Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge

Dear Editor,

Seckel syndrome first described in 1960,¹ is an autosomal recessive disorder found in consanguineous marriages² characterized by severe IUGR, postnatal growth retardation, mental retardation, beak like face and retrognathia. Its incidence is less than 1 in 10,000 live births with 25% chances of recurrence in subsequent siblings.³ Nearly 60 cases have been reported till date with very few cases having being administered general anesthesia (GA). We report the first successful palatoplasty done under GA in a child with Seckel syndrome.

An eight-year-old male child with wide cleft palate presented with complaints of poor feeding, repeated upper respiratory infections and inability to verbalize clearly.

He had been conceived by IUI (donor husband), after 11/2 year of treatment of non-consanguineous parents with infertility. Mother had history of hypertension, diabetes, severe oligohydramnios and IUGR during antenatal period in all trimesters. Born at 34 weeks of gestation by normal vaginal delivery with birth weight of 930 g, he cried immediately after birth, but was kept on ventilatory support for almost 1 month in view of lung hypoplasia. His developmental milestones were slightly delayed; however, his two female siblings, also conceived by IUI, showed normal development with no evidence of Seckel syndrome. On examination, the child weighed 9.5 kg and had a height of 100 cm (Fig. 1). He had microcephaly, retroganthia, bird like face, large eyes, small low set ears, dental caries, long neck, clinodactly, bilateral elbow contracture, left undescended testis and urinary and fecal incontinence because of small spina bifida, high arch palate with incomplete cleft of palate. His routine blood investigations and echocardiography were normal. Chest X-ray showed a tubular cardiac shadow with downward slanting rib cage and normal lung fields. The patient was scheduled for a pushback palatoplasty under general anesthesia. In view of an anticipated difficult airway, we did not premedicate the child prior to the surgical procedure and kept a fully equipped difficult airway cart ready. After monitoring ECG, peripheral oxygen saturation and noninvasive blood pressure, general anesthesia was administered using inhalational induction with sevoflurane in titrated doses while preserving spontaneous respiration in view of an anticipated difficult airway. Due to the friability of veins, intravenous (i/v) cannulation was achieved with difficulty using 24G cannula. Injection fentanyl 15 µg was administered intravenously and after ascertaining chest rise with bag-mask ventilation, intravenous suxamethonium 1.5 mg/kg was given to facilitate endotracheal intubation. After an initial failed attempt with RAE tube size 6.0 mm due to narrowing in subglottic region of larynx, patient's trachea was intubated with un-cuffed RAE tube size 4.5 mm. Anesthesia was maintained with oxygen and air titrated with sevoflurane and intermittent doses of i/v atracurium. Pushback palatoplasty was done for incomplete cleft palate and intraoperative period, which lasted 75 minutes, was uneventful. At the end of surgery, trachea was extubated in an awake responsive child, after reversal of neuro-muscular block and establishment of adequate spontaneous respiration. Post-operatively, patient was kept in intensive care for monitoring of any apneic spells, respiratory failure or oral bleed. The patient was allowed liquids after 6 h. Patient's post-operative course was uneventful, and he was discharged after 5 days. Features present in patients with Seckel syndrome which maybe relevant to the anesthesiologist include presence of variable degrees of facial abnormalities, microcephaly, retrognathia, craniosynostosis, dental deformities, laryngeal stenosis, friable veins, mental retardation, anemia, pancytopenia and cardiovascular (PDA, hypertension, complex cardiac defects), osteoskeletal and endocrinal (congenital adrenal hyperplasia, hyperinsulinism) abnormalities.^{4 and 5} Our patient had quite a few variations from typical, classical Seckel syndrome as he was born to non-consanguineous married parents after IUI. He had borderline intelligent quotient with nearly normal comprehensive and non-verbal expressive language. He had no strabismus or cataract of eyes and also had normal hematological and nutritional profile because of which palatoplasty could be planned.

Figure 1
Child with Seckel syndrome.

Perioperatively, these patients can pose a number of challenges for the anaesthesiologists. Securing an intravenous access can be difficult, as was in our case, due to friability of veins. As the airway can also be difficult to ventilate and intubate in these patients, so all the equipment to deal with airway difficulties should be kept ready. Moreover, estimation of the correct tube size maybe difficult in these patients, with the age & weight of child failing to predict the size in approximately 53% of the cases. As the variations in tracheal tube size could range up to 11/2 sizes smaller than the predicted size, hence, the airway cart must include tubes 1-1/2 sizes smaller than that predicted. In our patient also we were able to intubate with 4.5 mm tube rather than with that of 6.0 mm which was considered normal for his age ([age in years + 16]/4). Other than the difficulty encountered in handling the hypoplastic palatal tissue during surgery, the intraoperative course was relatively uneventful. The patient had no postoperative complications like apneic spells or intraoral bleed as reported in literature⁴ and the palatal healing was normal on follow up.

Thus, to conclude such patients should be thoroughly evaluated preoperatively to rule out any cardiac or other systemic problem. Anesthetic problems because of difficult airway, long neck, narrow trachea and fragile veins should be anticipated and emergency measures should be kept ready to deal with any eventuality. The possibility of hematological abnormality like anemia, pancytopenia and leukemia should be preoperatively evaluated along with nutritional assessment.

References

• ¹
  Seckel HPG. Bird-headed dwarfs: studies in developmental anthropology including human proportions. Springfield: Charles C. Thomas; 1960.
• ²
  Shanske A, Caride DG, Menasse- Palmer L, et al. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet. 1997;70:155-8.
• ³
  Parent P, Moulin S, Munck MR, et al. Bird headed dwarfism in Seckel syndrome Nosologic difficulties. Arch Pediatr. 1996;3:55-62.
• ⁴
  Murthy J, Seshadri K, Ramanan P, et al. A case of cleft lip and palate associated with Seckel syndrome. Cleft Palate Craniofac J. 2004;41:202-5.
• ⁵
  Rajamani A, Kamat V, Murthy J, et al. Anaesthesia for cleft lip surgery in a child with Seckel syndrome-a case report. Paediatr Anaesth. 2005;15:338-41.

Publication Dates

• Publication in this collection
  May-Jun 2014