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Print version ISSN 0034-7094
Rev. Bras. Anestesiol. vol.54 no.5 Campinas Sept./Oct. 2004
Anesthesia in child with Pallister-Killian syndrome. Case report*
Anestesia en niño con síndrome de Pallister-Killian. Relato de caso
José Roquennedy Souza Cruz, TSA, M.D.I; Rogério Luiz da Rocha Videira, TSA, M.D.II
IEx-anestesiologista da CMA-Hospital
e Maternidade São Luiz; Anestesiologista do Hospital Universitário
da Universidade Federal de Sergipe
IIAnestesiologista da CMA-Hospital e Maternidade São Luiz; Anestesiologista do Serviço de Anestesiologia do HC-FMUSP
BACKGROUND AND OBJECTIVES: Pallister-Killian
Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome
12. There is little information about PKS in the anesthetic literature. This
report aimed at discussing aspects of this syndrome that may be relevant to
CASE REPORT: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under general anesthesia. He was induced and maintained with sevoflurane under facial mask and oropharyngeal canulla. Pulmonary ventilation was manually assisted during induction. There has been no complication and the procedure was performed in outpatient regimen.
CONCLUSIONS: The importance of a thorough preanesthetic evaluation is emphasized due to possible malformations associated to PKS, including cardiopathies. Attention to difficult intubation or maintenance of the airways is recommended.
Key Words: ANESTHESIA, Pediatric; DISEASES: Pallister-Killian syndrome
JUSTIFICATIVA Y OBJETIVOS: La síndrome
de Pallister-Killian (SPK) es una rara enfermedad genética causada por
una anomalía, en mosaico, en el cromosoma 12. Hay poca información
sobre esta síndrome en la literatura anestésica. El objetivo de este
relato fue divulgar y discutir las características que pueden ser de interés
para la anestesia.
RELATO DEL CASO: Paciente del sexo masculino, 5 años de edad, fue sometido a anestesia general para la realización de resonancia magnética del cráneo. Presentaba las características típicas de la SPK: dismorfismo facial, alopecia temporal, micrognatismo, macroglosia, retardo mental, convulsiones y alteraciones pigmentares cutáneas. La anestesia fue inducida y mantenida con sevoflurano sobre máscara facial y cánula orofaríngea, con ventilación manual asistida durante la inducción. No hubo intercurrencias y el examen fue hecho en régimen ambulatorial.
CONCLUSIONES: La importancia de la evaluación pré-anestésica es enfatizada, debido a las malformaciones, inclusive cardíacas, asociadas a esta síndrome. Es recomendada la preparación para posible dificultad de intubación traqueal o de manutención de las vías aéreas.
Pallister-Killian Syndrome (PKS) is a genetic disease caused by isochromosome 12 anomaly 1,2. Patients feature facial dimorphism, hypopigmentary skin lesions, localized alopecia, mental retardation, seizures and may present congenital cardiopathies 1,3,4.
There is little information in the literature about the anesthetic handling of this syndrome, but many PKS patients have to be submitted to anesthesia for diagnostic investigation or surgical correction of multiple malformations.
This report aimed at spreading PKS knowledge and discussing possible interactions with anesthesia.
A 5-year-old male patient, 28 kg, with PKS, was scheduled for magnetic resonance (MRI) of the head for suspicion of hypothalamic tumor. Body weight had excessively increased in the last three months. Patient was under phenobarbital, carbamazepine, lamotrigine and clonazepam for seizures control which started two years before. Clinical history included controlled bronchial asthma and general anesthesia for MRI two years ago.
At physical evaluation, in addition to typical PKS facies, patient presented macroglossia and short neck. There were lower limbs pigmentary changes similar to skin erythema, in addition to left foot polydactylia. Heart and lung auscultations were normal, as well as echocardiography.
Patient was given no premedication. Materials for difficult intubation and esophageal thermometer were available. After monitoring with precordial stethoscope, cardioscopy and pulse oximetry (SpO2), inhalational anesthesia was induced thru face mask with sevoflurane and O2 in Mapleson D system. Venoclysis was achieved after induction with 22G catheter in right upper limb. Since patient presented adequate ventilation, general inhalational anesthesia was maintained under facial mask with the aid of oropharyngeal canulla. A rubber device was used to fix the mask to childs face. Spontaneous ventilation was maintained with manual positive pressure assistance only during induction. The anesthesiologist remained in the MRI room throughout the procedure. Exam lasted 50 minutes uneventfully. After emergence, patient was referred to the post-anesthetic care unit where he presented psychomotor agitation. He was then medicated with 2.5 mg intravenous midazolam, which provided anxiolysis and no SpO2 decrease. Patient was discharged from hospital two hours later.
PKS is a rare mosaic disease (genetic anomaly present in part of affected patients cells) caused by the presence of an extranumerary isochromosome 12p (chromosome 12 short arm) 1,2. This syndrome has been initially described in 1977 by Pallister in adults, and in 1981 by Killian in children. It is also known as Pallisters mosaic aneuploidy, Pallister-Killian-Teschler-Nicola syndrome or mosaic tetrasomy 12p 3,5,6.
This is the first report of anesthetic handling of a PKS patient in the Brazilian literature. There is only one previous report in the international literature 7.
Patients present facies with sparse hairs, bitemporal alopecia, prominent front, blepharoptosis, strabismus, hypertelorism, epicanthus, macrostomy with labial commissures bent downward, low ear implantation, short neck and macroglossia 1,3-6. Other common clinical aspects are hypopigmented skin spots, localized alopecia, severe mental retardation and seizures 1,3,4.
Physical characteristics change with age: facies become rougher, micrognathia progresses to prognathism and alopecia decreases or disappears. After initial hypotonia, hypertonia and contractures develop between five and ten years of age 3,4. Phenotypic presentation is variable, going from perinatal death to multiple congenital anomalies, in addition to the classic phenotype of facial dimorphism and mental retardation 8,9.
Diagnosis is given by phenotype and skin fibroblasts test, being the isochromosome usually absent in peripheral blood lymphocytes 3,4.
In our case, patient was born with left foot polydactylia. Cariotype was normal. After one year old, already with neuropsychomotor development retardation, patient was referred to a different geneticist who diagnosed PKS thru his phenotype.
Initial anesthesia concerns were the concomitant diseases, the risk of triggering malignant hyperthermia and the possible difficult intubation.
Many PKS patients have seizures. This patient was under chronic use of phenobarbital and other anticonvulsant drugs. These drugs should not be perioperatively withdrawn, and drug interactions, especially cytochrome p450 induction by phenobarbital, should be considered 10.
Patients skin pigmentary changes, typical of PKS, looked like an erythema, and could be taken by an allergic skin reaction if not detected before using any drug. Pigmentary changes vary from hypo to hyperpigmentation 2,3.
Heart malformations, absent in this patient, are present in 25% of cases and may include interventricular or atrial communication, aortic coarctation, arterial canal persistence, aortic stenosis, pericardial agenesis or hypertrophic cardiomyopathy 1.
Several muscle-skeletal diseases are associated to increased risk for malignant hyperthermia. Some PKS manifestations, such as strabismus and muscle hypertonia are considered associated to malignant hyperthermia 11. Since there was no information in the literature about PKS and anesthesia, and considering the patients previous exposure to general inhalational anesthesia, we decided to repeat this technique.
In spite of the short neck, micrognathia, macroglossia and other craniofacial dimorphisms, ventilation under facial mask was adequate. In the only literature report of PKS anesthetic handling (not yet published when we performed this childs anesthesia), tracheal intubation was easy and general anesthesia with sevoflurane, nitrous oxide, propofol, alfentanil and cisatracurium was associated to inguinal block with ropivacaine for orchidopexy 7. Due to different PKS phenotypes 8,9, one must be prepared to difficult airways handling: in addition to this patients features, hypo or hypertonies, prognathism, harelip, cleft palate and other laryngeal malformations may contribute to difficult ventilation and/or intubation 3,7,12.
Since PKS may involve several organs and systems, careful preanesthetic evaluation is critical for adequate definition of patients clinical conditions and associated risks. In our case, there have been no complications during general inhalational anesthesia with sevoflurane. Procedure was performed in outpatient regimen due to patients clinical condition and anesthesia duration. Hypothalamic tumor hypothesis was not confirmed by MRI.
Other PKS presentations may create different situations for the anesthesiologist who, much likely, will be able to employ other anesthetic techniques. It is important that new cases are reported in the literature to improve the knowledge of anesthesia for patients with this syndrome.
We acknowledge Mrs. Gracilda P. Costa Molina, Angela Borri, M.D. and Mrs. Miriam Lo Leggio for their help in this study.
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Dr. José Roquennedy Souza Cruz
Av. Dep. Sílvio Teixeira 10 Apto 303
Cond. Costa Brava, Ed. Barcelona
49025-100 Aracaju, Brazil
Submitted for publication September 29, 2003
Accepted for publication December 15, 2003
* Received from Hospital e Maternidade São Luiz, São Paulo, SP