasma (1.0%) and congenital herpes simplex virus infection (0%). Of the 193 cases, 10.4 per cent had CNS defects. We concluded that 1) congenital CMV appears to be the most important cause of congenital infections among the TORCHES diseases in Malaysia; and 2) secondary rather than primary infections or reactivation is responsible for most of the intrauterine CMV infection in Malaysia, as primary infection is usually associated with neurological involvement.
An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.
Between January 1985 and June 1992, the Paediatric Department of Hospital Universiti Sains Malaysia has diagnosed congenital dyserythropoietic anaemia in three children, two of whom were siblings. The age of onset ranged from 1 to 3 years. All of them became transfusion-dependent before the age of 4 months. One of them was successfully treated with bone marrow transplantation.
Diplopodia is a rare congenital disorder that has not been extensively discussed in textbooks, and case reports appear to be the main source of information. Although the exact cause of diplopodia remains unknown, the presence of extra digits as well as metatarsals and tarsals allows it to be differentiated from pedal polydactyly. Syndactyly refers to the congenital fusion of the digits. Concomitant bilateral syndactyly and diplopodia is extremely unusual, and in this report we describe a case of right diplopodia and left polydactyly combined with bilateral manual syndactyly in a 15-year-old girl who was ultimately treated with through-the-knee amputation. Radiological examination of the right leg revealed tibial hypoplasia and the right foot displayed 8 digits with corresponding metatarsals and tarsals, whereas the left leg revealed 2 extra digits on the medial aspect of the foot with corresponding metatarsal and tarsal bones. Anatomical dissection of the right foot revealed that it was divided into halves consisting of 8 toes with corresponding metatarsals and tarsals, as well as tibial hypoplasia and absence of the great toe. Diplopodia associated with tibial hypoplasia and syndactyly can be treated surgically, and the present case report details the clinical, radiological, and anatomical elements of this rare deformity.
Matched MeSH terms: Foot Deformities, Congenital/pathology; Foot Deformities, Congenital/surgery*; Hand Deformities, Congenital/pathology; Hand Deformities, Congenital/surgery
This prospective, descriptive study was carried out to determine the pattern and the type of congenital heart disease seen in the Paediatric Departments in 4 government hospitals. The accessibility of surgical or transcatheter interventional treatment was also assessed. Consecutive new patients seen for suspected congenital heart disease from 1/1/95 till 31/12/95 (Group I) were registered. Records of patients seen from 1/1/95 to 31/8/95 (Group Ia) were reviewed 6 months after presentation to determine the nature of treatment received. Group II were cardiac patients who were first seen prior to the year 1995 and had undergone cardiac surgery or transcatheter interventional procedures in 1995. Of the 375 patients registered in the 4 hospitals, 250 were new patients and 125 were patients first seen prior to 1995 and had surgery or transcatheter interventional procedures in 1995. Of the 250 new patients, 83.2% had acyanotic cardiac lesions and 16.8% had cyanotic lesions. Ventricular septal defect was the commonest lesion, constituting 37.2%, followed by patent arterial duct (18.8%) and atrial septal defects (9.6%). At 6 month review, access to close-heart surgery or transcatheter interventional treatment were readily available. However, for patients with ventricular septal defects, 42.1% who required closure were still waiting for surgery 6 months after presentation. Of the 4 patients with Fallot's Tetralogy who required surgery, 2 had modified Blalock-Taussig shunt and 2 were awaiting surgery. In 1995, a total of 204 cardiac procedures were performed, there were 114 (55.9%) open heart procedures, 50 (24.5%) surgical ligation of the arterial duct, 28 (13.7%) modified Blalock-Taussig shunts, 11 (5.4%) transcatheter duct occlusion and 1 (0.5%) balloon valvuloplasty. The mean age of Fallot's Tetralogy repair was 6.4 years. No corrective surgery was performed for patients with complex cardiac lesions from the 4 hospitals in 1995. In conclusion, the pattern of congenital heart disease was similar to that seen world wide. Except for patent arterial duct, access to surgical treatment was inadequate.