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Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder
- Source :
-
Pediatric Neurology . Mar2010, Vol. 42 Issue 3, p223-226. 4p. - Publication Year :
- 2010
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *PEDIATRIC nephrology
*NEURODEGENERATION
*LYSOSOMAL storage diseases
*DEVELOPMENTAL neurobiology
*PSYCHOMOTOR disorders
*GENETIC mutation
*GASTRIN
*BRAIN
*CARRIER proteins
*DISEASE susceptibility
*DNA
*DNA probes
*GENES
*JEWS
*MAGNETIC resonance imaging
*MEMBRANE proteins
*INBORN errors of metabolism
*POLYMERASE chain reaction
*RESEARCH funding
*WHITE people
*GENETIC testing
*HAPLOTYPES
*SEQUENCE analysis
*DIAGNOSIS
Subjects
Details
- Language :
- English
- ISSN :
- 08878994
- Volume :
- 42
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Pediatric Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 48222759
- Full Text :
- https://doi.org/10.1016/j.pediatrneurol.2009.10.002