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Anesthesia: Essays and Researches

Case Report

Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure Vithal K. Dhulkhed1, Akshaya N. Shetti2, Pavan V. Dhulkhed3 Professor and Head, 2Assistant professor, 3Senior resident, Department of Anaesthesiology, Krishna Institute of Medical Sciences, Karad, Maharashtra, India

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Corresponding author: Dr. Akshaya N. Shetti, Department of Anaesthesiology, Krishna Institute of Medical Sciences, Karad, Maharastra, India. E‑mail: [email protected]

Abstract Laurence‑Moon‑Biedl Syndrome is primarily a rare, recessively inherited genetic disorder. The cardinal features are polydactyly, obesity and retinitis pigmentosa, mental retardation, genital hypoplasia and cardiac anomalies.This spectrum may extend and may also involve renal anomalies. Here, we report a rare case of 15‑year‑old boy who was overweight and suffering from Laurence Moon Biedl syndrome scheduled for closure of atrial septal defect. Key words: Airway, atrial septal defect, Laurence‑Moon‑Biedl syndrome, obesity

Introduction Two English Ophthalmologists, Laurence and Moon reported four cases of retinitis pigmentosa with marked night blindness and body changes of dwarfism, hypogenitalism and mental deficiency in 1866.[1] The syndrome is an autosomal recessive disorder.[2,3] In 1922 Biedl reported the additional observation of familial occurrence and polydactyly in association with the above findings. Thus, this complex became known as the Laurence‑Moon‑Biedl syndrome. A typical case of Laurence‑Moon‑Biedl syndrome is characterized by familial occurrence, 48%; mental retardation, 80%; obesity, 83%; genital dystrophy, 60%; retinitis pigmentosa, 68%; and polydactyly or syndactyly, 75%.[4] The cardinal features are polydactyly, obesity and Access this article online Website

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retinitis pigmentosa, mental retardation, genital hypoplasia and cardiac anomalies. This spectrum may extend and may also involve renal anomalies.[5] Other associated anomalies include, microphthalmia, nystagmus, squint, optic atrophy, myopia, ptosis, oxycephaly, deaf mutism, congenital heart disease, renal anomalies spastic paraplegia genuvalgum or other skeletal anomalies. There is a paucity of literature published on the anaesthetic management of patients with this syndrome.

CASE REPORT A 15‑year‑old boy presented with the chief complaints of breathlessness (New York Heart Association Grade II) on exertion since 6 years, which was insidious in onset, gradually progressive and the symptoms were relieved after taking rest. He gave the history of night blindness. The family history given by his father suggested that his elder siblings suffered from similar symptoms. He was overweight with body mass index of 24.3 kg/m2 (>85th percentile). Polydactyl of both the hands were noted, i.e., both hands had 6 fingers each [Figure 1]. The airway assessment showed a modified Mallampati Grade IV

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Dhulkhed, et al.: Atrial septal defect closure, Laurence Moon Biedl syndrome

Figure 1: Polydactyly

Figure 2: Mallampati grade IV

airway [Figure 2] and thyromental distance of 5 cm. Systemic examination revealed normal heart sounds with Grade II ejection systolic murmur and he was not in congestive cardiac failure. He was mentally retarded. The ophthalmologist gave the diagnosis of retinitis pigmentosa.

to drift in the nasopharyngeal temperature till 34°C. A total of 1000 ml of cardioplegia was used and given by anterograde route. ASD was repaired with pericardial patch and rerouting of coronary sinus was done. Patent foramen ovale was closed and cleft in AML was repaired. Rewarming was done with the nasopharyngeal temperature of up to 35°C and cardiopulmonary bypass was discontinued once all criteria were met. Total cardiopulmonary bypass time was 60 min. Heparin reversal was done with protamine sulphate. Post‑operatively patient received Inj. Fentanyl 0.5 mcg/kg/h. He was placed in high dependency unit, electively ventilated and extubated after 12 h of the surgery. His further course was uneventful.

The echocardiography showed ostium primum atrial septal defect (ASD) with left to right shunt, partial atrioventricular canal defect, cleft in anterior mitral leaflet (AML), mild mitral regurgitation, mild tricuspid regurgitation and maximum pulmonary pressure gradient of 30 mm hg. Routine blood investigations, renal, and liver function tests were within normal limits. Chest radiograph showed cardiomegaly. Electrocardiogram showed right bundle branch block. He was planned for the closure of ASD with AML repair. The patient was premedicated with oral lorazepam (1 mg) and pantoprozole (20 mg) on the previous night and in the morning. Keeping difficult intubation cart ready patient was premedicated with midazolam 0.05 mg/kg, induction was carried out with fentanyl 6 mcg/kg. Fentanyl was used for induction according to our institutional protocol and its known property of cardiovascular stability. Mask ventilation was easy. Tracheal intubation was facilitated by vecuronium 0.1 mg/kg. Cuffed Portex oral 7.5 mm endotracheal tube was passed. Anaesthesia was maintained with 50% oxygen in the air and 1% sevoflurane with volume control ventilation. Attempt to cannulate the right internal jugular vein failed due to short neck; however, left internal jugular vein cannulation could be achieved. Left femoral artery cannulation was done for invasive blood pressure monitoring. Patient underwent median sternotomy and cardiopulmonary bypass initiated after adequate heparinization. Inj fentanyl 5 mcg/kg, Inj Midazolam 0.05 mg/kg, and Inj Vecuronium 0.1 mg/kg was added to cardiopulmonary bypass pump. Patient was allowed

DISCUSSION Laurence‑Moon Biedl syndrome is a rare genetic disorder which syndrome has been associated with congenital heart diseases like ASD, ventricular septal defect, aortic stenosis, hypertrophy of the interventricular septum and dilated cardiomyopathy.[6] 15% of patients with ASD develop elevated pulmonary vascular resistance after adolescence. As a result of chronic volume overload, patients older than 40 years may develop right ventricular failure leading to atrial dysrhythmias, tricuspid regurgitation and eventually congestive cardiac failure.[7] In our case we observed polydactyly in both hands. Obesity is the one of the major feature of this syndrome. It usually begins in childhood and the severity increases with age, with the majority of cases exhibiting symptoms within the 1st year of life. The anaesthetic problems associated with this syndrome include obesity, short neck with consequent difficulty with venous access, and induction of anaesthesia due to behavioral activity. There are no data in the literature to suggest preferred anaesthetic and analgesic agents. Since the patient exhibited modified Mallampatti Grade IV airway, we kept the difficult intubation cart ready.

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Cormack‑Lehan grade was three. We could intubate the patient in a single attempt. Attempt to cannulate the right internal jugular vein failed. Anatomical distortions due to short neck might be responsible for the difficulty. We presently do not have the facility for ultrasound guided cannulation, however, left internal jugular vein cannulation could be achieved.

CONCLUSION In summary, general anaesthesia and cardiopulmonary bypass were safely performed in this patient with a rare congenital condition. Although no complication was encountered in our case, this syndrome has the potential for difficulties in managing the airway, difficulties in venous access and the management due to the cardiovascular system anomaly.

Acknowledgment The Author would like to thank the patient for providing consent to use his photograph in this article.

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REFERENCES 1.

Molitch M, Gladen RG, Pigott AW. The Laurence‑Moon‑Biedl syndrome. Endocrinology1935;19:682‑8. 2. Endo M, Tasaka Y, Matsuura N, Matsuda I. Laurence‑Moon‑Biedl syndrome (?) and Prader‑Willi syndrome (?) in a single family. Eur J Pediatr 1976;123:269‑76. 3. Verma SC, Saksena SP, Rodrigues FE, Bhargava N. Laurence Moon Bardet Biedl syndrome. Med J Armed Forces India 1992:48:239‑40. 4. Nadjmi B, Flanagan MJ, Christian JR. Laurence‑Moon‑Biedl syndrome, associated with multiple genitourinary tract anomalies. Am J Dis Child 1969;117:352‑6. 5. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, et al. The spectrum of renal disease in Laurence‑Moon‑Biedl syndrome. N Engl J Med 1988;319:615‑8. 6. Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet‑Biedl syndrome: Echocardiographic studies of 22 patients. Am J Med Genet 1994;52:164‑9. 7. Huntler C, Patrick M. Surgery of the heart and thoracic aorta. In:Thomas EJ, Hearly, Knight PR, editors. Wylie and Churchill‑Davidson’s, A Practice of Anaesthesia, 7th ed. London Arnold publisher; 1995. p. 745.

How to cite this article: Dhulkhed VK, Shetti AN, Dhulkhed  PV. Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure. Anesth Essays Res 2013;7:276-8. Source of Support: Nil, Conflict of Interest: None declared.

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Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure.

Laurence-Moon-Biedl Syndrome is primarily a rare, recessively inherited genetic disorder. The cardinal features are polydactyly, obesity and retinitis...
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