Sialidosis (Mucolipidosis I) Follow-up

Updated: Aug 09, 2017
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Follow-up

Further Outpatient Care

Serial urinary protein evaluation and periodic renal function assessment are indicated in patients with sialidosis.

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Complications

As with any progressive neurologic disease, patients with sialidosis are at risk for recurrent infections and aspiration pneumonia. Renal involvement has been reported in a few cases of sialidosis and has been thought to be a result of generalized visceral storage.

Although no reports have been described in sialidosis, atlantoaxial instability may develop because of abnormally shaped cervical vertebrae. If this occurs, patients should be observed and eventually surgically stabilized to avoid the risk of spinal cord injury.

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Prognosis

In patients with type II infantile onset, psychomotor retardation and neurologic deterioration is progressive, and death from cardiorespiratory complications usually occurs by the second decade of life.

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Patient Education

Care must be taken to educate families about the genetic basis of this disorder, including recurrence risks, identification of carriers, and the availability of prenatal diagnosis for future at-risk pregnancies.

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