Maroteaux-Lamy Syndrome

The three variants of Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) are severe, intermediate, and mild. The severe form of this condition is similar to the severe form of Hurler syndrome, except for the preservation of intelligence in these patients. Other clinical features include macrocephaly, coarse facial features, and short stature. Corneal opacities are often present. Stubby fingers, joint restrictions, clawhands, lumbar lordosis, and hip pain occur after age 3 or 4 years.

Mucopolysaccharidosis Type VI; Arylsulfatase B Deficiency; N-Acetylgalactosamine-4-Sulfatase Deficiency; Polydystrophic Dwarfism; Pyknodysostosis of Maroteaux-Lamy.

Unknown. Seems to affect males and females equally. Patients affected with the severe form of this disease usually die by early adulthood. One survey in British Columbia, Canada, reported a frequency estimated at 1:216,000 live births.

Autosomal recessive trait.

Deficiency of N-acetylglucosamine-4-sulfate sulfatase B leads to excessive accumulation of dermatan sulfate in the urine. Continuous storage of dermatan sulfate in the skeleton, heart valves, spleen, liver, and cornea. The enzyme deficiency results in an inability to metabolize mucopolysaccharides.

Phenotype. Dermatan sulfituria. Specific enzyme assay.

Resembles Hurler syndrome but is not usually associated with mental retardation. Patients have coarse facial features, short neck and trunk, skeletal abnormalities (hypoplasia of hip acetabula, flared iliac wings, hypoplasia of L1 to L2 vertebral bodies, and lumbar kyphosis), hernias, and corneal clouding. Sleep apnea syndrome is common. Mitral or aortic insufficiency may occur; heart failure is the most common cause of death (second or third decade). Hepatosplenomegaly.

Assess cardiorespiratory status carefully and obtain chest radiography, echocardiography. Assess airway and cervical spine.

As in other forms of mucopolysaccharidosis, the main considerations are related to difficulty with airway maintenance and tracheal intubation. If difficulties are predicted, spontaneous ventilation should be preserved until the airway is secured and lung ventilation is confirmed. A laryngeal mask airway suitable for the patient's size should be readily available in case of failure to ventilate or intubate. Fiberoptic airway equipment can also be useful. Appropriate equipment should be available. See Mucopolysaccharidoses (MPS) for further discussion.

Avoid sedation in the postoperative period.

See other forms of mucopolysaccharidoses.