Decision making and modes of death in a tertiary neonatal unit.

AIMS: To study the frequency and reason for withdrawal/withholding of life sustaining treatment (LST) and do not resuscitate (DNR) orders in infants who died in a tertiary neonatal unit. METHODS: Infants who died at Homerton University Hospital between January 1998 and September 2001 were studied by retrospective analysis of patient records. RESULTS: The case notes of 71 (84%) of 85 infants who died were studied. Mode of death was withdrawal of LST in 28 (40%), DNR in 11 (15%), withholding of LST in two (3%), and natural in 30 (42%) infants. Withdrawal of LST was discussed with the parents of 39 seriously ill infants; 28 (72%) parents agreed. There was no difference in birth weight and gestational age of babies whose parents agreed or refused withdrawal of LST. White and Afro-Caribbean parents and those from the Indian subcontinent (20 of 23) were more likely to agree to withdrawal of LST than Black African or Jewish (eight of 16, p = 0.015) parents. The median age at withdrawal of LST was 4 days (range 1-57). The median duration between discussion and the parents agreeing to withdrawal of LST was 165 minutes (range 30-2160), and median duration between withdrawal of LST and death was 22 minutes (range 5-210). The most common reason for withdrawal of LST was complications of extreme prematurity (68%). CONCLUSION: The most common mode of death was withdrawal of LST, and the most common reason was complications of extreme prematurity. The ethnic and cultural background of the parents influenced agreement to withdrawal of LST.

Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).

We report two unusual cases of resistance to thyroid hormone (RTH) in one family. The first case, a male infant, had clinical features of thyrotoxicosis in the neonatal period. In the fourth week of life weight gain was poor despite a daily intake of standard infant formula almost double the infant's estimated requirements. At this time serum free T4 (fT4) was 60.7 pmol/l (Normal range [NR] 11-25 pmol/l) and TSH was inappropriately normal at 1.8 mU/l (NR 0.3-4.0 mU/l). The infant responded clinically and biochemically to propylthiouracil (PTU) at a dose of 10 mg/kg/day. Following 27 days of treatment serum fT4 was 22.6 pmol/l and TSH had risen to 24.9 mU/l. As the infant was thriving treatment was discontinued. The infant, now aged 6 months old, remains clinically euthyroid and developmentally normal off treatment. The infant's mother, from whom he had inherited a mutation of the thyroid receptor beta (TRbeta) gene (M313T), presented earlier with secondary infertility and clinical features of thyrotoxicosis. Treatment with PTU restored her fertility and she spontaneously conceived. In the subsequent pregnancy, clinical and biochemical features of RTH improved, and she gave birth to a small but healthy female infant. In the next pregnancy, resulting in the birth of the affected male infant, clinical and biochemical features of RTH worsened, and high doses of PTU were required to maintain a clinically euthyroid state. To our knowledge, these are the first case reports of RTH associated with added features of a hypermetabolic state in infancy and secondary infertility.

Overcoming barriers to hepatitis B immunisation by a dedicated hepatitis B immunisation service.

AIMS: To determine the effectiveness of a selective hospital based hepatitis B immunisation programme and the barriers to be overcome in obtaining a successful outcome. METHODS: Retrospective case note review of 265 infants born over a five year period to hepatitis B carrier mothers at a university affiliated hospital in Hackney, London. RESULTS: A total of 242 infants (91%) were fully vaccinated; 217 (82%) had serology; 31 required booster doses. Percentages failing to reach second, third vaccinations, and serology on schedule rose exponentially (7%, 18%, 33% respectively). Mobility was high (25%) and significantly affected outcome. A total of 95% Hackney resident babies were fully vaccinated compared with 78% non-residents. Uptake of routine immunisations was higher in Hackney residents than non-residents and greater in those who were eligible for hepatitis B vaccine. Name changes occurred in 35%. Translation requirements were high (85% for Turkish, Vietnamese, and Asian families). Requirements for specific postnatal counselling of mothers and hepatology referral fell significantly during the course of the study. Only seven of 22 babies born in 1995 in Tower Hamlets compared with 53 of 58 Hackney babies received a full vaccination course in non-hospital based primary care. CONCLUSION: In inner city areas with high prevalence of hepatitis B carriage, mobility, and diverse ethnicity, a dedicated centralised immunisation service can be highly effective, provided that adequate support services (translation, counselling, and parental referral) are available.

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.

Schistosoma haematobium infection in children in Britain.

OBJECTIVE: To highlight the existence of Schistosoma haematobium in certain ethnic minority groups in Britain and in English citizens who have recently visited Africa and the Middle East, so that general practitioners and paediatric nephrologists/urologists are aware of its occurrence and consider it among the differential diagnoses in children presenting with haematuria. PATIENTS AND METHODS: Over a 2-year period, six consecutive boys (mean age 13.5 years, range 8-15) presented with haematuria and were subsequently diagnosed to be infected with S. haematobium. All patients were from Africa and had recently visited their native country. There had all reported paddling in freshwater lakes and streams. RESULTS: Dysuria and haematuria was noted 2-3 months after the infection. Terminal urine samples taken after exercise at midday were positive for S. haematobium ova. Praziquantel anti-schistosomal chemotherapy was effective in treating the infection. CONCLUSION: S. haematobium infection is treatable in the early stages and the changes are reversible before the development of fibrotic lesions, which may result in anatomical obstruction. A terminal urine sample taken at midday after exercise was diagnostic in showing Schistosoma ova in all cases. This infection must be considered in the differential diagnoses of haematuria in some ethnic minority British citizens and in those Britons who have visited Africa or the Middle East in the recent past.

Paediatrics at the cutting edge: do we need clinical ethics committees?

OBJECTIVES: To investigate the need for hospital clinical ethics committees by studying the frequency with which ethical dilemmas arose, the perceived adequacy of the process of their resolution, and the teaching and training of staff in medical ethics. DESIGN: Interviews with individuals and three multidisciplinary teams; questionnaire to randomly selected individuals. SETTING: Two major London children's hospitals. RESULTS: Ethical dilemmas arose frequently but were resolved in a relatively unstructured fashion. Ethical concerns included: the validity of consent for investigations and treatment; lack of children's involvement in consent; initiation of heroic or futile treatments; resource allocation. Staff expressed the need for a forum which would provide consultation on ethical issues, develop guidelines for good ethical practice, undertake teaching and training, and provide ethical reflection outside the acute clinical setting. CONCLUSION: Multidisciplinary, accountable and audited clinical ethics committees with predominantly advisory, practice development and educational roles could provide a valuable contribution to UK clinical practice and perhaps in other countries that have not developed hospital clinical ethics committees.

Extensive naevus comedonicus in a child with Alagille syndrome.

Naevus comedonicus is a rare condition, thought to be a hamartoma in which cells of the pilosebaceous unit fail to develop appropriately. Although it is usually an isolated phenomenon, it has been associated with other defects, including those of the skeletal, ocular and central nervous system. A girl with this condition is described who also had Alagille syndrome (arteriohepatic dysplasia), a previously unreported association.

Mycobacterial infection in an inner city children's hospital.

Childhood tuberculosis is perceived by many as a disease of the past. Experience in a children's hospital serving a deprived population suggested that tuberculosis and other mycobacterial infections were not declining in clinical practice. Fifty three tuberculous and 11 atypical mycobacterial infections were identified between 1978 and 1992. There was no decline in tuberculosis and nine of the 11 atypical infections occurred in the last five years. Altogether 40% of cases of tuberculosis were in non-Asian children; 32% had arrived in the UK or visited family overseas in the previous year; and 38% had a history of tuberculosis contact, usually a close adult relative. Nationally, the previous decline in tuberculosis in all ages has reversed. In the local health districts in London's east end, childhood tuberculosis has also stopped declining and seems to be increasing. It is regrettable that BCG vaccination has been abolished by some districts in the UK, against current recommendations. Childhood tuberculosis is still common in the practice described here, including among children who do not fall into conventionally recognised high risk groups. Inner city dwellers and junior doctors are both highly mobile populations, adding to the risk that paediatricians, particularly those in training, may encounter tuberculosis with little or no previous experience of the condition.

Enteropathy and renal involvement in an infant with evidence of widespread autoimmune disturbance.

An 8-month-old infant presented with a 1 month history of protracted diarrhea, vomiting, and weight loss. Small intestinal biopsy showed a flat mucosa and there was no clinical improvement with gluten, cow's milk protein, and disaccharidase-free diet. Serial testing for autoantibodies revealed persistent autoantibodies to gut epithelial cells and to renal brush borders; on two occasions, atypical liver-kidney microsomal antibodies were detected. Treatment with steroids produced clinical improvement but the patient finally succumbed with a combination of gut and renal dysfunction. The widespread nature of the antibodies, with clinical involvement of gut, liver, and kidney, suggest an underlying autoimmune mechanism for the pathogenesis of the condition. Serial autoantibody measurements may provide a means to monitor the disease progress and may be a guide to treatment.

The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.

We report a child with multiple malformations caused by trisomy for the distal part of the long arm of chromosome No 5. A neonatal diagnosis of Down's syndrome had previously been made on the basis of clinical examination and the detection of an additional chromosome not unlike No 21. A subsequent clinical re-evaluation, with the cooperation of the parents who permitted further studies, led to the confirmation of the true diagnosis. The mother was the carrier of a balanced translocation between chromosome No 5 and No 14. The child had severe growth and psychomotor retardation and characteristic features: microcephaly, antimongoloid slant, epicanthus, low set ears, down-turned mouth, and long upper lip. She was hypertonic and a congenital heart disease (atrial septal defect) was present. We have compared this case with others known to be trisomic for segment 5q31-qter.