Paediatric Anaesthesia 1998 8: 159–161

Case reportAnaesthetic implications of Cornelia de Langesyndrome

L. MUNOZ CORSINI, G. DE STEFANO, M.C. PORRAS,S. GALINDO AND J. PALENCIAAnestesiologıa Reanimacion, Hospital del Nino Jesus, C/Menendez Pelayo, no 64. Madrid,Spain

SummaryCornelia de Lange syndrome is a congenital disease characterizedbasically by psychomotor retardation associated with a series ofmalformations (mainly skeletal craniofacial deformities together withgastrointestinal and cardiac malformations). We present the case of apatient who underwent trauma surgery, discuss the anaestheticproblems involved and their relationship to the malformations thatconstitute this syndrome.

Keywords: Cornelia de Lange syndrome; anaesthetic problems

Introduction Case report

A nine-year-old boy weighing 27.5 kg was scheduledCornelia de Lange syndrome (Amsterdam dwarfism (1)or ‘typus degenerativus Amstelodamensis’ (2)) is a rare to undergo trauma surgery for resection of ingrowing

toenails and partial resection of the distal phalangescondition (1 out of 60 000 live births (1)) of unknowngenetic aetiology. The duplication or partial trisomy of both his big toes because of a bony malformation.

His background included psychomotor retardationof chromosome 3 has been pointed out as a probablecause (3, 4) and dominant inheritance is most likelyinvolved (1, 4). Despite the low prevalence of thisentity (there being only 150 cases reported in the Table 1literature (1)), the patients are subjected to a Characteristic features of Cornelia de Lange syndromesuccession of surgical procedures, some elective to

%repair skeletal malformations (5) and others underMotor retardation 100

emergency conditions when intestinal complications Retarded bone maturation 50Mental retardation and initial hypertonia 100develop (6,7). This situation increases the probabilityHirsutism 97that an anaesthesiologist, especially one involvedSusceptibility to infections Variable

in paediatrics, will encounter a patient having this Gastrointestinal malformations VariableMicrobrachycephaly 93syndrome. Table 1 lists the typical characteristics.Micrognathia, macroglossia 97Micromelia 69Strabismus OccasionalCongenital heart disease

(ventricular septal defect) 29Correspondence to: Lourdes Munoz Corsini, C/Miguel Fluiters, Malformations of male genitalia 94no 35, 2, Guadalajara, 19001, Spain.

159 1998 Blackwell Science Ltd

160 L. M. CORSINI ET AL .

and four previous surgical procedures (adenoid- Discussionectomy, myringotomy and repair of right and left

Cornelia de Lange syndrome is a rare condition (1)cryptorchism); the anaesthetic records of the lastin which few individuals (one third (1)) survive thetwo operations indicated that he had experiencedearliest stage of life owing to aspiration-relatedsevere glottal spasm after tube withdrawal. Theproblems and an increased susceptibility topreanaesthetic assessment revealed features ofinfections (1, 3). Those who survive the first few yearspsychomotor retardation, microcephaly and micro-are obliged to undergo numerous operations, creatingmelia, as well as a nervous character that hindered thethe possibility that a paediatric anaesthesiologist willuse of exploratory apparatus, the general impression,eventually encounter the problems associated withhowever, was one of normality. The only preoperativethe management of these patients. Most of thelaboratory finding of interest was a low platelet countsituations leading to surgical treatment reported(54×109−1); coagulation was normal. Premedicationto date involve the repair of craniofacial skeletalconsisted of oral midazolam (0.5 mg·kg−1) and, givenmalformations (1, 4, 5), cosmetic procedures tothe type of surgery to be performed, antibioticcorrect hirsutism, laparotomies due to intestinalprophylaxis was administered.obstruction caused by malrotation, duplication orOnce in the operating room, the patient wasdetachment of the colon (resulting in the death ofmonitored in a standard way for this type of surgerymany of these patients (1, 7) and repair of other(EKG, noninvasive arterial pressure, pulse oximetryintestinal malformations such as hiatal hernia, pyloricand Peco2) and peripheral cannulation was achievedstenosis and inguinal hernia (6).after several unsuccessful attempts due to the agita-

The patients are especially uncooperative owingtion of the patient. Intravenous induction was thento their mental retardation (most have an intelligencecarried out, consisting of thiopentone (5 mg·kg−1)

succinylcholine (1 mg·kg−1) and atropine (0.02 mg·kg−1); quotient below 35), hyperactive behaviour in somecases and autistic in others (3) and the frequentfentanyl (1 lg·kg−1) was added for analgesia and there

were no problems. Despite the availability of a association of neurosensory auditory disorders (3, 8,9). Thus, preanaesthetic examination to assess thefibreoptic bronchoscopy, a 6-uncuffed tracheal tube

was introduced without incident and spontaneous cardiorespiratory function, of major importance inthese patients, is extremely difficult, as illustrated byventilation was maintained with O2/NO2/isoflurane;

Fio2 of 50% was required to achieve a Spo2 of 96% and our case. Often the patients are not even recognizedas having this syndrome since the clinical severityPeco2 of kPa (38–40 mm Hg). At this stage auscultation

revealed a systolic murmur that was more marked at varies widely (3). In any case, when skeletal mal-formations are indicative of this diagnosis, attemptsthe left parasternal margin. This finding, together with

previously undetected ‘drumstick fingers’, led to the must be made to fully examine the patients becauseof the probability of associated congenital cardiacsuspicion of the presence of a previously overlooked

cardiac abnormality. Postoperative EKG showed disease (occurring in 29% of cases (3)). Theconfirmation of the existence of cardiac pathologypartial rightbundlebranchblock,althoughthespecific

diagnosis remained undetermined as the patient necessitates the administration of antibiotics asprophylaxis against endocarditis (10).did not present himself for subsequent cardiological

examination. During the surgical procedure, the Preanaesthetic assessment of the possibledifficulties of intubation is also recommended givenpatient maintained haemodynamic stability with

normal arterial pressure (110/60) but with a persistent the association of short neck and macroglossia inthese patients (1, 3, 4, 10). Despite the fact that ourtachycardia (156–160 bpm). The surgical time was

approximately 30 min. Tube withdrawal provoked patient presented these features, intubation was notparticularly difficult, although a tube of a smallerglottal spasm requiring administration of 100% O2

for 15 min, after which the patient was transferred calibre than that appropriate for his age was needed.It is wise to prepare for this complication by havingto the ward with no further incidents. He was

discharged later that same day with no evidence of ready an introducer, a laryngeal mask and/or afibreoptic bronchoscope.complications.

1998 Blackwell Science Ltd, Paediatric Anaesthesia, 8, 159–161

CORNELIA DE LANGE SYNDROME 161

Preoperative sedation, though necessary because osteogenesis imperfecta, a syndrome which, likeof possible difficulties during induction with Cornelia de Lange syndrome is included among thenoncooperative and hyperactive behaviour, should osteochondrodysplasias. There are no previousbe light because of potential upper airway reports of low platelet counts in Cornelia de Langeobstruction (1, 3, 4, 10) and possible unpredictable syndrome; this finding was of little importance inresponses to drugs(2). our patient since the coagulation tests were normal

The short neck of these patients may also make and there was no unexpected bleeding-relatedcentral venous cannulation difficult once anaesthesia complication.has been induced (1, 10). Finally, the same malformations that cause

This syndrome is classified, together with others, repeated upper airway obstruction in these patientsas a mesomelic dysplasia (10). Thus, a shorter middle make glottal spasm following tube withdrawal thesegment of the upper and lower extremities is most common anaesthetic complication, as illustratedexpected, making necessary the use of a suitable by earlier anaesthetic reports concerning our patientarterial pressure cuff. and the events described.

Anaesthetic induction is of particular interest. On Once surgery is over and the patient is conscious,the one hand, we were obliged to use a rapid sequence the only two possible postoperative complications toinduction as in any case of emergency surgery in be aware of are unstable cardiac function, whichwhich the presence of intestinal malformation that on occasion has been the cause of postoperativemay lead to bowel obstruction has not been ruled death (1), and marked susceptibility to differentout. On the other hand, it is advisable to use an infections (1, 3, 6).induction agent such as etomidate or ketamine, which In conclusion, the preoperative assessment of acauses little depression of cardiac function which patient whose phenotype is indicative of psychicis often abnormal in these patients (10). The most and mental retardation should be thorough andcommon cardiac diagnosis is ventricular septal should focus on those systems making anaesthesiadefect (3, 6). This, together with repeated episodes of problematic, such as cardiac and respiratory function.upper airway obstruction, secondary to theassociation of micrognathia and macroglossia (4, 10),may lead to the development of pulmonary Referenceshypertension (10), which can generate problems of

1 Veall GRQ. An unusual complication of Cornelia de Langehypoxia and hypercapnia during anaesthesia. In our syndrome. Anaesthesia 1994; 49: 409–410.patient, an Fio2 somewhat higher than normal (35%) 2 Sargent WW. Anesthetic management of a patient with Cornelia

de Lange syndrome. Anesthesiology 1991; 74: 1162–1163.was necessary to achieve acceptable arterial O23 Patrones reconcibles de malformaciones. In: Jones KL. Atlassaturation (95–96%). The patient remained haemo-

de malformaciones congenitas, 4th ed. Mexico: Neuva Editorialdynamically stable except for tachycardia that Interamericana (McGraw-Hill), 1990: 80–81.

4 Ireland T, English C, Cross I et al. Partial trisomy 3q and thepersisted despite good analgesia, indicated by themild Cornelia de Lange syndrome phenotype. J Med Genetpresence of normal arterial pressure.1995; 32: 837.Suspected or confirmed pulmonary hypertension 5 Hems T. Cosmetic surgery for Cornelia de Lange syndrome.

precludes the use of nitrous oxide, which may Br J Pharmacol 1990; 43: 489–491.6 Bell C. Sındromes pediatricos e implacaciones anestesicas. In:increase the pulmonary vascular resistance, and of

Bell C. Manual de anestesia pediatrica. Barcelona: Doyma Ed,halothane in case of ventricular dysfunction, with its1994.

cardiac depressant effect. Isoflurane and narcotics 7 Hussain K, Fitzgerald P, Lau G. Cecal volvulus in the Corneliade Lange syndrome. J Pediatr Surg 1994; 29: 1245–1247.are probably the agents of choice in such cases (10).

8 Ichiyama T, Hayashi T, Tanaka H et al. Hearing impairment inThe association of strabismus with the develop-two boys with Cornelia de Lange syndrome. Brain Dev 1994;ment of malignant hyperthermia has been reported 16: 485–487.

in these patients (3, 4). Our patient did not present this 9 Kaga K, Tamai F, Kitazumi E et al. Auditory brainstem responsesin children with Cornelia de Lange syndrome. Int J Pediatrpathology, although the possibility of this extremelyOtorhinolaryngol 1995; 31: 137–146.serious complication should be borne in mind.

10 Berkowitz ID, Raja SN, Bender KS et al. Dwarfs:The presence of haemostatic deficiencies of a pathophysiolology and anesthetic implications. Anesthesiology

1990; 73: 739–759.multifactorial nature has been associated with

1998 Blackwell Science Ltd, Paediatric Anaesthesia, 8, 159–161