RESUMEN
BACKGROUND: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus. CASE PRESENTATION: In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones. CONCLUSIONS: This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Being familiar with such cases may allow improvement of our knowledge for better management in the future.
Asunto(s)
Anomalías Múltiples/tratamiento farmacológico , Hormona del Crecimiento , Terapia de Reemplazo de Hormonas , Síndrome de Pallister-Hall/tratamiento farmacológico , Pubertad/fisiología , Testosterona , Anomalías Múltiples/etiología , Anomalías Múltiples/fisiopatología , Adolescente , Hormona del Crecimiento/uso terapéutico , Humanos , Masculino , Defectos del Tubo Neural , Síndrome de Pallister-Hall/complicaciones , Síndrome de Pallister-Hall/fisiopatología , Fenotipo , Pubertad/efectos de los fármacos , Testosterona/uso terapéutico , Resultado del TratamientoRESUMEN
OBJECTIVE: To detect and screen growth anomaly among children in North Lebanon, raise awareness on the importance of regular height check, and establish recommendations for the authorities. DESIGN: 18-month campaign. SETTING: 230 public schools in North Lebanon. PARTICIPANTS: 41,347 children, aged 5-15 years. INTERVENTIONS: Weight was measured using a standardized stadiometer and compared with French curves of height-for-age. Awareness was raised by promoting early detection of growth disorders in Lebanon. The follow-up phase was intended to secure referral and treatment of the detected short stature children. MAIN OUTCOME MEASURES: Age, sex, height, societal issues. RESULTS: 40,023 students were recruited from 228 schools; of these, 63.7% of the screened children were aged 5-10 years. Four percent (1,631 children) of the screened population presented short stature, of whom 50% were aged 5-10 years and 41% were more severely affected and referred to specialists; 59% were first directed to the school physician/pediatrician. The follow-up phase was not achieved because of the patients' low socioeconomic level. We also found that many children were too old for the attended level at school, mainly because of low socioeconomic levels and educational backwardness. CONCLUSIONS: Our screening campaign confirms the need for more awareness on the importance of early detection of growth retardation in Lebanon. It highlights the need for making efforts to reduce poverty and its consequences in North Lebanon. Our future goal is to expand our campaign throughout Lebanon and cooperate with health authorities to lower the cost of work-up on the patient.