Edwards Syndrome In A Neonate From A Developing Country; Reasons For Concern: A Case Report

摘要

We report the case of a baby boy who was brought by the parents to a Nigerian teaching hospital on the 4th day of life. He had multiple congenital anomalies, the features of which were consistent with Edwards syndrome. The challenges of managing such a child are hereby discussed. Introduction Edwards syndrome is the second most common trisomy. It has been reported as very rare among Nigerians. A previous study reported a prevalence figure of 0.08 per 1000 live births. 1 The outcome is usually fatal, even in the best of centres. We report the case of a four-day-old neonate with clinical features consistent with Edwards syndrome who was managed at the special care baby unit of the Ladoke Akintola University of Technology Teaching Hospital, Osogbo, South western Nigeria. The parents unexpectedly, requested for discharge against medical advice after 20 hours of hospitalisation. The aim of this article is to highlight the challenges associated with managing the child, the parents and the problems posed by the Nigerian health care system. Case Report AB, a four-day-old male baby, was delivered on 1st of April 2006, at a rural local government primary health centre, approximately 30 kilometres from the State Hospital, Osogbo. The staff nurses on duty at the health centre took the delivery of the baby and immediately advised the parents to take the baby to the Ladoke Akintola University of Technology Teaching Hospital, Osogbo. They did not write a letter because they felt that the grotesque anatomical features of the baby would cause immediate social and management problems and that such a baby needed immediate transfer from that location, to a teaching hospital centre. The parents however felt there was no immediate life threatening danger and so presented on the fourth day of life.The mother a 27-year-old petty trader, booked at the antenatal clinic at an estimated gestational age of 3 months. There was no previous history of abortion. Attendances at the antenatal clinics were good and all consultations were with nurses. Pregnancy was not adversely eventful and there was no history suggestive of infections, exposure to radiations or use of any other drugs apart from the prescribed routine haematinics. There was no history suggestive of polyhadraminos and uterine ultrasound of the foetus was not done. Labour and delivery were normal and the baby breathed and cried immediately.The parents of the baby are muslims in a monogamous family setting. The father is a 35-year-old automobile spare part-seller; studying physics in a teachers' college, while the mother is a 27-year-old senior secondary schools drop out. The patient has three elder siblings, aged 8, 6, and 3 years who are all well, and have no similar disease history. On examination, the baby had features of a term, low birth weight baby, weighing, 2.4kg. He was acyanosed in room air and had a rectal temperature of 36.5°c. The skull was narrow with an elongated bi-frontal diameter and a prominent occiput. In addition the ears were low set and micrognathia was present. The central nervous system examination revealed a small head with a circumference of 28.5cm, a small patent anterior fontanelle, normal muscle tones, deep tendon and sucking reflexes. The limbs revealed hyper-extension deformity at the knee, characteristic clenched hand posture with overriding fifth and middle finger (camptodactyly), syndactyly of the second and third digits, single transverse palmar crease, rocker-bottom feet with prominent calcanei and talipes equinovarus deformity of the ankles. No abnormality was found in the abdomen except that the rectum terminated in a patulous anus. However, physical examination of the spine and back showed no defect. Also, no abnormal physical findings were detected in the cardiovascular and respiratory systems. Two different picture views of the baby, displaying some of these features are shown in figure 1 and 2.