A 37-year-old Nigerian woman with Apert syndrome - medical and psychosocial perspectives: a case report.

BACKGROUND: Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes. Currently, there is paucity of reports about adult patients in African medical literature. Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting. CASE PRESENTATION: Our patient is a 37-year-old African woman. She had abnormal characteristics of the skull, face, and extremities that were detected at birth. She is clinically stable but moderately depressed as an adult. Mutation in fibroblast growth factor receptor 2 (Ser252Trp) was positive. Her physical deformities and the laboratory findings confirmed the diagnosis of Apert syndrome. She missed opportunities for vital interventions to limit the physical and psychosocial effects of the disease, especially during early growth and developmental period, mainly due to the inadequacy of the institutions offering medical and psychosocial support. As a child she did not complete formal education or acquire vocational skills even though intellectual disability was never established. During adulthood she became socially deprived owing to her physical features and educational handicap. Her lifelong dependency is an unfortunate social consequence starting with developmental challenges encountered during childhood and worsened by adult social maladjustment. CONCLUSIONS: Our patient does not have medically life-threatening features but was depressed. We recommend strengthening of institutions for early medical intervention and lifetime psychosocial support to limit physical and psychosocial effects of Apert syndrome among adult survivors in resource-limited settings.

Association between Adiponectin, Serum Lipids and Obesity in a University Setting in Nigeria.

Obesity is an energy imbalance condition, which is accompanied by metabolic and cardiovascular complications.Adiponectin, produced by adipocytes, is an important adipokine involved in carbohydrate and lipid metabolism. Adiponectinlevel is altered in obesity in various populations. In Nigeria, very few studies regarding adiponectin exist, and none, to thebest of our knowledge, investigated the relationship between adiponectin and lipid profile and obesity. Therefore, this studyaims to evaluate changes in adiponectin level and serum lipids with body mass index, and investigate the relationship betweenadiponectin, serum lipids and obesity in Nigerian adults. Anthropometric parameters and blood pressure were measured, and blood samples were collected for biochemical assessment after 12 hours fasting, in a total of 280 subjects, comprising of 186males and 94 females. Serum adiponectin level was evaluated by ELISA, while serum lipid profile was determined byenzymatic endpoint method. Quantitative data were analyzed for significant difference using ANOVA, and Pearson'scorrelation was used to evaluate relationships. Serum adiponectin level was significantly (P ˂ 0.05) highest within overweightmale subjects (1.6 ± 0.06 µg/ml), and lowest within normal male subjects (1.4 ± 0.03 µg/ml). The values for adiponectin concentrations were not significantly different in the female subjects. There was no association in serum lipids andadiponectin in both male (r = -0.035, P >0.05; r = -0.011, P >0.05; r = -0.053, P >0.05; r = -0.084, P >0.05) and female (r=0.061, P >0.05; r = 0.018, P>0.05; r = 0.057, P>0.05; r = -0.021, P >0.05) for LDL, HDL, TC and TRIG respectively. Lipidprofile was not different across BMI classes. There was no relationship between adiponectin and serum lipids in individualsin the study population of adult Nigerians.