¨A síndrome de Costello (SC) é uma doença genética rara, descrita pela primeira em 1971, causada por mutações no proto-oncogene HRAS. Os achados clínicos incluem dismorfismo facial, distúrbios da pele, comprometimento cognitivo, defeitos cardíacos e musculoesqueléticos. Há um risco aumentado de malignidades nesses pacientes, especialmente rabdomiossarcoma, ganglioneuroblastoma e tumores de bexiga, devido à mutação proto-oncogênica, e também a morte súbita secundária a doenças cardíacas. A pesquisa da mutação por técnicas de biologia molecular é o padrão ouro para o diagnóstico da síndrome de Costello.¨
■ Age and ASD symptoms in Costello syndrome
Young O, Perati S, Weiss LA, Rauen KA.
Am J Med Genet A. 2018 Apr;176(4):1027-1028
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011828/
■ Costello syndrome: the challenge of hypoglycemia and failure to thrive
Leoni C, Flex E.
EBioMedicine. 2018 Jan;27:5-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828550/
■ Cytotoxicity of zardaverine in embryonal rhabdomyosarcoma from a Costello syndrome patient
Cartledge DM, Robbins KM, Drake KM, et al
Front Oncol. 2017 Apr 3;7:42
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376947/
■ Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome
Schwartz DD, Katzenstein JM, Highley EJ et a
Am J Med Genet A. 2017 May;173(5):1294-1300
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397350/
■ Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp
Bertola D, Buscarilli M, Stabley DL, Baker L, et al
Am J Med Genet A. 2017 May;173(5):1309-1318
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353/
■ Costello syndrome and umbilical ligament rhabdomyosarcoma in two pediatric patients: case reports and review of the literature
Sánchez-Montenegro C, Vilanova-Sánchez A, Barrena-Delfa S, et al
Case Rep Genet. 2017;2017:1587610
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288506/
■ The splicing efficiency of activating HRAS mutations can determine Costello syndrome phenotype and frequency in cancer
Hartung AM, Swensen J, Uriz IE, et al
PLoS Genet. 2016 May 19;12(5):e1006039
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873146/
■ Anaesthetic management in Costello syndrome
Akçıl EF, Dilmen ÖK, Tunalı Y
Turk J Anaesthesiol Reanim. 2015 Dec;43(6):427-30
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894188/
■ Respiratory system involvement in Costello syndrome
Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L.
Am J Med Genet A. 2016 Jul;170(7):1849-57
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842/
■ Síndrome de Costello: relato de caso e revisão da abordagem diagnóstica
A P R Pereira, S T F Grunewald
Residência Pediátrica 2016, vol 6 (3)
■ Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of hererozygosity in Costello syndrome driving clonal expansion
Karen W. Gripp, Katherine M. Robbins, Brandon S. Sheffield et a
Am J Med Genet A. 2016 Mar; 170(3): 559–56
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784973/
■ Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation
Blachowska E, Petriczko E, Horodnicka-Józwa A et al
Ital J Pediatr. 2016 Jan 26;42:10
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729164/
■ Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome
Uemura R, Tachibana D, Kurihara Y et al
Ultrasound Obstet Gynecol. 2016 Dec;48(6):799-80
https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.15888
■ Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome
Rooney GE, Goodwin AF, Depeille P et al
J Neurosci. 2016 Jan 6;36(1):142-52
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701956/
■ Costello syndrome: analysis of the porterior cranial fossa in children with posterior fossa crowding
Calandrelli R, D’Apolito G, Marco P, Zampino G, Tartaglione T, Colosimo C.
Neuroradiol J. 2015 Jun;28(3):254-8
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757298/
■ The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model
García-Cruz R, Camats M, Calin GA, et al
BMC Med Genet. 2015 Jul 3;16:46
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631104/
■ Na attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G> (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp KW, Sol-Church K, Smpokou P et al
Am J Med Genet A. 2015 Sep;167A(9):2085-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830354/
■ Costello syndrome with severe nodulocystic acne: unexpected significant improvement of achathosis nigricans after oral isotretinoin treatment
Sriboonnark L, Arora H, Falto-Aizpurua L et a
Case Rep Pediatr. 2015;2015:934865
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359863/
■ Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Kratz CP, Franke L, Peters H, Kohlschmidt N, et al
Br J Cancer. 2015 Apr 14;112(8):1392-7
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402457/
■ Cardiac events in Costello syndrome: one case and a review of the literature
Hakim K, Boussaada R, Hamdi I, Msaad H.
J Saudi Heart Assoc. 2014 Apr;26(2):105-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978860/
■ Craniofacial and dental development in Costello syndrome
Goodwin AF, Oberoi S, Landan M et al
Am J Med Genet A. 2014 Jun;164A(6):1425-30
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115793/
■ Syndrome in question. Costelo syndrome
Peixoto IL, Carreno AM, Prazeres VM, Chirano CA, Ihara GM, Akel PB.
An Bras Dermatol. 2014 Nov-Dec;89(6):1005-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230678/
■ Early-lethal syndrome due to rare HRAS Tanden Base susbstitution (c.35_36C>AA;p.G12E)-associated pulmonary vascular disease
Weaver KN, Wang D, Cnota J, et al
Pediatr Dev Pathol. 2014 Nov-Dec;17(6):421-3
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294968/
■ Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome
Wey M, Lee J, Jeong SS, Kim J, Heo J.
Biochemistry. 2013 Nov 26;52(47):8465-79.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918454/
■ C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome
Michael Klüppel, Payman Samavarchi-Tehrani, Kela Liu et al
Eur J Hum Genet. 2012 Aug; 20(8): 870–877
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400726/
■ Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia
Angela E. Lin, Barbara O’Brien, Laurie A. Demmer et al
Prenat Diagn. 2009 Jul; 29(7): 682–69
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293073/
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
Novo endereço:
Consultório: Rua Padre Rolim 815/sala 815
Tel: 33245518 (Consulta Particular/Unimed)
– Centro Médico Unimed BH/Contagem/Pedro I
Belo Horizonte/MG/Brasil
CRMMG: 7026
Email: pfleite1873@gmail.com