Fucosidosis type 1
Overview
Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
Symptoms
Psychomotor retardation Delayed milestone achievements Weakness Reduced muscle tone Spastic quadriplegia
Causes
Hydrocephalus Fluid collections Subperiosteal Subgaleal Subdural Benign enlargement of the extraaxialspaces of infancy (benign subdural effusions of infancy) Subdural hematoma Increased skull thickness Chronicsevere anemia Cranioskeletal dysplasias Megalencephaly Anatomic Benignfamilial macrocephaly Neurocutaneous disorders Megalencephaly with a neurologic disorder Other Metabolic
Prognosis
Progressive neurologic deterioration begins after the 1st year of life, accompanied by spasticity, tremors, and mild skeletal changes. Lungs, heart, liver, pancreas, kidneys, cornea, skin, mucous-secreting glands, lymphocytes, peripheral nerves, and spleen are affected. Somatic features are similar to those in MPS. Type I (the infantile form) makes up 60% of all fucosidosis cases. It has an early and rapid course, with death occurring around 5 years of age.