Apstrakt
Background: Charge syndrome is a rare genetic disorder that arises during early fetal development and affects multiple organ systems. Diagnosis is largely clinical. Mutation at the CHD7 gene located on Chromosome 8 has been identified in a great number of patients reviewed in different parts of the world. Survival depends on the intensity of the medical management as well as an early aggressive approach to the feeding adaptation in these children.
Case report: We report a case of a 42 day old baby with clinical features in keeping with Charge syndrome. He was a product of a full term uneventful pregnancy period delivered to non consanguineous apparently healthy parents. Two older siblings were normal. He developed respiratory distress shortly after birth. Multiple abnormalities were identified at birth which included genital, ear, eye and cardiovascular as well as skeletal abnormalities. Genetic testing was not carried out due to cost. Child was managed by a multidisciplinary team. Main problems were those of sepsis and feeding adaptation. He later succumbed to death after a month on admission.
Conclusion: This is the first case of Charge syndrome reported in Nigeria. It is a rare, multi-systemic condition with grave health implications and early diagnosis and appropriate management could reduce morbidity and prevent mortality. This report is to increase awareness of this rare condition and to promote better identification and intervention of similar presentation in future.
Keywords: Chromosomes, anomalies multidisciplinary
Résumé
Contexte: Le syndrome de Charge est une maladie génétique rare qui survient durant le développement précoce du fœtus et affecte plusieurs systèmes d’organe. Le diagnostic est en grande partie clinique. La mutation au gène CHD7 situé sur le chromosome 8 a été identifiée dans un grand nombre de patients examinés dans différentes parties du monde. La 8 a été identifiée dans un grand nombre de patients examinés dans différentes parties du monde. La survie dépend de l’intensité de la prise en charge médicale ainsi qu’une approche agressive tôt pour l’adaptation de l’alimentation de ces enfants.
Rapport de cas: Nous rapportons le cas d’un bébé de 42 jours avec des caractéristiques cliniques en harmonie avec le syndrome de Charge. Il était un produit d’une période de grossesse à terme sans incident engendré par des parents, non consanguins, apparemment sains. Deux frères et sœurs plus âgés étaient normaux. Il a développé une détresse respiratoire peu après la naissance. Plusieurs anomalies ont été identifiées à la naissance qui comprenait l’anomalie génitale, de l’oreille, des yeux et cardiovasculaire ainsi que des anomalies du squelette. Le test génétique n’a pas été effectué en raison du coût. L’enfant a été géré par une équipe multidisciplinaire. Les problèmes principaux étaient ceux de la septicémie et l’adaptation alimentaire. Il a succombé plus tard à la mort après un mois d’admission.
Conclusion: Ceci est le premier cas de syndrome de Charge signalé au Nigeria. C’est une condition rare, multi-systémique avec des implications graves pour la santé que le diagnostic tôt et gestion appropriée pourrait réduire la morbidité et la prévention de la mortalité. Ce rapport est d’accroître la sensibilisation à cette maladie rare et de promouvoir meilleure identification et intervention de présentation similaire à l’avenir.
Mots-clés: chromosomes, les anomalies multidisciplinaires
Correspondence: Dr. Olumide O. Jarrett, Department of Paediatrics, College of Medicine, University of Ibadan, Nigeria. E-mail: tokunbojarret@yahoo.com
Reference
Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr 1979; 95:395 -398.
Hittner H, Hirsch N, Kreh G and Rudolph A. Colobomatous microphthalmia, heart disease, hearing loss and mental retardartion: a syndrome. J Pediatr ophthalmal strabismus 1979; 16:122-128.
Pagon RA, Graham Jr JM, Zonana J andYong SL. Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981; 99:223-237.
Blake KD and Prasad C. CHARGE syndrome review. Orphanet J Rare Dis 2006; 34:1- 8.
Vissers LE, van Ravenswaaji CMA, Admiral R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36: 955 - 957.
Firth HV and Hurst JA. Clinical approach. In Oxford disk reference clinical genetics. 7th edition. eds. Firth HV, Hurst JA. Oxford University press. 2013: 82 – 201.
Williams MS. Speculations on the pathogenesis of CHARGE syndrome. Am J Med Genet 2005; 133: 318 – 325.
Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD 7 truncating mutations correlates with expression during human development. J Med Genet 2006; 43: 211- 317.
Issekutz KA, Graham JM, Prasad C, et al. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Amer J Med Genet 2005; 133: 309 - 317.
Blake KD, Davenport SL, Hall BD, et al. CHARGE association: an update and review for the primary pediatrician. Clinical Paediatrics 1998; 37: 159 - 173.
Jones KL. CHARGE association, In Smith’s recognizable patterns of Human malformation. 5th ed. WB Saunders co 1976; 668 – 670.
Lin AE, Siebert JR and Graham JM Jr: Central nervous system malformation in the CHARGE association. Am J Med Genet 1990, 37: 304 -310.
Byerly KA and Pauli RM: Cranial nerve abnormalities in CHARGE association. Am J Med Genet 1993, 45:751-757.
Jongmans M, Admiraa R, van der Donk K, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2005; 43: 306 – 314.
Thelin JW and Swanson LA. CHARGE syndrome: multiple congenital anomalies including disorders of all senses and speech, language, feeding, swallowing and behaviour, ears and hearing. The ASHA leader 2006; 11: 6 – 7.
Shoji Y, Ida S, Etani Y, et al. Endocrinological characteristics of 25 Japanese patients with Charge syndrome. Clin Paediatr Endocrinol 2014; 23: 45 – 51.
Dorr HG, Madeja J and Junghams C. Spontaneous post natal growth is reduced in children with CHARGE syndrome. Acta Paediatr 2015; doi:10.1111/apa 12980.
Liu L, Yu T, Wang L, et al. A novel mutation in Chinese patient with CHARGE syndrome. Meta Gene 2014; 2: 469 – 478.
Wong MT, Scholvinck EH, Lambeck AJ and van Ravenswaaiji-Arts CM. CHARGE syndrome: a review of immunological aspects. Eur J Hum Genet 2015; doi:10.1038/ejhg.2015.7.
Martin DM. Epigenetic Developmental disorders: CHARGE syndrome, a case study. Curr Genet Med Rep 2015;3:1 – 7.
Jain S, Kim HG, Lacbawan F, et al. Unique phenotype in a patient with CHARGE syndrome. Inter J Pediatr Endocrinol 2011. http://www.ijpeonline,com/content/2011/1/11.
Kim HG ,Kurth I, Lan F, et al. Mutations in CHD7, encoding a chromatin-remodelling protein, cause idiopathic hypogonadotropin hypogonadism and Kallman syndrome. Amer J Hum Genet 2008; 83: 511 – 519.
Kallen K, Robert E, Mastroiacovo P, et al. CHARGE association in newborns: a registry-based study. Teratol 1999; 60: 334 – 343.
Blake KD and Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1: 34.
Zentner GE, Layman WS, Martin DM and Scacher PC. Molecular and phenotypic aspects of CHD 7 mutation in CHARGE syndrome. Am J Med Genet 2010; 15: 674 – 686.
Blake KD. Russell-Eggitt IM, Morgan DW, et al. Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child 1990; 65: 217 - 223.