Mucolipidosis type IV

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
19006653
 MALE Child
Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.
Tuysuz B, Goldin E, Metin B, Korkmaz B, Yalcinkaya C.
Brain Dev. 2009;31(9):702-5.
Here, we present a Turkish patient who, in addition to the typical neurological and visceral characteristics of mucolipidosis type IV, also demonstrates defects in the posterior limb of internal capsule by MRI, micrognathia and clinodactyly of the fifth fingers.