PT  - JOURNAL ARTICLE
AU  - R. Manara
AU  - E. Priante
AU  - M. Grimaldi
AU  - L. Santoro
AU  - G. Polonara
AU  - R. Parini
AU  - M. Scarpa
TI  - Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome
AID  - 10.3174/ajnr.A2867
DP  - 2012 May 01
TA  - American Journal of Neuroradiology
PG  - 873--877
VI  - 33
IP  - 5
4099  - http://www.ajnr.org/content/33/5/873.short
4100  - http://www.ajnr.org/content/33/5/873.full
SO  - Am. J. Neuroradiol.2012 May 01; 33
AB  - BACKGROUND AND PURPOSE: Hunter syndrome (MPS type II) is a rare X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency, characterized by frequent and variable brain and skull involvement. Our objective was determine the frequency of closed cephaloceles in a large cohort of subjects affected with Hunter syndrome and to investigate possible correlations with clinical and neuroradiologic findings. MATERIALS AND METHODS: Brain MR imaging of 33 patients (32 males and 1 female, age range 2.5–30.8 years, mean age 10.4 years) affected with Hunter syndrome were retrospectively evaluated. Eleven (age range 3.6–30.8 years; mean age 15.1) presented with an “attenuated” phenotype, while 22 (age range 2.5–19.1 years; mean age 8.2) had a “severe” phenotype. RESULTS: A closed cephalocele was detected in 9/33 patients (27%) at the level of anterior and middle fossa in 6 and 3 cases, respectively; 6/9 subjects were affected with the attenuated phenotype and 1/9 suffered from epilepsy. Closed cephaloceles did not show a significant association with other brain and spine MR imaging features of Hunter disease, such as enlargement of perivascular spaces, cisterna magna, pituitary sella, ventricles and subarachnoid spaces, craniosynostosis, dens hypoplasia, white matter abnormalities, spinal stenosis due to periodontoid cap, platyspondylia, or intervertebral disk anomalies. CONCLUSIONS: Closed cephaloceles are frequent in Hunter syndrome and should be considered a neuroradiologic feature of this disease. ERTenzyme replacement therapyGAGSglycosaminoglycansMPSMucopolysaccharidosisPVSperivascular space