Arthrogryposis multiplex: Multiple congenital contractures. Anesthetic implications: 10% have congenital heart disease. Minimal thiopental required – muscles replaced by fat. Possible airway problem due to limitation of mandibular movement. If CHD present use antibiotic prophylaxis preoperatively.
Asplenia syndrome (Ivemark syndrome): Absent spleen, hiatus hernia characterized by a tendency for symmetric development of normally asymmetric organs, partial or complete situs inversus. Absent spleen, hiatus hernia characterized by a tendency for symmetric development of normally asymmetric organs, partial or complete situs inversus. Anesthetic implications: Very complex cardiovascular anomalies, present with cyanosis and heart failure. Antibiotic prophylaxis preoperatively; reverse isolation. Assess cardiovascular status carefully. Do not use cardiac depressants.
Ataxia-telangiectasia (Louis Bar syndrome): Cerebellar ataxia. Skin and conjunctival telangiectasia. Decreased serum IgA and IgE. 10% develop reticuloendothelial malignancy. Anesthetic implications: Defective immunity - recurrent chest and sinus infections. Bronchiectasis. Check Hb and Hct levels and pulmonary function if indicated. Treat anemia. Use sterile technique (reverse isolation). Do not use succinylcholine.
Bardet-Biedel syndrome: Mental retardation, pigmentary retinopathy, polydactyly, obesity, hypogenitalism. May have renal abnormalities and congenital heart defects. Anesthetic implications: Assess cardiac, renal, and fluid status. If CHD present use antibiotic prophylaxis preoperatively.
Bartter syndrome: Hypokelamic, hypochloremic metabolic alkalosis. Hyperreninemia, hyperaldosteronism and juxtaglomerular hyperplasia. Normotension. Overproduction of prostaglandin E. Growth retardation likely in prepubertal patients. Anesthetic implications: Subnormal response to norepinephrine. Abnormal acid-base and serum Na and K. Monitor fluid and electrolyte status intra- and postoperatively.
Beckwith syndrome (infantile gigantism): Birth weight > 4000 g. Macroglossia and omphalocele. Anesthetic implications: Persistent severe neonatal hypoglycemia (hyperinsulinism). Airway problems.
Behcet's syndrome: Gross ulceration of mouth (usually first sign; may extend to esophagus) and genital area, uveitis, iritis, conjunctivitis, skin lesions, non-erosive arthritis. May have vasculitis, myocardial and CNS involvement (spastic paresis, ataxia, seizures, coma and spinal cord lesions). Increased risk of sepsis. Anesthetic implications: Use sterile technique. May have history of steroid therapy. Nutritional status may be very poor. Intubation may be very difficult due to scarring in pharynx. Autonomic hyperreflexia is a potential problem with spinal cord involvement.
Bowen’s syndrome (cerebrohepatorenal syndrome): Hepatomegaly and neonatal jaundice. Polycystic kidneys. Associated congenital heart disease. Muscular hypotonia. Anesthetic implications: Hypoprothrombinemia. Care with renally excreted drugs and muscle relaxants.
Carpenter’s syndrome: Cranial synostosis. Associated congenital heart disease. Anesthetic implications: Hypoplastic mandible. Possibly difficult intubation. SBE prophylaxis where indicated.
Central core disease: Muscular dystrophy. Hypotonia without muscle wasting. Increased risk of malignant hyperpyrexia. Anesthetic implications: Assess respiratory status carefully. Sensitivity to thiopental and respiratory depressants. Try to avoid use of muscle relaxants (postoperative ventilation may be required). Do not give drugs that might trigger malignant hyperpyrexia. See also myotonia congenita.
Cerebrohepatorenal syndrome (Zellweger syndrome): Hepatomegaly, neonatal jaundice, polycystic kidneys, muscular hypotonia. CHD may be present. Anesthetic implications: SBE prophylaxis where indicated. Treat hypoprothrombinemia. Extreme care with muscle relaxants and other drugs excreted by kidneys. | |