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Revista Brasileira de Anestesiologia

Print version ISSN 0034-7094

Rev. Bras. Anestesiol. vol.54 no.6 Campinas Nov./Dec. 2004 



Anesthesia in Mckusick-Kaufman syndrome patient. Case report*


Anestesia en paciente portadora de síndrome de Mckusick-Kaufman. Relato de caso



Adriano Bechara de Souza Hobaika, VI; Ziltomar Donizetti Borges, TSA, M.D.II; Vera Coelho Teixeira, TSA, M.D.III

IEx-ME2 em Anestesiologia do CET/SBA do Hospital Felício Rocho
IIAnestesiologista do Hospital Felício Rocho
IIIDiretora Científica da Sociedade de Anestesiologia de Minas Gerais; Coordenadora do CET/SBA do Hospital Felício Rocho





BACKGROUND AND OBJECTIVES: Mckusick-Kaufman syndrome is an uncommon disease, typically characterized by hydrometrocolpos, polydactyly and congenital heart defects. These patients are often submitted to different surgical procedures throughout their lives and the anesthesiologist must be prepared to deal with possible complications. This article aimed at reporting the anesthetic management adopted for a patient with this syndrome.
CASE REPORT: A 11-year-old, 37 kg, female with Mckusick-Kaufman syndrome, chronic renal failure, hypertensive encephalopathy and severe asthma was scheduled for surgical arterial-venous fistula preparation and removal of infected peritoneal dialysis catheter. Previous prolonged tracheal intubation was reported. Anesthesia was induced with alfentanil (1 mg), propofol (50 mg) and atracurium (25 mg) and was maintained with inhalational sevoflurane (2% to 4%) and intermittent IV alfentanil doses. Trachea was intubated without intercurrences and extubation was performed in the operating room after satisfactory neuromuscular function recovery.
CONCLUSIONS: Although Mckusick-Kaufman syndrome is a variable association of congenital defects, some standard anesthetic cares may be defined. This specific case presented complicating factors for anesthesia, and induction with propofol and alfentanil and maintenance with sevoflurane have provided the patient a perioperative period with minimal ventilatory and hemodynamic repercussions.

Key Words: ANESTHESIA, Pediatric; DISEASES: Mckusick- Kaufman syndrome


JUSTIFICATIVA Y OBJETIVOS: La síndrome de Mckusick-kaufman es una dolencia rara, caracterizada típicamente por hidrometrocolpos, polidactilia y defectos cardiacos congénitos. Pacientes portadores de esta enfermedad pueden ser sometidos a varios procedimientos cirúrgicos durante su vida y el anestesiologista debe estar preparado para posibles alteraciones. El objetivo de este artículo es relatar la conducta anestésica adoptada en una paciente portadora de este síndrome.
RELATO DEL CASO: Paciente del sexo femenino de 11 años, 37 kg, portadora del síndrome de Mckusick-Kaufman, insuficiencia renal crónica, encefalopatia hipertensiva y asma grave sometida a la retirada de catéter peritoneal infectado y a una confección de fístula arteriovenosa. Historia anterior de intubación prolongada. La anestesia fue inducida con alfentanil (1 mg), propofol (50 mg) y atracúrio (25 mg) y mantenida con sevoflurano (2% a 4%) y dosis fraccionadas de alfentanil. La tráquea fue intubada sin complicaciones y la extubación fue realizada en la sala de cirugía después del retorno satisfactorio de la función neuromuscular.
CONCLUSIONES: A pesar que el síndrome de Mckusick-Kaufman se trate de una asociación variable de defectos congénitos, algunas atenciones anestésicas comunes pueden ser definidas. Este caso presentó factores complicadores de la anestesia y la inducción con propofol y alfentanil y el mantenimiento con sevoflurano proporcionaron a la paciente una anestesia con mínimas repercusiones ventilatorias y hemodinámicas.




Mckusick-Kaufman syndrome is an uncommon recessive autosomal disease, more common in females and characterized by hydrometrocolpos (80% to 95%) and polydactyly (90%) which, when associated to congenital heart defects (10% to 20%) make up the typical triad of this disease 1. In female neonates it may present with abdominal distension requiring immediate decompression. In male patients, Mckusick-Kaufman syndrome seems to be limited to polydactyly, undescended testis, hypospadias and congenital heart defects. These patients may be scheduled for several surgical procedures and the anesthesiologist should be prepared for potential co-morbidities. Although being a variable association of congenital defects, some standard anesthetic cares may be defined. This report aimed at describing the anesthetic management adopted for a Mckusick-Kaufman syndrome patient.



A 11 years old, 37 kg, female, daughter of first cousins, with Mckusick-Kaufman syndrome, submitted to surgical arterial-venous fistula preparation and removal of infected peritoneal dialysis catheter. Patient presented the following diseases: severe bronchial asthma, severe hypertension, hypertensive encephalopathy, seizures and chronic renal failure secondary to major congenital hydronephrosis. Patient was under hemodialysis by needle-through-needle catheter inserted in the right femoral vein. Patient used enalapril, prednisone, phenobarbital, phentoin and erythropoietin. Patient had been submitted to the following surgical procedures: correction of vaginal atresia and hydrometrocolpos, polydactyly and poor intestinal rotation.

Patient had previous history of prolonged tracheal intubation, was allergic to cephalosporin, vancomicin, imipenem and iodine contrast. Preoperative evaluation revealed: hemoglobin 8.1 g/dL, platelet count 110,000 cels/mm³, serum sodium 137 mmol/L, serum potassium 3.8 mmol/L, urea 61 g/dL and serum creatinine 5.6 g/dL. ECG was normal. Patient was monitored with pulse oximetry, ECG and noninvasive blood pressure, being then oxygenated with 6 L.min-1 for 3 minutes. Anesthesia was induced with alfentanil (1 mg), propofol (50 mg) and atracurium (25 mg). After tracheal intubation, mechanical ventilation was adjusted to maintain PETCO2 close to 30 mmHg. Anesthesia was maintained with sevoflurane (2% and 4%) and intermittent IV alfentanil doses, in a total of 4 mg. Procedure went on without intercurrences and lasted 250 minutes. Patient was extubated in the operating room after TOF ratio equaled 0.9.



Little more than 69 Mckusick-Kaufman syndrome cases have been described 2 and significant problems related to airway handling of those patients have been reported. Because it is a variable association of congenital defects, evaluation is individualized, but some common anesthetic cares may be defined.

Preanesthetic care should include thorough airways evaluation because they may present defects such as tracheo-esophageal fistula, difficult tracheal intubation, tracheal ring, congenital tracheal stenosis 2-5 and anatomic changes related to prolonged tracheal intubation, such as sub-glottic stenosis. Mckusick-Kaufman patients have multiple risk factors for latex allergy, such as genito-urinary abnormalities, esophageal atresia, non-perforated anus, and mental retardation. For these reasons, latex allergy should be investigated 6. Careful cardiologic evaluation should be performed aiming at identifying structural heart changes for which the perioperative care should be planned by the anesthesiologist.

Hydrometrocolpos is the result of fetal cervical glands secretion retention in response to maternal hormone stimulation, associated to congenital vaginal atresia. It is presented in female neonates as large cystic abdominal-pelvic mass, which may determine compressive symptoms such as respiratory failure and hydronephrosis 7, and should be immediately surgically treated to prevent uterine rupture.

Several gastrointestinal changes may be found, such as ectopic anus, retrovaginal fistula, gallbladder atresia, poor intestinal rotation, duodenal atresia or congenital aganglionic megacolon, hence the need to check the possibility of intestinal obstruction and fast track intubation or intubation with the patient awaken. There might also be changes in eyes and bone structure, pituitary dysplasia, hemi-hypertrophy, congenital hip luxation and developmental retardation 2,7.

Our case had complicating anesthetic factors, such as severe bronchial asthma, uncontrolled hypertension and chronic renal failure. Induction with propofol and alfentanil and maintenance with sevoflurane have provided anesthesia without respiratory complications, in addition to assuring good hemodynamic stability. Monitoring of neuromuscular function recovery has allowed for safe tracheal extubation in the operating room.



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02. Pul N, Pul M, Gedik Y - McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. Am J Med Genet, 1994;49:341-343.        [ Links ]

03. el Hammar F, Dubreuil M, Benoit I et al - A difficult intubation of an infant with McKusick-Kaufman syndrome. Failure of the laryngeal mask-fibroscope sequence. Ann Fr Anesth Reanim, 1998;17:240-242.        [ Links ]

04. Cuyler JP, Giovanetto DR - Acute respiratory failure secondary to a complete tracheal ring. J Otolaryngol, 1992;21:54-55.        [ Links ]

05. Brouard J, Voirin J, Laloum D et al - McKusick-Kaufman syndrome and fatal congenital tracheal stenosis. Arch Fr Pediatr, 1988;45:373.        [ Links ]

06. Ortiz JR, Garcia J, Archilla J et al - Latex allergy in anesthesiology. Rev Esp Anestesiol Reanim, 1995;42:169-174.        [ Links ]

07. Esteban RMP, Losa JMO, Celis FP et al - The McKusick- Kaufman syndrome: a report of five new cases, including a male. An Esp Pediatr, 1996;44:493-495.        [ Links ]



Correspondence to
Dr. Adriano Bechara de Souza Hobaika
Address: Rua Elza Brandão Rodarte, 137/1602 Bairro Belvedere
ZIP: 30320-630 City: Belo Horizonte, Brazil

Submitted for publication November 10, 2003
Accepted for publication May 5, 2004



* Received from CET/SBA Serviço de Anestesiologia do Hospital Felício Rocho, Belo Horizonte, MG

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