Kabuki syndrome and its anaesthetic management.

Sir,

Kabuki syndrome (KS) is one of the rare congenital syndromes that presents with peculiar facial features, skeletal, cardiovascular, and renal abnormalities, along with craniofacial anomalies and mental retardation.[1] We are reporting a case of kabuki syndrome and its perioperative management, posted for laparoscopic orchidopexy. No case of Kabuki syndrome undergoing surgery has been reported from India to date, due to its rare incidence. A short review and potential anaesthetic problems are also discussed.

A four-year-old male child, weighing 13 kg was posted for laparoscopic orchidopexy, for right-sided undescended testis. History from the child's parents revealed that he was born vaginally at full term, but did not cry at birth (details not available). There was developmental delay and the child could not walk till the age of three-and-a-half years, along with a delay in speech development. There was also history of recurrent urinary tract infection in the past. On examination, there were externally rotated ears, a long palpebral fissure, arched eyebrows, and depressed nasal tip. There were also deformities in the fingers and toes, knocked knee, hypotonia of the limb muscles, and poor oral hygiene, with loose incisor teeth. Haematological and biochemical investigations showed no abnormalities except for a marginally raised blood level of urea (98 mg%) and serum creatinine (1.8 mg%), due to urogenital malformation and vesicoureteric reflux, generally associated with this disease. Echocardiography showed normal cardiovascular structure and function. We inserted the intravenous cannula in the ward after applying a eutectic mixture of local anaesthetic cream, for one hour. Intravenous midazolam 0.5 mg was used for anxiolysis. After attaching all the monitors, the patient was induced with propofol 30 mg and fentanyl 30 μg. The trachea was intubated with an uncuffed oral endotracheal tube (4.5 mm internal diameter) after relaxation with atracurium. The laryngeal mask airway was also kept ready as these patients often have difficult airway. For maintainance of anaesthesia, we used oxygen and air (50 : 50) and propofol infusion 30 mg/hour. We did not use any inhalation anaesthetic because of the increased risk of malignant hyperthermia in these patients with hypotonia. For maintainance of analgesia, fentanyl (7 μg) was used every half hourly. After completion of surgery, a residual neuromuscular blockade was antagonised with neostigmine and glycopyrrolate. The postoperative period was uneventful and the patient was discharged on the third postoperative day.

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa – Kuroki syndrome) is a rare congenital syndrome, which was initially described simultaneously by Niikawa et al.[2] and Kuroki et al.,[3] in 1981. Sporadic cases of KS are found all over the world, and in India it is mainly found in the eastern regions.[1] There is no gender preponderance. As the facial expression of these patients resembles the make-up of actors in Kabuki, the traditional Japanese play, the term kabuki make-up syndrome was suggested by Niikawa et al.[2] However, later the make-up portion of the original name had been discarded secondary to a concern that it might cause parenteral confusion or offence.

The most striking aspects of KS, which prompt the clinician to consider the diagnosis are the unique facial features of long palpebral fissures, with eversion of the lateral one-third of the lower eyelid, arched eyebrows with sparseness of the lateral one third, short columella with a depressed nasal tip, and prominent ears.[1] Currently there is no consensus regarding the diagnostic criteria for KS and also there is no confirmatory genetic test.[1] However, recently, duplication of the 8p22-8p23.1 region has been demonstrated by comparative genetic hybridisation in six patients with KS.[4] Based on the clinical findings mentioned by Niikowa and colleague, five cardinal manifestations have been described, which include ‘peculiar face’ in 100% of the patients, skeletal anomalies in 92% of the patients, dermatoglyphic abnormalities in 93% of the patients, mental retardation in 92% of the patients, and postnatal growth retardation in 83% of the patients [Figures 1 and 2].[5] Other minor abnormalities include hypotonia, cardiovascular anomalies, cleft lip and/or cleft palate, deformed vertebra, kidney and urinary tract malformation, and defective dentition.[6]

Figure 1

Externally rotated ears, long palpebral fissure, arched eyebrows, and depressed nasal tip

Figure 2

Deformity in the finger (padded finger)

The risk of anaesthesia is also increased because of cardiovascular (coarctation of aorta, atrial septal defect, ventricular septal defect, hypertrophic cardiomyopathy), urogenital (hydronephrosis, renal hypoplasia, cryptorchidism), neurological (seizure), and skeletal muscle (hypotonia) abnormalities,[1] which need careful preoperative evaluation. There may be airway problems due to micrognathia and cleft palate.[7] Hence, the anaesthesiologist needs to be especially prepared for a difficulty with the airway. Some patients may be getting anticonvulsants, for which there is an increased need for a non-depolarising neuromuscular blocker.[8] Finally, a good knowledge of the KS syndrome, with its various presentations, is a must for the safe administration of anaesthesia to these patients.