Syndromes >

J

Juvenile Sulfatidosis Syndrome

Topics Discussed:

multiple sulfatase deficiency disease.

Sections:

At a Glance, Synonyms, Genetic Inheritance, Pathophysiology, Diagnosis, Clinical Aspects, Precautions before Anesthesia, Anesthetic Considerations, Pharmacological Implications, Other Conditions to Be Considered, References

Excerpt:

"Very rare inborn error of metabolism combining the characteristics of metachromatic leukodystrophy and mucopolysaccharidosis. Lysosomal storage disease resulting from a lack of conversion (most likely in the endoplasmic reticulum) of cysteine into formylglycine. Muscle weakness with spasticity, poor swallowing, recurrent pulmonary aspiration, and quadriplegia. Blindness and seizures (hydrocephalus) develop, eventually leading to death by the second decade of life. Aortic insufficiency and cervical cord compression have been reported...."

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