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.
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.
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.
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.
Valproic acid or valproate is a well-recognized potent teratogen. Antenatal exposure to this drug can cause fetal valproate syndrome (FVS), which is a constellation of distinctive dysmorphic features and congenital malformations. Despite an abundance of reports and registries about this syndrome, there is lack of information from Russia, in particular, the Republic of Crimea. We herein describe two cases of FVS from our registry.
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.
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
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.
Congenital bilateral agenesis of the tibialis anterior muscles is a rare condition. We present a case of congenital absence of bilateral tibialis anterior muscles in a 6-year-old boy who presented with an abnormal gait. He was previously diagnosed to have bilateral congenital talipes equinovarus (CTEV) deformity for which he underwent corrective surgery two times. However, he still had a residual foot problem and claimed to have difficulty in walking. On examination, he walked with a high stepping gait and muscle power of both lower limbs was 5/5 on the medical research council scale (MRCS) except for both ankle dorsiflexors and long toe extensors. The sensation was intact. Magnetic Resonance Imaging (MRI) study of both legs revealed that tibialis anterior muscles were not visualized on both sides suggestive of agenesis of the tibialis anterior muscles. The rest of the muscles appeared mildly atrophied. The electrophysiological study showed normal motor and sensory conduction in both upper and lower limbs. Electromyographic (EMG) study of the vastus medialis was within normal limit and no response could be elicited for EMG of tibialis anterior muscles suggesting possible absence of tibialis anterior muscles, bilaterally. The patient underwent split tibialis posterior tendon transfer to achieve a balanced and functional foot and was well on discharge. The present case describes the normal anatomy and embryology of tibialis anterior muscles as well as possible causes of its agenesis along with its clinical implications.