Syn .: Mucolipidosis type I, Springer syndrome.
Def .: The form of glycoprotein neuraminidase deficiency with the mildest clinical course and autosomal recessive inheritance.
Etiol .: Deficiency? α-neuraminidases with oligosaccharide storage.
Clinical: Multifocal ossification disorders, myoclonic spasms and mental development retardation are observed in patients. There are cornea of the torso and the skin of the face is rough.
DL: Showing a deficiency? α-neuraminidase.
DR: Other lysosomal storage disorders.
Treat: Symptomatic.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House