Mucolipidosis type IV: clinical manifestations and natural history.
The clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi-Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.
Chitayat
D
D
Department of Pediatrics, Montreal Childrens Hospital, Quebec, Canada.
Meunier
C M
CM
Hodgkinson
K A
KA
Silver
K
K
Flanders
M
M
Anderson
I J
IJ
Little
J M
JM
Whiteman
D A
DA
Carpenter
S
S
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D007585:Jews / Q000235:genetics*; D008297:Male; D009081:Mucolipidoses / Q000235:genetics* / Q000473:pathology; D011596:Psychomotor Disorders / Q000235:genetics* / Q000473:pathology