Lambert Syndrome

At a glance

It is a very rare inherited polymalformative syndrome characterized by the association between branchial arch dysplasia (malar hypoplasia, macrostomia, periauricular tags, meatal atresia, and clubfeet, inguinal hernia, and intrahepatic biliary atresia). Mental retardation is present.

Synonyms

Branchial Dysplasia Clubfoot Inguinal Hernia Biliary Atresia Syndrome; Branchial Dysplasia-Intellectual Disability-Inguinal Hernia Syndrome.

Incidence

The exact incidence remains unknown. Ten cases have been reported in the literature.

Genetic inheritance

It is presumed inherited as an autosomal recessive.

Pathophysiology

Abnormal development of the first and second branchial arches. Liver biopsy shows paucity of interlobular bile ducts.

Diagnosis

Familial occurrence of branchial dysplasia in association with cholestasis.

Clinical aspects

Patients with Lambert Syndrome present with facial dysmorphism related principally to abnormal development of the first branchial arch (malar hypoplasia, macrostomia, preauricular tags, and/or auricular atresia). Other malformations may include clubfeet, inguinal hernia, and hypospadias. Congenital heart defects (eg, ventricular septal defect) have been reported. Patients develop cholestatic jaundice related to a paucity of intrahepatic biliary ducts and moderate-to-severe mental retardation.

Precautions before anesthesia

Assess airway and cardiac and liver function. Check coagulation profile.

Anesthetic considerations

Because of facial dysmorphism, direct laryngoscopy and tracheal intubation might be difficult. It is recommended to have proper size laryngeal mask airway (LMA) available at the time of induction of anesthesia.

Pharmacological implications

Determined by liver function tests.

Other conditions to be considered

• ☞Alagille Syndrome: Characterized by neonatal jaundice ophthalmologic anomalies (eg, posterior embryotoxon and retinal pigmentary changes), pulmonary valvular stenosis, peripheral arterial stenosis, “butterfly” vertebrae on x-ray film, absent deep tendon reflexes, broad forehead, and pointed mandible and bulbous nose.

• Emanuel Syndrome (Derivative 22 Syndrome): Characterized by severe intellectual disability, severe hypotonia, microcephaly, failure to thrive, periauricular tags or pits, branchial arch defects including ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects (conotruncal defects), and urogenital abnormalities. It is present only in males. The onset of the disease is either at birth or during infancy. It is life-threatening in infancy or childhood. It is caused by extra chromosome 11 and chromosome 22. A thorough examination of the heart, kidney, and spinal cord is important when planning the anesthetic management. Adequate preparation for a difficult airway is essential and the use of different aids that you are most comfortable with to instrument the airway must be available. Laryngeal mask airway (LMA) in proper sizes for the patient must be available at all times. The frequency of this syndrome is established at 1:110,000 live births. This ...