Endocrine function and haemoglobinopathies: biochemical assessment of thyroid function in children with sickle-cell disease.

Thyroid function was assessed in ninety children with homozygous sickle-cell disease (haemoglobin genotype SS) in forty-five children with heterozygous sickle-cell trait (AS) and in 162 control children with haemoglobin genotype AA. Serum levels of thyroxine, the in vitro triiodothyronine resin uptake and the calculated index of 'free thyroxine' were not significantly different in the three groups. The distribution of individual thyrotropin (TSH) values showed that only 11% of the HbSS subjects had values below the 95% confidence limits for the HbAA controls. However, the mean level of TSH was significantly lower in the HbSS than the other two groups of children.

Erythrocyte protoporphyrin in screening for iron deficiency anaemia among children in Nigeria.

Erythrocyte protoporphyrin (EPP) concentration was determined in 87 children who presented at the Adeoyo General Hospital and the University Teaching Hospital (Ibadan, Nigeria) for various ailments. Presence or absence of anaemia was based on haemoglobin concentration. There was a significant difference (p less than 0.01) between the mean haemoglobin values of the severely anaemic, mildly anaemic and control children. There was no significant difference (p greater than 0.05) between the mean haematocrit, mean EPP and mean EPP:Hb ratio of the mildly anaemic and control groups, but corresponding values for the severely anaemic group differed significantly (p less than 0.001) from the values for the others. The increase in EPP was correlated with the decrease in Hb concentration (r = -0.8263, p less than 0.001), suggesting that iron deficiency was a major cause of severe anaemia. EPP alone or in combination with Hb is effective in identifying anaemic individuals, while Hb alone tends to over-estimate the occurrence of iron deficiency anaemia. EPP values above 100 micrograms/100 ml of erythrocytes identified severe anaemia.

Psychosocial and cultural factors associated with the management of spina bifida cystica in Nigeria.

A prospective study of the psychosocial and cultural factors influencing the management of spina bifida cystica was carried out on Nigerian children (48 males, 28 females) seen at the University College Hospital, Ibadan, between January 1982 and December 1983. The parents of 74 of the 76 children had never heard of the disease, many had no idea of its causation and one-third incriminated witchcraft. Of primary concern was the cyst on the back. The better-educated parents tended to demand surgical treatment more than the illiterate parents. 22 children were treated surgically. The default rate was high because parents failed to get the expected hospital treatment. Most mothers showed relief rather than remorse on the death of their child.

Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children.

Five patients with radial aplasia studied during a period of ten years at the University College Hospital, Ibadan, Nigeria, had the amegakaryocytic thrombocytopenia syndrome. Together, they are termed the TAR syndrome. Two of the five patients were siblings from a polygamous family; three patients had relative hypogammaglobulinemia, and one of these patients had late onset of congenital varicella. The findings in these five cases led to further understanding of the genetic mechanisms of the TAR syndrome. Furthermore, the high incidence of infection associated with the syndrome could be partially explained by hypogammaglobulinemia.

Plasma chloroquine and desethylchloroquine concentrations in children during and after chloroquine treatment for malaria.

Twelve children with acute falciparum malaria were treated with 25 mg/kg chloroquine orally in three divided doses at 24 h intervals. Concentrations of chloroquine and its metabolite, desethylchloroquine, were measured in plasma from the beginning of treatment for up to 7 days using a high pressure liquid chromatography (h.p.l.c.) technique. Chloroquine was detectable in plasma within 30 min of giving the drug. Peak level was reached in 1-8 h after the first dose of 10 mg/kg and the peak concentrations ranged between 65 and 263 ng/ml. Chloroquine concentration declined slowly in plasma after stopping drug administration so that the concentration at the seventh day was 37.5% of the concentration on the third day. The apparent half-life was 3-4 days. Desethylchloroquine was detectable in plasma within 30 min of giving chloroquine and peak levels were reached in 2-12 h. Peak concentration after the first dose of chloroquine ranged between 9 and 62 ng/ml. Desethylchloroquine was also slowly cleared from plasma and mean concentration at the end of 7 days was 49% of the mean concentration at the end of 3 days.

Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria.

The clinical, cytogenetic, dermatoglyphic and autopsy findings in 14 cases of trisomy 18 as well as in seven cases of trisomy 13 seen in the Paediatric Department of University College Hospital (UCH), Ibadan, Nigeria, from 1972 to 1981 are presented. The incidence was 0.12 and 0.08 per 1000 livebirths for trisomies 18 and 13 respectively. All the patients were of regular trisomies except two; one case was mosaic for trisomy 18 and another case of trisomy 13 seemed to have derived an extra chromosome of the D group from a reciprocal D/D translocation that was maternally carried. Both syndromes have certain physical features in common which sometimes made clinical diagnosis difficult, but each had diagnostic features of its own. While the combination of microcephaly, cleft lip and/or palate, microphthalmos, capillary haemangioma and polydactyly form the hallmark of trisomy 13, the presence of prominent occipit, micrognathia, clenched fist together with protruding heel make the appearance of trisomy 18 unmistakable. The prognosis in both syndromes is poor and those who survive beyond infancy exhibit severe mental retardation. It is therefore important to establish the diagnosis early so as to conserve limited resources in an attempt to prolong the lives of neonates with these syndromes.

Fournier's syndrome in infants. A review of cases from Ibadan, Nigeria.

Six children aged between 3 and 12 weeks were treated for Fournier's syndrome in our hospital between 1972 and 1979. Circumcision, diaper rash, and perianal skin abscesses were suspected as portals of entry for pathogens initiating the lesions. In two cases Staphylococcus aureus was isolated. Medical treatment of the gangrenous area proved successful in all cases, and the children survived with no appreciable scrotal skin loss or adhesions. Our results confute the approach of previous workers, most of whom have advocated aggressive surgical management in a devastating illness like Fournier's gangrene.

The incidence of Turner's syndrome in Ibadan, Nigeria.

A study of 22 769 consecutive live births in a Nigerian hospital has revealed the incidence of Turner's syndrome to be 1 in 2745 live females. Shortness of stature and neck, low posterior hair line, broad chest with widely spaced rudimentary nipples, congenital lymphoedema, redundant lax neck skin and hypoplastic nails were the most common clinical features. Birth weight was above 2.5 kg in only five of the fourteen cases in which this measurement was taken. Associated renal and cardiovascular anomalies occurred in 87.5 and 45% of the cases respectively. While neither parental age nor the birth rank of the patients were contributory factors in the causation of the syndrome, ingestion of traditional medicinal concoctions during the pregnancy which appeared to have played a role in four out of the sixteen cases requires further studies.

The incidence of Down's syndrome in Nigeria.

Studies of Down's syndrome covering a period of 9 years revealed an incidence of 1 in 865 livebirths in a Nigerian hospital. Cytogenetic analysis in 386 patients showed 369 (95.5%) cases to be the result of regular trisomy 21, and translocation trisomy 21 was found in nine (2.5%) patients. Six (1.5%) patients were mosaics and the remaining two (0.5%) cases were classified as miscellaneous. A high incidence of cases among young mothers was recorded, but a search for environmental factors contributory to non-disjunction in this relatively young age group was unrevealing. The study has shown that Down's syndrome occurs as commonly in Negroes as in other races. Epidemiological studies like this are necessary to heighten the awareness of health planners in communities that have for a long time considered haemoglobinopathies to be the major genetic disorder, in order to prepare the ground for preventive measures.

Bilateral gangrene of the feet associated with Salmonella infection in children with sickle cell anaemia.

Two cases of bilateral gangrene of the feet associated with salmonella infection in Nigerian children with sickle cell anaemia are described. Healing was spontaneous and complete in both cases. A search for sickling phenomenon and salmonella infection is advocated in all African children with so-called idiopathic bilateral gangrene of childhood.

A comparative study of the morbidity associated with sickle cell anemia among patients in Ibadan (Nigeria) and Oakland (U.S.A.).

A cohort of 60 matched pairs of sickle cell anemia patients from Ibadan (Nigeria) and Oakland CA., USA, were compared in a follow up study. The null hypothesis tested was that there was no significant difference in the morbidity associated with sickle cell anemia among Ibadan SS patients receiving antimalaria prophylaxis, and Oakland SS patients. Proportions of outpatient clinic visits due to "crisis"; "SS-associated-infections"; "infections not associated with sickle cell anemia"; "routine follow up"; and "others" were used as measures of morbidity. The results showed that the proportion of clinic visits due to "crisis" and "SS associated infections" were not significantly different (p greater than 0.05) among both groups of patients. Occasional variations were found between mean proportions of the clinic visits due to "infections not associated with SS"; "follow up" and "others".

Priapism complicating sickle cell disease in Nigerian children.

Forty-two out of a total of 45 children who presented with priapism in the University College Hospital Ibadan during an eight-year period had associated sickle cell disease (SCD). Conservative management was satisfactory in 35 out of 40 patients, but the outcome in all the five cases subjected to surgery was poor. Our findings suggest that associated SCD should be suspected in children presenting with priapism in areas of the world where SCD is endemic, and that conservative management is preferable to surgery.