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.
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.
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
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.
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*
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
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.
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 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.
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.