Sndrome de Adams-Oliver descrio clnica e acompanhamento ...

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  • Rev Inst Cinc Sade2009;27(2):136-9

    Sndrome de Adams-Oliver descrio clnica e acompanhamentoda evoluo de um casoAdams-Oliver syndrome clinical description and follow-up of anevolution of a case

    Janana Aparecida Soares*Clarissa Ramirez**Lvia Karina Ferreira Ventura***Marcelo Adriano Ingraci Barbosa****

    ResumoIntroduo A sndrome de Adams-Oliver ou Aplasia Congnita da Ctis rara e se caracte-

    riza pela ausncia de uma parte da pele ao nascimento em rea localizada ou generalizada. Apre-senta-se, mais comumente, como pequenas leses no couro cabeludo que ao nascimento podemj ter tido resoluo com cicatriz ou permanecer com eroso superficial at ulcerao profunda,ocasionalmente envolvendo as meninges. Devido raridade da sndrome de Adams-Oliver, relata-se o caso de uma criana que nasceu com 36 semanas de gestao com malformao do tipo au-sncia parcial da calota craniana, com ausncia de pele e tecido subcutneo, malformaocongnita em membros superiores e membros inferiores. Aps diagnstico da sndrome, o pa-ciente foi submetido cirurgia plstica para correo da encefalocele e posterior tratamento daleso cutnea na regio parieto-occipital-temporal. Pela escassez de pele, a leso no foi total-mente coberta e foi discutido aguardar evoluo clnica para outras abordagens futuras. Com trsmeses de vida, evolui para bito por insuficincia respiratria aps ficar entubado com ventilaomecnica por sete dias.

    Palavras-chave: Manifestaes cutneas; Encefalocele; Couro cabeludo; Insuficincia respira-tria; Anormalidades mltiplas

    AbstractIntroduction Adams-Oliver syndrome or Aplasia Cutis Congenita (ACC) is a rare condition cha-

    racterized by a congenital absence of a localized or generalized area of skin at birth. It most oftenoccurs as small lesions in the scalp, which at birth could have already been healed, or it may re-main a shallow ulcer until it becomes a deep ulceration, occasionally impairing the meninges. Dueto Adams-Oliver syndrome singularity, we report a case of a child who was born with a gestationalage of 36 weeks with a congenital malformation, such as partial absence of the skullcap, absenceof skin and subcutaneous tissue, and the upper and lower limbs can also present malformation.After the syndrome diagnosis, the patient had undergone both plastic surgery to reconstruct the en-cephalocele and further treatment of the skin lesion in parietal-occipital-temporal regions. Becauseof the scarcity of skin, the lesion was not totally covered, and we have chosen to wait for the clini-cal outcome to perform further approaches. At the age of three months, the child died due to res-piratory failure. She had been intubated with mechanical ventilation for 7 days.

    Key words: Skin manifestations; Encephalocele; Scalp; Respiratory insufficiency; Abnormali-ties, multiple

    * Fisioterapeuta. Especialista em Fisioterapia Peditrica, Hospital de Base, So Jos do Rio Preto. Supervisora do Estgio de Fisioterapia Crdio Respiratriada Universidade Paulista (UNIP), So Jos do Rio Preto. E-mail: jannafisiot@bol.com.br, jannafisiot@hotmail.com

    ** Fisioterapeuta. Especialista em Fisioterapia Neurolgica pela Universidade de So Paulo (USP). Mestre em Cincias da Sade pela USP.*** Aluna do Curso de Fisioterapia da UNIP, So Jos do Rio Preto.**** Fisioterapeuta da Faculdade de Medicina de So Jos do Rio Preto (Famerp). Doutor em Cincias da Sade pela Famerp. Coordenador do Curso de Fisio-

    terapia da UNIP, So Jos do Rio Preto.

    Introduo

    A sndrome de Adams-Oliver uma doena rara comdeterminadas reas do corpo sem a presena de pele aonascimento, na maioria das vezes, reas esparsas docouro cabeludo. Descrita inicialmente por Cordon em1767 que relatou leso no membro superior de um pa-ciente2,8.

    Henriques et al.2 (2004) relataram que em 1826, Camp-bell publicou o primeiro relato da leso em couro cabe-ludo, local de ocorrncia em 84% dos pacientes, en-quanto o crnio acometido em 15% a 30% das vezes. caracterizada pela aplasia cutnea congnita e inci-dncia de um a cada 10.000 nascimentos2,9,14.Existem vrias hipteses para a malformao apresen-

    tada na sndrome, incluindo as de origem gentica, po-

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    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Sndrome de Adams-Oliver descrio clnica e acompanhamento da evoluo de um caso.Rev Inst Cinc Sade. 2009;27(2):136-9.

    Figura 1. Paciente com ausncia de pele e tecido subcutneo Figura 2. Ausncia de pododctilos nos ps direito e es-quero, hlux e segundo pododctilo malformado,sem a presena de unhas

    dendo ser de herana autossmica recessiva5,7,15.O diagnstico clnico, correspondendo ao achado f-

    sico da ausncia de pele ao nascimento, como uma feridaulcerada que pode atingir diferentes profundidades e en-volver o peristeo, crnio e dura-mter2,4.A histologia das leses superficiais demonstra ausn-

    cia da epiderme, de seus anexos e atrofia da derme. Asleses profundas que acometem a dura-mter so extre-mamente raras e tm mortalidade elevada. Em algumasocasies podem apresentar-se como falhas cutneas delargas dimenses, em qualquer regio do corpo1,16.Teorias tentam explicar a ocorrncia da malformao e

    acreditam em eventos isqumicos ou trombticos no fetoou na placenta; em defeitos no fechamento do tubo neu-ral; em necrose por presso localizada na pele do embrioe mesnquima adjacente; em anomalias vasculares e emadeses amniticas2,8,16.O trabalho em questo um relato de caso de um pa-

    ciente internado em nosso servio pblico aps o nasci-mento para investigao diagnstica e acompanhamentoda evoluo e possvel tratamento. Para descrio e me-lhor embasamento do presente estudo, foram pesquisa-dos artigos cientficos indexados na literatura atravs dasbases eletrnicas de dados PubMed, MEDLINE, LILACSe SciELO. Foram utilizadas treze referncias de artigos se-lecionados na lngua inglesa e trs referncias na lnguaportuguesa e os descritores de assunto: Adams-Oliver;Aplasia cutnea; Aplasia congnita. Desde o nascimentodo paciente at a data do bito, foram realizados acom-panhamentos dirios pela nossa equipe, assim como con-sultas no pronturio mdico.O objetivo deste estudo mostrar mais um relato de

    caso desta afeco por tratar de sua raridade e presenade vrias complicaes importantes, com provvel bito.A existncia de poucos trabalhos na literatura desperta ointeresse pela descrio de novos casos e novas abor-dagens de acordo com as possibilidades de cada pa-ciente.

    Relato de caso

    Paciente E.H.D.B, trs meses, sexo masculino, branco,nascido de parto cesrea, prematuro de 36 semanas, pe-queno para idade gestacional, peso ao nascimento de1,545 kg, nascido em 23/05/07 no Hospital de Base deSo Jos do Rio Preto, So Paulo. A me, 27 anos, primi-gesta, relatou que a gravidez foi indesejada, descobertacom seis semanas, mas no estava tomando medica-mentos ou realizando tratamentos e no fazia uso de dro-gas. Iniciou pr-natal com seis semanas, teve o acompa-nhamento completo, sem intercorrncias, nega ante-cedentes pessoais e familiares relacionadas com sndro-mes ou outras patologias neurolgicas. No foi informadasobre nenhum problema durante suas consultas de pr-natal, feitas em posto de sade da cidade.Em 30/04/07 sentiu fortes dores nas regies plvica e

    abdominal, acompanhadas de contraes e foi para oHospital de Base para exame clnico. O mdico de plan-to a internou alegando falta de ganho de peso da me eda criana.A criana nasceu dia 23/05/07 e foi avaliado pela

    equipe de pediatria de planto no momento do parto etido como estvel, ativo, reativo, corado, hidratado, cho-rou ao nascer, em respirao espontnea, Apgar 9/10,eupneico (40 respiraes por minuto) 150 batimentos porminuto, saturao perifrica de oxignio de 97%, semdesconforto respiratrio, com movimentao espontneade tronco e de membros.Apresentava malformao congnita em calota cra-

    niana, com ausncia de pele e tecido subcutneo, cons-tatada aplasia do couro cabeludo, com projeo de tecidocerebral e dura-mter, aparentando encefalocele (Figura1); malformao em membros inferiores e superiores, ca-racterizados por ausncia de pododctilos nos ps direitoe esquerdo, hlux e segundo pododctilo malformado,sem a presena de unhas (Figura 2), ausncia de falan-ges do segundo, terceiro e quarto quirodctilos da mo

  • esquerda; orelha displasia direita; trax em pectus es-cavatum e abdmen globoso e flcido.Colocado na incubadora aquecida com oxignio ina-

    latrio de 5 litros/minuto e levado para Unidade de Tera-pia Intensiva Neonatal para melhor investigao diag-nstica e tratamento adequado. Foi submetido savaliaes das equipes da neurocirurgia e da genticaque diagnosticaram como sndrome de Adams-Oliver,em 30/05/07.A ressonncia magntica de crnio indicou reas em

    calota craniana com ausncia de pele e tecido subcut-neo com cobertura irregular, aparentemente sem irrigaosangunea adequada, ausncia de calcificaes em re-gio parieto-occipital-temporal com exposio de teci-dos esbranquiado, confirmando encefalocele. O examefsico confirmou os achados no momento imediato aps oparto e restringiu mobilizao da criana para evitar fra-turas decorrentes da osteognese imperfeita. A radiogra-fia de trax mostrou deformidades de arcos costais, infil-trado retculo nodular difuso, demonstrando pulmeshipoplsicos.Em discusso com a equipe mdica, aps tomografia

    computadorizada de crnio, foi realizada em 18/06/07,com vinte e sete dias de vida, cirurgia plstica para cor-reo da encefalocele e posterior tratamento da lesocutnea na regio parieto-occipital-temporal.No houve intercorrncias pr e/ou ps-operatria,

    mantendo condies respiratrias estveis. O fechamentocompleto da calota craniana no foi possvel por escassezde pele para a cobertura da leso e discutiu-se a possi-bilidade de acompanhar a evoluo clnica para novasabordagens.Durante o acompanhamento da evoluo do paciente,

    desde os primeiros dias do nascimento, foi indicada alerta manipulao por osteognese imperfeita e por este mo-tivo no houve indicao da equipe mdica na realizaode fisioterapia motora e estimulao precoce da criana,bem como fisioterapia respiratria.O paciente permaneceu trs meses na incubadora com

    saturao de 97% em 5 litros/minuto de oxignio, mas em23/08/07, evoluiu com desconforto respiratrio caracteri-zado por cianose labial, queda brusca da saturao de97% para 60% mesmo com aumento da oferta de oxig-nio, seguido de sinais de insuficincia respiratria comoa retrao intercostal. A mdica responsvel realizou en-tubao orotraquel e o colocou na ventilao mecnica(ventilador da marca inter trs, modo de ventilao man-datria sincronizada intermitente), mas aps sete dias(30/08/07), a criana foi a bito.

    Discusso

    Sndrome de Adams-Oliver uma desordem extrema-mente rara com defeitos e anormalidades fsicas asso-ciadas que variam entre os indivduos afetados. H umavariabilidade extrema na severidade dos problemas, al-guns casos podem ser muito severos, enquanto outrosmais amenos2,8.Dados estatsticos indicam o acometimento do couro

    cabeludo em 60% de todos os casos de aplasia cutnea

    congnita, 12% em tronco e em flancos e 25% em mem-bros inferiores8,10,12.A herana gentica autossmica dominante descrita

    na maioria dos casos, contudo, casos espordicos de ori-gem autossmica recessiva so relatados. Segundo Tem-tamy et al.13 (2007) em seu recente estudo fornecem evi-dncias clnicas e hereditariedade gentica e suporta apresena de uma variante recessiva da sndrome deAdams-Oliver.A sndrome de Adams-Oliver uma anomalia com-

    plexa, congnita e rara, caracterizada por aplasia con-gnita da ctis e defeitos dos membros e extremidades.O mecanismo patofisiolgico responsvel por tais defei-tos e malformao permanece desconhecido, com hip-teses de circulao deficiente em determinadas reasdurante um perodo crtico do desenvolvimento7, 9, 15.Verdyck et al.15 (2006) relataram a alta incidncia demal-

    formao cranioenceflicas associadas aplasia de courocabeludo e recomenda a avaliao rotineira desse seg-mento corpreo com a ajuda de tomografia computadori-zada, ressonncia magntica e ultrassom craniano. Em seuestudo, realizou exame de ressonncia magntica de cr-nio para melhor investigao e acompanhamento do caso,cujo exame apresentou reas em calota craniana com au-sncia de pele e tecido subcutneo com cobertura adja-cente irregular aparentemente sem irrigao sanguneaadequada, ausncia de calcificaes em regio parieto-occipito-temporal com exposio de tecido esbranquiado.Opes de tratamentos so discutidas na literatura, de

    acordo com o tipo e a extenso da leso. Quando pe-quenas, com acometimento de pele e subcutneo, opta-se por cicatrizao por segunda inteno, quando maio-res e/ou mais extensas, h indicaes de tratamentocirrgico1,4-5.Dificuldades tcnicas para o tratamento cirrgico so

    geralmente por escassez de tecido subcutneo, m adap-tao dos retalhos cutneos sobre o leito da ferida e difi-culdade na absoro dos enxertos sseos que podemocorrer quando estes so colocados sobre enxertos dedura-mter1,4,16.Garzon e Schweiger1 (2004) relataram que h possibi-

    lidades do diagnstico mdico ocorrer no pr-natal, atra-vs de ultrassonografia no final da gestao, embora comimpreciso da descrio da malformao.O prognstico parece estar comprometido, depen-

    dendo da sequela e do seu tratamento, geralmente ocorrebito por alteraes respiratrias graves, em decorrnciada influncia das alteraes da parede torcica no de-senvolvimento do pulmo durante o perodo embrionrioe por alteraes na mecnica respiratria apresentadaaps o nascimento3,6,11.No entanto, o objetivo do presente estudo, foi relatar o

    caso de uma criana portadora da sndrome de Adams-Oliver, na tentativa de contribuir com a descrio de maisum caso para a literatura, pela afeco ser rara. O relatoem questo apresentou malformao, consistindo de au-sncia parcial da calota craniana, com ausncia de pelee tecido subcutneo, malformao congnita em mem-bros distais e comprometimento do sistema respiratrio,causa do bito aps sete dias de ventilao mecnica.

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    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Sndrome de Adams-Oliver descrio clnica e acompanhamento da evoluo de um caso.Rev Inst Cinc Sade. 2009;27(2):136-9.

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    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Sndrome de Adams-Oliver descrio clnica e acompanhamento da evoluo de um caso.Rev Inst Cinc Sade. 2009;27(2):136-9.

    Concluso

    Descobertas na sndrome de Adams-Oliver ocorremdesde a etiopatologia, melhor mtodo diagnstico e tra-tamentos das afeces, mas ainda h necessidade da in-terao da equipe multidisciplinar, com auxlio da fisiote-rapia quando houver necessidade de estimulaoprecoce, fisioterapia motora, fisioterapia respiratria, comnfase em drenagens posturais e interveno ventilatria,

    para oferecer qualidade de vida aos pacientes. Em casosem que h osteognese imperfeita, como na criana es-tudada, no h indicao de fisioterapia, a no ser acom-panhamento da ventilao mecnica.A importncia deste relato no intuito de contribuir

    com mais um caso para a literatura, por ser uma doenarara e de diagnstico, tratamento e prognstico reserva-dos. So necessrios outros trabalhos para enriquecer aliteratura e as equipes multidisciplinares envolvidas.

    1. GarzonMC, Schweiger E. Cutis marmorata telangiectatica congenita. Se-min Cutan Med Surg. 2004;23(2):99-106.

    2. Henriques JGB, Pianetti Filho G, Giannetti AV, Henriques KSW. Extensafalha cutnea e craniana em paciente com aplasia cutis congnita. ArqNeuropsiquiatr. 2004;62(4):1108-11.

    3. Maniscalco M, Zedda A, Faraone S, de Laurentis G, Verde R, Molese Vet al. Association of Adams-Oliver syndrome with pulmonary arteriove-nous malformation in the same family: a further support to the vascularhypothesis. Am J Med Genet A. 2005;136(3):269-74.

    4. Mempel M, Abeck D, Lange I, Strom K, Caliebe A, BehamA et al. Thewide spectrum of clinical expression inAdams-Oliver syndrome: a reportof two cases. Br J Dermatol. 1999; 140(6):1157-60.

    5. Patel MS, Taylor GP, Bharya S,Al-Sannaa N,Adatia I, Chitayat D et al.Abnormal pericyte recruitment as a cause for pulmonary hypertension inAdams-Oliver syndrome. Am J Med Genet A. 2004;129A(3):294-9.

    6. PiazzaAJ, Blackston D, SolaAA.Acase ofAdams-Oliver syndrome withassociated brain and pulmonary involvement: further evidence of vascu-lar pathology? Am J Med Genet A. 2004;130A(2):172-5.

    7. Rajabian MH,Aghaei S.Adams-Oliver syndrome and isolated aplasia cu-tis congenita in two siblings. Dermat Online J. 2006;12(6):17-20.

    8. ReiffABM, BonattoAJ, Figueiredo JCA, Sosa S, Dolhnikoff M, MlegaJM.Aplasia cutnea congnita extensa de tronco e insuficincia respira-tria: relato de caso. An Bras Dermatol. 2000;75(3):323-32.

    9. Rhee ST, Colville C, Buchman SR. Complete osseous regeneration of alarge skull defect in a patient with cutis aplasia: a conservative approach.J Craniofac Surg. 2002;13(4):497-500.

    10. Sankhyan N, Kaushal RK, Jaswal RS. Adams-Oliver syndrome: a casewith complete expression. J Dermat. 2006;33(6):435-6.

    11. Savarirayan R, Thompson EM,Abbott KJ, Moore MH. Cerebral corticaldysplasia and digital constriction rings in Adams-Oliver syndrome. AmJ Med Genet. 1999;86(1):15-9.

    12. Singman R,Asaikar S, Hotson G, Prose NS.Aplasia cutis congenita andarteriovenous fistula case report and review. Arch Neurol.1990;47(11):1255-8.

    13. Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Adams-Oliver syn-drome: further evidence of na autosomal recessive. Clin Dysmorphol.2007;16(3):141-9.

    14. Verdyck P, Holder-Espinasse M, Van HulW,Wuyts W. Clinical and mo-lecular analysis of nine families withAdams-Oliver syndrome. Eur J HumGenet. 2003;11(6):457-63.

    15. Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W.Adams-Oliver syndrome: clinical description of a four generation fa-mily and exclusion of five candidate genes. Clin Genet. 2006;69:86-92.

    16. Whitley CB, Gorlin RJ.Adams-Oliver syndrome revisited.Am JMed Ge-net. 1991;40(3):319-26.

    Recebido em 15/5/2008Aceito em 27/01/2009

    Referncias

  • Rev Inst Cinc Sade2009;27(2):140-3 PHYSIOTHERAPY

    Adams-Oliver syndrome clinical description and follow-up of anevolution of a case

    Janana Aparecida Soares*Clarissa Ramirez**Lvia Karina Ferreira Ventura***Marcelo Adriano Ingraci Barbosa****

    AbstractIntroduction Adams-Oliver syndrome or Aplasia Cutis Congenita (ACC) is a rare condition cha-

    racterized by a congenital absence of a localized or generalized area of skin at birth. It most oftenoccurs as small lesions in the scalp, which at birth could have already been healed, or it may re-main a shallow ulcer until it becomes a deep ulceration, occasionally impairing the meninges. Dueto Adams-Oliver syndrome singularity, we report a case of a child who was born with a gestationalage of 36 weeks with a congenital malformation, such as partial absence of the skullcap, absenceof skin and subcutaneous tissue, and the upper and lower limbs can also present malformation.After the syndrome diagnosis, the patient had undergone both plastic surgery to reconstruct the en-cephalocele and further treatment of the skin lesion in parietal-occipital-temporal regions. Becauseof the scarcity of skin, the lesion was not totally covered, and we have chosen to wait for the clini-cal outcome to perform further approaches. At the age of three months, the child died due to res-piratory failure. She had been intubated with mechanical ventilation for 7 days.

    Key words: Skin manifestations; Encephalocele; Scalp; Respiratory insufficiency; Abnormali-ties, multiple

    * Physiotherapist, Pediatric Physical Therapy Specialist, Hospital de Base, So Jos do Rio Preto, SP, Brazil. Cardiorespiratory Physical Therapy Internship Su-pervisor, University Paulista (UNIP), So Jos do Rio Preto, SP, Brazil. E-mail: jannafisiot@bol.com.br

    ** Physiotherapist. Neurologic Physical Therapy Specialist, University of So Paulo (USP). Master of Health Science (MHSc), USP. Neurological Physical The-rapy Internship Supervisor, UNIP, So Jos do Rio Preto, SP, Brazil.

    *** Physical Therapy Undergraduate Student,UNIP, So Jos do Rio Preto, SP, Brazil.**** Physiotherapist, Medical School, So Jos do Rio Preto (Famerp), So Jos do Rio Preto, SP. Doctor of Health Science (DHSc), Famerp, So Jos do Rio Preto.

    Coordinator, Physical Therapy Graduate Course, So Jos do Rio Preto.

    Adams-Oliver syndrome is a rare disease characteri-zed by a congenital absence of a localized or generalizedarea of skin at birth; most often scattered areas of thescalp. The disorder was first identified by Cordon in 1767,who reported a patients upper limb lesion2,8.Henriques et al.2 (2004) reported it in 1826, Campbell

    published the first report of a scalp lesion, site of occur-rence in 84% of the patients, while the skull is affected in15% to 30% of the cases. It is characterized by the apla-sia cutis congenita and an incidence of 1:10,000 births2,9,14.There are many hypotheses regarding the syndrome

    malformation including those of genetic origin and reces-sive autosomal inheritance5,7,15.The clinical diagnosis corresponding to the physical

    finding of skin absence at birth, like an ulcerated woundwhich can extend into deeper tissues of an organ and in-volve the periosteum, skull and dura mater2,4.The histology of the superficial lesions shows absence of

    epidermis and its appendages, and atrophy of the dermis.The deeper lesions affecting the dura mater are extre-

    mely rare and have high mortality rate. In some cases thelesions can present as more extensive lesions of the skinand may occur anywhere on the skin surface1,16.Theories attempting to explain the malformation occur-

    rence are related to the findings of ischemia or thrombo-sis in the fetus or the placenta; failure of the neural tube to

    close normally; pressure necrosis localized in the embryoskin and underlying mesenchyma; vascular anomalies;and amniotic adhesions2,8,16.The present study is a case report of a patient admitted

    to our public health service to perform a diagnostic eva-luation and a follow-up of the disease course to determinethe suitability for a particular treatment modality. We sear-ched scientific articles indexed in the literature databases,such as PubMed, MEDLINE, LILACS, and SciELO usingthe following medical subject headings: Adams-Oliver,Cutis Aplasia, and Congenital Aplasia. After careful review,we selected 16 articles; 13 articles in English and 3 articlesin Portuguese. The patient was followed up from deliveryto death by our medical staff on daily basis, and researchto the medical chart was performed as well.The aim of the present study is to present another case re-

    port related to this rare condition due to the rarity of caseswithlarge defects andmajor complications, which lead to death.Given the scarcity of this condition reported in the literature,interest has also grown around the report of new cases andnew approaches according to each patients possibilities.

    Case report

    Patient E.H.D.B, age 3-month old, male, white, preterminfant born on May 23, 2007, at a gestational age of 36

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    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Adams-Oliver syndrome clinical description and follow-up of an evolution of a case. RevInst Cinc Sade. 2009;27(2):140-3.

    weeks by C-section, small for his gestational age, weigh-ting at birth 1545 g, at the Hospital de Base, So Jos doRio Preto, SP, Brazil.The mother, aged 27 years, primigenial reported an un-

    wanted pregnancy. She was 6 weeks pregnant when sherealized she was pregnant. At the time, she was not on me-dication or on treatment, and she was not taking anydrugs. She started prenatal care at 6 weeks gestation andshe had been followed the entire time. The pregnancy wasuneventfully. She denied familiar and personal history re-lated to syndromes or neurologic pathologies. On the pre-natal follow-up, at the public health outpatient service,she was not informed of any complication.On April 30, 2007 she came to Hospital de Base com-

    plaining of strong pains in pelvic and abdominal region fol-lowed by uterine contractions. A physical examinationwas performed. She was admitted to hospital due to thebaby and the mothers low weight gain.The child was born on May 23, 2007 and was evaluated

    by the pediatric staff on duty. At the moment of birth, thechild was stable, active, responsive, red-face, hydrated,breathing spontaneously, Apgar 9/10, eupneic (40 breathsper minute), heart rate at 150 beats per minute, periphe-ral oxygen saturation of 97%, without respiratory distress,and moving spontaneously trunk and limbs.At birth, the patient presented congenital malformation

    of the brainpan, denoted by an absence of skin and sub-cutaneous tissue; scalp aplasia was evident with hernia-tion of brain substance and dura mater suggesting en-cephalocele (Figure 1); upper and lower limbmalformations characterized by missing toes on both feet,malformation of both great toe and second toe with mis-sing toenails (Figure 2), absence of phalanges of index,middle, and right fingers of left hand; right ear abnormaltissue development, pectus excavatum, and a round andflaccid abdomen.The baby was placed into a warm baby care incubator

    with supplemental oxygen flow of 5 L/min and referred tothe Neonatal Intensive Care Unit to have a better diagno-

    sis and an adequate treatment. The baby was evaluatedby neurosurgeons and clinical geneticists. On May 30,2007, the baby was diagnosed with Adams-Oliver syn-drome.Magnetic resonance imaging of the skull showed areas

    poorly covered, with absence of skin and subcutaneoustissue apparently without adequate blood supply in thebrainpan; absence of calcifications in the parieto-occipi-tal-temporal region exposing the white substance, whichconfirmed encephalocele. Physical examination corrobo-rated the findings found immediately postpartum and thebaby has his movements restrained to avoid fractures dueto osteogenesis imperfecta. Radiograph of the thorax sho-wed deformities of the costal arches, and diffuse reticulo-nodular infiltrate showing hypoplastic lungs.In the consultation with physicians and surgeons to

    evaluate the nature and progress of disease and to esta-blish diagnosis, prognosis, and/or therapy, and after skullCT, the patient underwent plastic surgery on June 18,2007, at 27 days of age, to correct the encephalocele andfurther treatment of the skin lesion in the parieto-occipital-temporal region.There were no pre- and/or postoperative events and res-

    piratory conditions were stabilized. The thorough closureof the brainpan was not achieved due to skin scarcity tocover the lesion. It was discussed the feasibility to follow-up the clinical course to plan new approaches.The patient was followed-up since the first weeks of life

    and warning notes were given regarding the osteogenesisimperfecta manipulation; therefore, motor physiotherapyand early stimulation were not recommended by the me-dical staff, as well as respiratory therapy.The patient remained for three months in the incubator

    with oxygen saturation of 97% in an oxygen flow of 5L/min. However, on Oct 23, 2007, the patient progressedto respiratory discomfort characterized by perioral cya-nosis followed by a sudden drop of the oxygen saturationfrom 97% to 60%, even with oxygen delivery followed bysigns of respiratory failure, such as intercostal retraction.

    Figure 1. Patient with absence of skin and subcutaneous tissue Figure 2. Clinical presentation: in right ald left feet, absenceof toes; malformation of great toe and second toeand absence of finger nails

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    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Adams-Oliver syndrome clinical description and follow-up of an evolution of a case. RevInst Cinc Sade. 2009;27(2):140-3.

    Orotraqueal intubation and mechanical ventilation (venti-lator Inter-3, synchronized intermittent mandatory ventila-tion SIMV Intermed, So Paulo, SP, Brazil) were per-formed by the physician on duty. On Oct 30, 2007, justseven days after the procedure, the patient died.

    Discussion

    Adams-Oliver syndrome is an extremely rare disorderwith a variety of associated physical defects and abnor-malities very variable between different affected indivi-duals. The disease severity can be extremely high rangingfrom mild to very severe defects2,8.According to the statistical data, scalp lesions affect 60%

    of all patients with aplasia cutis congenita; trunk and flank areinvolved in 12% of all cases; and lower limbs in 25%8,10,12.Autosomal dominant inheritance is reported in the ma-

    jority of the cases; however sporadic cases of autosomalrecessive mode of transmission are reported. A recentstudy by Temtamy et al.13 (2007) provide further evidenceof clinical and genetic heterogeneity and support the pre-sence of autosomal recessive variant of Adams-Oliversyndrome.Adams-Oliver syndrome is a rare congenital anomaly

    complex characterized by aplasia cutis congenital and ex-tremities and limbs defects. The pathophysiological me-chanism of this syndrome remains unknown, but markeddecrease circulation in certain areas during critical deve-loping period has been hypothetized7,9,15.Verdyck et al.15 (2006) report the high incidence of cra-

    nioencephalic malformations associated with aplasia cu-tis congenital. Routine evaluation of this body segmentthrough CT, magnetic resonance imaging, and skull ultra-sound scans are recommended. Skull magnetic reso-nance imaging scan was performed to better investigateand follow-up of the case. Magnetic resonance imaging ofthe skull showed areas poorly covered, with absence ofskin and subcutaneous tissue apparently without ade-quate blood supply in the brainpan; absence of calcifica-tions in the parieto-occipital-temporal region exposing thewhite substance.Management options have been discussed in the lite-

    rature according to the pathogenesis and the extent of skininvolvement. When minor lesions are affecting skin andsubcutaneous tissue, the healing of a wound otherwise

    than by first intention is preferred. When lesions are largerthey may be treated surgically1,4-5.Technical difficulties related to surgical treatment are

    due to scarcity of subcutaneous tissue, maladjustment ofthe skin flaps over the wound bed, and malabsorption ofbony grafts when these are placed over the covering duramater grafts1,4,16.Garzon and Schweiger1 (2004) reported the possibility

    to make a prenatal diagnosis through ultra-sound scan atthe end of the pregnancy, although without an accuratedescription of the malformation.The prognosis appears to be compromised depending

    on the sequel and its treatment. The patient death due tosevere respiratory alterations is the direct result of the in-fluence on the chest wall alterations over the develop-ment of the lung in the embryo and, also, of the severechanges of respiratory mechanics exhibited after birth3,6,11.However, the aim of this study was to report a case of a

    child with Adams-Oliver syndrome attempting to make asignificant contribution to literature with the description ofone more case of this most rare manifestation of the syn-drome. The present case report consisted of a malforma-tion with partial absence of the brainpan, absence of skinand subcutaneous tissue, distal limbs congenital malfor-mation, impairment of the respiratory system, and death af-ter mechanical ventilation on day 7.

    Conclusion

    New findings on Adams-Oliver syndrome occur sincethe etiopathology, better diagnostic method and treatmentof the clinical manifestations, but there is still need of in-teraction of the multidisciplinary team, employing physicaltherapy whenever early stimulation, motor and respiratoryphysiotherapy are needed, emphasizing the postural drai-nages and the ventilatory intervention in order to providea better quality of life to the patients. In cases where the os-teogenesis imperfecta occurs, such as in the child in thepresent case report, there is recommendation of physicaltherapy, except a follow-up of mechanical ventilation.The importance of this case report is to make a contri-

    bution to literature with one more case, once it is a rare di-sease and of reserved diagnosis, treatment, and progno-sis. Further studies are needed to enrich the literature andthe multidisciplinary teams involved.

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    1. GarzonMC, Schweiger E. Cutis marmorata telangiectatica congenita. Se-min Cutan Med Surg. 2004;23(2):99-106.

    2. Henriques JGB, Pianetti Filho G, Giannetti AV, Henriques KSW. Extensafalha cutnea e craniana em paciente com aplasia cutis congnita. ArqNeuropsiquiatr. 2004;62(4):1108-11.

    3. Maniscalco M, Zedda A, Faraone S, de Laurentis G, Verde R, Molese Vet al. Association of Adams-Oliver syndrome with pulmonary arteriove-nous malformation in the same family: a further support to the vascularhypothesis. Am J Med Genet A. 2005;136(3):269-74.

    4. Mempel M, Abeck D, Lange I, Strom K, Caliebe A, BehamA et al. Thewide spectrum of clinical expression inAdams-Oliver syndrome: a reportof two cases. Br J Dermatol. 1999; 140(6):1157-60.

    5. Patel MS, Taylor GP, Bharya S,Al-Sannaa N,Adatia I, Chitayat D et al.Abnormal pericyte recruitment as a cause for pulmonary hypertension inAdams-Oliver syndrome. Am J Med Genet A. 2004;129A(3):294-9.

    6. PiazzaAJ, Blackston D, SolaAA.Acase ofAdams-Oliver syndrome withassociated brain and pulmonary involvement: further evidence of vascu-lar pathology? Am J Med Genet A. 2004;130A(2):172-5.

    7. Rajabian MH,Aghaei S.Adams-Oliver syndrome and isolated aplasia cu-tis congenita in two siblings. Dermat Online J. 2006;12(6):17-20.

    8. ReiffABM, BonattoAJ, Figueiredo JCA, Sosa S, Dolhnikoff M, MlegaJM.Aplasia cutnea congnita extensa de tronco e insuficincia respira-tria: relato de caso. An Bras Dermatol. 2000;75(3):323-32.

    9. Rhee ST, Colville C, Buchman SR. Complete osseous regeneration of alarge skull defect in a patient with cutis aplasia: a conservative approach.J Craniofac Surg. 2002;13(4):497-500.

    10. Sankhyan N, Kaushal RK, Jaswal RS. Adams-Oliver syndrome: a casewith complete expression. J Dermat. 2006;33(6):435-6.

    11. Savarirayan R, Thompson EM,Abbott KJ, Moore MH. Cerebral corticaldysplasia and digital constriction rings in Adams-Oliver syndrome. AmJ Med Genet. 1999;86(1):15-9.

    12. Singman R,Asaikar S, Hotson G, Prose NS.Aplasia cutis congenita andarteriovenous fistula case report and review. Arch Neurol.1990;47(11):1255-8.

    13. Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Adams-Oliver syn-drome: further evidence of na autosomal recessive. Clin Dysmorphol.2007;16(3):141-9.

    14. Verdyck P, Holder-Espinasse M, Van HulW,Wuyts W. Clinical and mo-lecular analysis of nine families withAdams-Oliver syndrome. Eur J HumGenet. 2003;11(6):457-63.

    15. Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W.Adams-Oliver syndrome: clinical description of a four generation fa-mily and exclusion of five candidate genes. Clin Genet. 2006;69:86-92.

    16. Whitley CB, Gorlin RJ.Adams-Oliver syndrome revisited.Am JMed Ge-net. 1991;40(3):319-26.

    Received in 15/5/2008Accepted in 27/01/2009

    References

    Soares JA, Ramirez C, Ventura LKF, Barbosa MAI. Adams-Oliver syndrome clinical description and follow-up of an evolution of a case. RevInst Cinc Sade. 2009;27(2):140-3.

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