RESUMO
BACKGROUND: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome. CASE PRESENTATION: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the affected muscles. A wider classification of 'PIK3CA-related pathology spectrum' is presented which includes cancer, benign skin lesions/tumors, Cowden syndrome, isolated vascular malformations and various overgrowth syndromes. The latter entity is sub-divided into 3 sub-groups: overgrowth with brain involvement, overgrowth with multiple lipomatosis, and overgrowth without brain involvement/multiple lipomatosis. CONCLUSION: Our literature review indicated that "upper limb muscle overgrowth with hypoplasia of the index finger" is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.
Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Transtornos do Crescimento/genética , Mutação/genética , Deformidades Congênitas das Extremidades Superiores/genética , Extremidade Superior/crescimento & desenvolvimento , Anormalidades Múltiplas/genética , Criança , Estudos de Associação Genética , Humanos , Lactente , Lipoma/genética , Masculino , Fenótipo , SíndromeRESUMO
OBJECTIVES: To assess the basic knowledge on obstetric brachial plexus injury among obstetricians, pediatricians, and physio-/occupational therapists in major hospitals in Riyadh. We aimed to identify if inadequate knowledge is the reason behind delayed referrals to the Hand Clinic. Methods: This is a cross-sectional questionnaire-based study conducted at 5 major hospitals in Riyadh, Saudi Arabia between June 2015 and August 2015. A questionnaire of 6 questions (multiple choice closed-ended questions) was given to obstetricians, pediatricians, and physio-/occupational therapists' in these selected hospitals. The total score out of 6 was categorized as good, adequate, and inadequate knowledge if the score is 5-6, 3-4, and less than 3; respectively. The data were analyzed with Chi-square, fisher exact, Analysis of Variance, and Post-hoc tests where appropriate. Results: A total of 323 subjects participated in the study. For positions, the best mean score (for all 6 questions) was scored by consultants and the score was only 2.95 out of 6. For hospitals, Hospital IV scored the best mean score (2.99). The mean scores were not significantly different between different specialties. Conclusion: Inadequate knowledge seems to be a reason for delayed referrals of cases of obstetric brachial plexus injury to Hand Clinics in Riyadh, Saudi Arabia.
