Mucopolysaccharidosis with questionable
glucosamine-6-sulfate sulfatase deficiency. Scientific fraud in Diferrante's
laboratory is suspected, and this syndrome has been retained here only for
Glucose-6-Sulfate Sulfatase Deficiency;
Mucopolysaccharidosis Type VIII.
Only one patient has been described.
Mucopolysaccharidoses represent a group of
hereditary disorders involving lysosomal enzymatic defects affecting the
degradation of mucopolysaccharides present in connective tissue. Nearly
every organ of the body shows an accumulation of incompletely metabolized
The patient excreted keratan and heparan sulfate in the
urine. Lymphocytes stained with toluidine blue show a peculiar ring-shaped
metachromasia underlying the cell membrane.
The syndrome combines clinical and biochemical
features of the Morquio and Sanfilippo syndromes. The affected patient had a
short stature with mild dysostosis multiplex and hypoplasia of the odontoid.
He was mentally retarded and presented with hepatomegaly and hirsutism. He
had no ocular involvement.
Obtain radiographs of the cervical
spine to document atlantoaxial instability. Pulmonary function testing
should be obtained in view of a probable restrictive pulmonary syndrome in
relation with the short stature. Baseline liver function should be obtained.
Difficult tracheal intubation is the
rule and fiberoptic intubation should be considered. In spite of the
atlantoaxial instability, mucopolysaccharides may accumulate in the tongue
and nasopharyngeal tissues, making visualization of the glottic opening
difficult during direct laryngoscopy. Hence, patients may also present with
obstructive apnea and increased sensitivity to the ventilatory depressant
effect of narcotics, so regional anesthesia for postoperative pain control
is recommended, as well as observation in the intensive care unit for 24 to
48 hours. Finally, the heart may be affected by mucopolysaccharide
accumulation in different ways, so the dose of anesthetics should be
If liver function is decreased, then
certain medications, such as muscle relaxants, should be given in a reduced
Stoelting RK, Dierdorf SF: Metabolic and nutritional disorders, in
Stoelting RK (ed): Anesthesia and Coexisting Disease. 3d ed. New-York,
Churchill Livingstone, 1993, p 383.