Almost all mediastinal teratomas are found in the anterior mediastinum. We describe a case of a 41-day-old baby girl who had teratoma in the posterior mediastinum. She presented at the age of 6 days with the problem of progressive jaundice and was found to have septicaemia. During septic screening, chest X-ray revealed a mass in the right mediastinum. Ultrasound and CT-scan of the chest showed a multiloculated mass at the right posterior mediastinum. Fine needle aspiration biopsy of the mass confirmed a teratoma.
Study site: Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia
A prospective study was carried out in the Maternity Hospital, Kuala Lumpur over a 2-year period. During this time, 52,379 deliveries took place. 36 neonates (0.7 per 1000 births) were found to have congenital dislocation of the hips (CDH) by both the Ortolani and Barlow's manoeuvre. CDH was most common in the females (female to male ratio was 2.3:1), the first borns (50% of the affected cases) and babies who had breech delivery (10.7 per 1000 births). In 21 (58.3%) of the affected neonates, CDH occurred in both hips. According to the classification of newborn infants' hips by Finlay et al, 88.9% of the neonates had unstable hips while 8.3% had pathological hips. Family history of CDH was present in 5% of the patients. 8 (22.2%) of the neonates had other associated congenital abnormalities.
Matched MeSH terms: Hip Dislocation, Congenital/ethnology; Hip Dislocation, Congenital/epidemiology*
Two cases of enteroumbilical fistula presenting in the neonatal period are reported. Both developed complications which required surgical intervention. A brief discussion on clinical features and management follows.
Infantile or developmental coxa vara is a relatively infrequent localised dysplasia of unknown etiology which usually presents in the second or third year of life soon after the child begins walking. The clinical and radiological picture is usually characteristic especially when seen early. Early surgery leads to a satisfactory outcome. However, difficulty arises in diagnosis and treatment when patients present late, three cases diagnosed in adolescence at the University Hospital, Kuala Lumpur over the last 10 years are presented to increase awareness of this condition, which may be underdiagnosed, and the difficulties in diagnosis and treatment with late presentation are stressed.
Matched MeSH terms: Hip Dislocation, Congenital/radiography*; Hip Dislocation, Congenital/surgery
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.
Congenital leukaemia (CL) is a rare malignancy that accounts for < 1% of cases of childhood leukaemias. Leukaemia cutis (LC) refers to cutaneous infiltration with leukaemic cells, and is seen in 30-50% of CL cases. It may precede, follow or occur simultaneously with leukaemia. If left untreated, the prognosis is usually poor, but early diagnosis and treatment may result in a favourable prognosis. We report a case of congenital leukaemia cutis with a progressive, violaceous papulonodular eruption (a 'blueberry muffin' rash), which had been noted at birth, as a presenting sign of acute myeloid leukaemia (AML), which on investigation was classified as AML, FAB M2 type with a t(8; 21)(p11;q22) chromosomal defect. The patient had a favourable response to AML chemotherapy.
Iris mammillations are dark brown, smooth, mound- or dome-shaped protuberances that are typically found on the anterior iris surface and are presumed to be congenital in origin. This congenital anomaly is usually unilateral and can be hereditary or sporadic. Lisch nodules in neurofibromatosis, tapioca melanoma of the iris, inflammatory iris granulomata and Cogan-Reese syndrome should be considered in the differential diagnosis. In this case report, the authors present a case of a bilateral iris mammillations in two siblings with congenital adrenal hyperplasia (CAH). To our knowledge, this is the first case where bilateral iris mammilations have been found to be associated with a systemic condition. Iris mammillations can be considered as one of the clinical signs in CAH in view of the pathogenesis discussed. Detailed ocular examination in CAH may reveal an increased incidence.
An eight-week-old infant presented with dyspnoea two months after an uneventful normal vaginal delivery. Radiologically, a sharply outlined radiolucent area surrounded by atelectasis was seen in the upper lobe of the left lung. A left upper lobectomy was performed with the clinical impression of congenital pulmonary emphysema. The resected specimen displayed multiple cysts 2 to 6 mm in diameter. Microscopically, intracystic papillary mesenchymal ingrowths lined by respiratory epithelium were present. Based on both the gross and microscopical features, a diagnosis of Fisher's variant of type II congenital cystic adenomatoid malformation (CAM) was made. The postoperative follow-up showed excellent recovery and normal development of the child.
Matched MeSH terms: Pulmonary Emphysema/congenital; Cystic Adenomatoid Malformation of Lung, Congenital/pathology*; Cystic Adenomatoid Malformation of Lung, Congenital/radiography; Cystic Adenomatoid Malformation of Lung, Congenital/surgery
Gastrointestinal pathology leading to the death in paediatric age group is uncommon. The diseases that encountered were mostly intestinal obstruction, peritonitis and gastrointestinal bleeding. Due to the severe symptoms, most of the patients presented to hospital in time and were treated appropriately. However, with the presence of contributing factors, certain gastrointestinal pathology can progress rapidly leading to the death. We report a rare case of intestinal volvulus in a 3 years old girl where the deceased presented with one day short history of vomiting before her demise. The contributing factors were bronchopneumonia sepsis and underlying intestinal malrotation identified via post-mortem examination.
During the period 1 January 1990-31 December 1990, 68 neonates with congenital abnormalities were successfully analysed for chromosome abnormalities in order to determine the contribution of chromosome aberrations to the aetiology of congenital abnormalities. The neonates were karyotyped employing the G-banding technique. Twenty-nine babies showed abnormal chromosome karyotypes. Twenty-six were observed to have classic trisomy syndromes; ie. trisomy 21 (32.3%), trisomy 18 (3.0%), and trisomy 13 (3.0%). The mean maternal age of the mothers with babies having normal karyotype was lower than the mean maternal age of the mothers having babies with abnormal karyotypes. From this study the incidence of congenital abnormalities due to chromosomal abnormalities is found to be 1:838 livebirths. Frequency of newborns having abnormal chromosomes is 0.14% for Malays, 0.12% for Chinese and 0.06% for Indians.
A thirty six week gestation male baby weighing three kilogram was born to a twenty five year old mother by spontaneous vaginal delivery. At four hours of life, the baby developed respiratory distress with cyanosis and was admitted to the neonatal intensive care unit. There was clinical and radiological evidence of bilateral pleural effusion. Thoracentesis revealed a transudate. Repeated thoracentesis was necessary to relieve the respiratory distress. Subsequently, multi resistant Klebsiella aerogenes was isolated from the blood. The baby expired due to gram negative sepsis.
Achondrogenesis is a lethal neonatal chondrodysplasia with extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. The affected neonates are usually delivered prematurely, and are stillborn or die soon after birth. Polyhydramnios is frequently present. It is an inherited autosomal recessive disease. The radiographic features are diagnostic.
The problems of pediatric cardiology in Asia can be summarized as follows. In the countries like India, Indonesia, Malaysia, Pakistan and some other countries especially with government support like Thailand, the priority is primary health care. Except in Japan, cardiac care for children is not well supported financially. Training in pediatric cardiology is not readily available. Consequently small numbers of pediatric cardiologists, pediatric cardiac surgeons and active centres are available even in Japan. It is importannt to reduce the incidence of rheumatic fever and rheumatic heart disease by prevention of streptococcal infections and to increase the standard of living and environment. Transportation and referral system diagnosis, and treatment and follow-up is a special problem in neonatal care in relation to heart disease. Concentration of physicians, medical schools and cardiac centers in urban areas, old customs and poor understanding of people about the treatability and preventability of heart diseases in children complicate the improvement in the management of children with heart diseases.
Over a seven month period in 1986, 164 (1.1%) of a total 15,131 neonates delivered in the Maternity Hospital, Kuala Lumpur were born to mothers with prolonged rupture of the fetal membranes. Septic work-ups were performed on 163 of these babies shortly after birth, 77 of them had no bacteriological, radiological or other clinical evidence of infection. The remaining 86 had additional history of illness. Nine of these 86 babies had proven infection: four with septicemia, one with meningitis and four others with congenital pneumonia. This study showed that neonates had risk of infection only when maternal history of prolonged rupture of the fetal membranes was associated with other clinical evidence of infection. However, even in this group of neonates at risk, 89.5% of them were not infected. Therefore, there is still a need to develop a simple, rapid, reliable and cheap laboratory method to help early identification of the infected from the non-infected neonates in order to prevent unnecessary antibiotic treatment and hospital stay.
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.