Table 2 Magnetic resonance imaging (MRI) and computed tomography scan (CT) of the skull and brain, in six individuals with SNX10 related intermediate autosomal recessive osteopetrosis (IARO).
From: SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Patient number | 1 | 1 | 1 | 4 | 5 | 7 | 8 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
Gender (male/female) | Male | Male | Male | Female | Female | Male | Male | Male | Female |
Age at the time of imaging (year) | 29 | 34 | 33 | 35 | 14 | 2 | 11 | 11 | 8 |
MRI/CT-scan | MRI | MRI | CT | CT | MRI | MRI | MRI | CT | MRI |
Corpus callosum aplasia/hypoplasia | 0 | 0 | X | X | 0 | 0 | 0 | X | 0 |
Sclerotic bone | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 1 |
Thickened bone | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 1 |
Ventriculomegaly | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 0 |
Remodelled inner table | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 |
Tonsillar herniation | 1 | 1 | X | 0 | 1 | 0 | 1 | X | 1 |
Optic nerve sheath dilatation | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 0 |
Proptosis | 1 | 1 | 1 | 1 | 0 | 0 | 1 | X | 1 |
Brain atrophy | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Optic nerve atrophy | 0 | 0 | 0 | X | X | 1 | 1 | X | 1 |
Optic canal stenosis | 0 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 |
Ear fluid | 1 | 1 | X | X | 0 | 1 | 0 | X | 0 |
Dural venous sinus stenosis | X | X | X | 0 | 1 | X | 1 | X | 1 |
Foramen magnum stenosis | 0 | 0 | X | X | 1 | 0 | 1 | X | 1 |
Posteriorly angulated dens with stenosis | X | X | X | X | 1 | 0 | 1 | X | 1 |
Cervical spinal stenosis in included upper part | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Subdural hematoma or intra-cerebral bleeding | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Prominent collateral veins between sinus transversus and extra-cranial veins | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
Lemon shape of the scull (similar to what is seen in Chari II malformation), syrinx of the cervical cord, large occipital horns | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
Calcification in basal ganglia and subcortical frontal lobes | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
