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Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 2016; 35(02): 152-156
DOI: 10.1055/s-0036-1583934
Case Report | Relato de Caso
Thieme Publicações Ltda Rio de Janeiro, Brazil

First Case Report of an Infant with Aplasia Cutis Congenita of Scalp and Myelomeningocele

Primeiro relato de caso de aplasia cutis congenita e mielomeningocele
Angelo Silva Neto
1   Pediatric Neurosurgery, Hospital Clóvis Sarinho, Natal, RN, Brazil
,
Glena Marcelino
2   Medical Student, Universidade Potiguar, Laureate International Universities, Natal, RN, Brazil
,
Cesar Garcia
2   Medical Student, Universidade Potiguar, Laureate International Universities, Natal, RN, Brazil
,
Isadora Dantas
2   Medical Student, Universidade Potiguar, Laureate International Universities, Natal, RN, Brazil
,
Isafran Silva
2   Medical Student, Universidade Potiguar, Laureate International Universities, Natal, RN, Brazil
,
Emerson Oliveira
1   Pediatric Neurosurgery, Hospital Clóvis Sarinho, Natal, RN, Brazil
› Author Affiliations
Further Information

Publication History

12 January 2016

26 March 2016

Publication Date:
04 May 2016 (online)

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Abstract

Aplasia cutis congenita of scalp (ACCS) is a rare developmental anomaly. It has presented in children who have many concomitant anomalies. Large, deep defects can complicate by repeat local and systemic sepsis and life-threatening hemorrhage. In this paper, we describe, to the best of our knowledge, the first case of a newborn boy with ACCS and myelomeningocele whose evolution with hydrocephalus has brought us a serious paradigm of using a shunt in the presence of tissue expanders. The treatment of hydrocephalus with third ventriculostomy associated with good aesthetic final result show an alternative to the use of shunt in this scenario, even in infants of young age. We review here therapeutic strategies and challenges with this disease.

Resumo

A aplasia cútis congênita do couro cabeludo (ACC) é uma rara anomalia do desenvolvimento. Tem sido observada em pacientes com outras deformidades associadas. Formas extensas e profundas podem evoluir com septicemia e hemorragia grave. Neste trabalho descrevemos um caso inédito de neonato do sexo masculino com ACC e espinha bífida na qual a evolução com hidrocefalia nos trouxe um dilema em usar shunt na presença de expansores teciduais. O tratamento com terceiroventriculostomia endoscópica associado a um bom resultado estético revela uma alternativa ao uso de derivações neste cenário, mesmo em lactentes. Revisamos aqui as opções terapêuticas e desafios encontrados nesta patologia.

Keywords

ectodermal dysplasia - hydrocephalus - neuroendoscopy - myelomeningocele

Palavras-chave

aplasia cútis congênita - hidrocefalia - espinha bífida
 

  • References

  • 1 Santos de Oliveira R, Barros Jucá CE, Lopes Lins-Neto A, Aparecida do Carmo Rego M, Farina J, Machado HR. Aplasia cutis congenita of the scalp: is there a better treatment strategy?. Childs Nerv Syst 2006; 22 (9) 1072-1079
    CrossrefPubMedGoogle Scholar
  • 2 Komuro Y, Yanai A, Seno H , et al. Surgical treatment of aplasia cutis congenita of the scalp associated with bilateral coronal synostosis. J Craniofac Surg 2002; 13 (4) 513-519
    CrossrefPubMedGoogle Scholar
  • 3 Brzezinski P, Pinteala T, Chiriac AE, Foia L, Chiriac A. Aplasia cutis congenita of the scalp—what are the steps to be followed? Case report and review of the literature. An Bras Dermatol 2015; 90 (1) 100-103
    CrossrefPubMedGoogle Scholar
  • 4 Bernbeck B, Schwabe J, Groninger A , et al. Aplasia cutis congenita of the scalp: how much therapy is necessary in large defects?. Acta Paediatr 2005; 94 (6) 758-760
    CrossrefPubMedGoogle Scholar
  • 5 Harvey G, Solanki NS, Anderson PJ, Carney B, Snell BJ. Management of aplasia cutis congenita of the scalp. J Craniofac Surg 2012; 23 (6) 1662-1664
    CrossrefPubMedGoogle Scholar
  • 6 Phillips BC, Gelsomino M, Pownall AL , et al. Predictors of the need for cerebrospinal fluid diversion in patients with myelomeningocele. J Neurosurg Pediatr 2014; 14 (2) 167-172
    CrossrefPubMedGoogle Scholar
  • 7 Jernigan SC, Berry JG, Graham DA, Goumnerova L. The comparative effectiveness of ventricular shunt placement versus endoscopic third ventriculostomy for initial treatment of hydrocephalus in infants. J Neurosurg Pediatr 2014; 13 (3) 295-300
    CrossrefPubMedGoogle Scholar
  • 8 Kulkarni AV, Riva-Cambrin J, Browd SR , et al; Hydrocephalus Clinical Research Network. Endoscopic third ventriculostomy and choroid plexus cauterization in infants with hydrocephalus: a retrospective Hydrocephalus Clinical Research Network study. J Neurosurg Pediatr 2014; 14 (3) 224-229
    CrossrefPubMedGoogle Scholar
  • 9 Faggin R, Bernardo A, Stieg P, Perilongo G, d'Avella D. Hydrocephalus in infants less than six months of age: effectiveness of endoscopic third ventriculostomy. Eur J Pediatr Surg 2009; 19 (4) 216-219
    Article in Thieme ConnectPubMedGoogle Scholar
  • 10 Nichols DD, Bottini AG. Aplasia cutis congenita. Case report. J Neurosurg 1996; 85 (1) 170-173
    CrossrefPubMedGoogle Scholar
  • 11 Martínez-Lage JF, Almagro MJ, López Hernández F, Poza M. Aplasia cutis congenita of the scalp. Childs Nerv Syst 2002; 18 (11) 634-637 , discussion 638
    CrossrefPubMedGoogle Scholar
  • 12 Torrelo A, Fernandez-Crehuet P, Del Prado E , et al. Extensive comedonal and cystic acne in Patau syndrome. Pediatr Dermatol 2010; 27 (2) 199-200
    CrossrefPubMedGoogle Scholar
  • 13 Kruk-Jeromin J, Janik J, Rykała J. Aplasia cutis congenita of the scalp. Report of 16 cases. Dermatol Surg 1998; 24 (5) 549-553
    CrossrefPubMedGoogle Scholar
  • 14 Dutra LB, Pereira MD, Kreniski TM, Zanon N, Cavalheiro S, Ferreira LM. Aplasia cutis congenita: management of a large skull defect with acrania. J Craniofac Surg 2009; 20 (4) 1288-1292
    CrossrefPubMedGoogle Scholar
  • 15 Silva JC, Almeida JP, Serra S , et al. Aplasia cutis congenita of the scalp. Arq Neuropsiquiatr 2008; 66 (3B): 752-754
    CrossrefPubMedGoogle Scholar
  • 16 Ross DA, Laurie SW, Coombs CJ, Mutimer KL. Aplasia cutis congenita: failed conservative treatment. Plast Reconstr Surg 1995; 95 (1) 124-129
    CrossrefPubMedGoogle Scholar
  • 17 Henriques JG, Pianetti Filho G, Giannetti AV, Henriques KS. [Large scalp and skull defect in patient with aplasia cutis congenita]. Arq Neuropsiquiatr 2004; 62 (4) 1108-1111
    CrossrefPubMedGoogle Scholar
  • 18 Gibstein LA, Abramson DL, Bartlett RA, Orgill DP, Upton J, Mulliken JB. Tissue expansion in children: a retrospective study of complications. Ann Plast Surg 1997; 38 (4) 358-364
    CrossrefPubMedGoogle Scholar
  • 19 Di Rocco C, Cinalli G, Massimi L, Spennato P, Cianciulli E, Tamburrini G. Endoscopic third ventriculostomy in the treatment of hydrocephalus in pediatric patients. Adv Tech Stand Neurosurg 2006; 31: 119-219
    PubMedGoogle Scholar