Mucolipidosis II: first report from Saudi Arabia.
OBJECTIVE
Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. It is caused by a deficiency in N-acetylglucosamine-1 phosphotransferase.


METHODS
This is a case series study conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2008-2012.


METHODS
We described three unrelated Saudi children who presented with neonatal hyperparathyroidism, microcephaly, craniosynostosis, coarse facial features, cardiac involvement, and skeletal deformities.


RESULTS
The MLII diagnosis was confirmed by assaying enzyme activities in fibroblasts, which showed a severe reduction in hydrolyzed substrates compared to controls, and by identifying a pathogenic homozygous GNPTAB gene mutation. One of the children died at 2 months of age due to severe pulmonary hypertension, and the other two children were still alive at 12 months and 18 months of age, respectively. Both surviving children had severe global developmental delay at 2 months of age.


CONCLUSIONS
Clinicians should investigate any child presenting with neonatal hyperparathyroidism, craniosynostosis, skeletal deformities, and coarse facial features for MLII.
Dr. Majid Alfadhel . Pediatrics, King Abdulaziz Medical City, Sheikh Jabir Al Ahmed al Sabah Street, Al Rimayah, PO Box 22490, 1510 Riyadh 11426, Saudi Arabia . dralfadhel@yahoo.com.
Majid
M
Alfadhel
Wafaa
W
AlShehhi
Hesham
H
Alshaalan
Mohammed
M
Al Balwi
Wafaa
W
Eyaid
Wafaa
W
Eyaida
D003497:Cyclic N-Oxides; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology / Q000503:physiopathology; D007223:Infant; D008297:Male; D008623:Mercaptoethanol / Q000031:analogs & derivatives; D009081:Mucolipidoses / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D012529:Saudi Arabia; D012720:Severity of Illness Index; D017855:Transferases (Other Substituted Phosphate Groups) / Q000235:genetics*
D003497:Cyclic N-Oxides; D008623:Mercaptoethanol; C040255:SL-mercaptoethanol; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase