Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.
The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacifications or clouding, and very slowly progressive neurodegeneration over many years. Elevation of serum gastrin is reported; findings from x-rays of bone and joints and lysosomal studies are normal. Reported here are two cases of mucolipidosis type IV in children not of Ashkenazi Jewish origin who presented during infancy with nonspecific global psychomotor delays, generalized hypotonia, and mild corneal abnormalities, but remained undiagnosed for years. A rare gene mutation in MCOLN1 was confirmed in one of the two patients, in addition to abnormal serum gastrin levels. More striking was the length of time that these children eluded detection of their final diagnosis.
Geer
Joseph S
JS
Greenwood Genetic Center, Greenwood, South Carolina 29465-1047, USA.
Skinner
Steve A
SA
Goldin
Ehud
E
Holden
Kenton R
KR
D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018899:CpG Islands / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007585:Jews; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics; D009081:Mucolipidoses / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000175:diagnosis*; D016133:Polymerase Chain Reaction / Q000379:methods; D050053:TRPM Cation Channels / Q000235:genetics; D050051:Transient Receptor Potential Channels; D044465:White People
D017931:DNA Primers; C416674:MCOLN1 protein, human; D008565:Membrane Proteins; D050053:TRPM Cation Channels; D050051:Transient Receptor Potential Channels