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
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
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
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
See other forms of
Walker RWM, Darowski M, Morris P, et al: Anesthesia and
mucopolysaccharidoses. A review of airway problems in children. Anesthesia