Mucolipidosis IV.
Five new cases of Mucolipidosis IV are related and the seven cases in the literature reviewed. Neurological signs of the disorder and the value of skin and conjuncitival biopsies for its diagnosis are emphasized. Arguments in favour of a recessive autosomic inheritance are brought forth. The disease does not affect exclusively Jewish people. In two cases absence of oligosacchariduria was demonstrated.
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology; D003318:Corneal Opacity / Q000175:diagnosis; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis; D009896:Optic Atrophy / Q000175:diagnosis; D012867:Skin / Q000473:pathology