Mucopolysaccharoidosis: neuroimaging and skeletal survey

Case contributed by Dr Mohammad A. ElBeialy


Mental retardation and delayed developemental milestones

Patient Data

Age: 9 years
Gender: Male
  • Prominent Virchow Robin perivascular spaces with cribriform appearances of the periventricular deep white matter. 
  • Moderate hydrocephalus with T2 signal void seen across the 4th ventricle, cereberal aqueduct, the 3rd and lateral ventricles. 
  • Cerebral atrophy with dilated cortical sulci.
  • Mega cisterna magna.
  • The scanned upper cervical spine shows mild bony canal stenosis at C1/C2 level with miuld hypoplasia of the odontoid peg and C1 posterior arch. Mild flattening of the upper cervical vertebrae (platyspondyly) is noted as well.      
  • Skull: Macrocephaly, J-shaped sella, frontal bossing with metopic beaking.  Platyspondyly of the cervical spine is noted as well.

  • Chest: Short, thick clavicles. Oar or paddle shape ribs with constriction of their posterior ends and relative enlargement or broadening of the anterior ends. Hypoplastic glenoids fossae is noted as well.

  • Pelvis and hips: An elongated pelvis, dysplastic and relatively large acetabulae,  flared ilia with inferior constriction (wine glass appearance), hypoplastic femoral epiphyses, short and wide femoral necks with coxa valga and wide symphsis pubis. 

  • Long bones:  Widening/thickening of diaphysis with expansion of the metaphyses. 

Ultrasound abdomen shows a small umbilical hernia. 

Case Discussion

Mucopolysaccharidoses is an inhertited metabolic disorder with multisystemic manifestations due to enzymatic deficency with intralysosomal accumulation of glycosaminoglycan (GAG). This case shows typical neuroradiological imaging findings of mucopolysaccharoidosis as well as some of the typical skeletal radiological manifestations.

Other skeletal manifestations include:  anterior beaking of the vertebral bodies (central- Morquio and anteroinferior- Hurler/hunter), posterior scalloping, narrowed spinal canal (most likely at the C1/C2 level due to hypoplasia of the odontoid peg and posterior arch of C1 with consequent compression of the cervicomdullary junction, cervical cord myelopathy or syringohydromyelia), atlantoaxial dislocation or subluxation, kyphosis, scoliosis, Gibbus deformity.  Madelung's deformity, small sized carpal bones with decreased thier numbers, bullet-shaped proximal metacrpals, short 4th metacapal bone.

Sensorineural or conductive hearing loss, aortic regurgitation and cardiomyopathy, umbilical hernia and hepatosplenomegaly are described as well. 


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Case information

rID: 38041
Published: 1st Jul 2015
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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