Early adolescent girls, development and movement delay, do you know this rare genetic disease?

*Only for medical professionals to read for reference.
Doctors understand this disease, so patients have hope.
Early adolescent girls have developmental and motor retardation
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Look at the image below, what do you consider the patient’s diagnosis? ---Answer dividing line---Are you sure you want to see the answer? ▌ The image analysis of axial MRI T2 (a) and FLAIR (b) images showed that the enlarged extravascular space in the white matter around the ventricles of the bilateral ventricles was frequently enlarged, and there was a high signal around the FLAIR sequence
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It also showed other abnormalities of FLAIR signal under the cortex, involving both cerebral hemispheres
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▌ Imaging diagnosis of mucopolysaccharidosis (MPS)
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▌ Clinical manifestations A.
MPS is a genetic disease, which is caused by abnormal accumulation of mucopolysaccharide (GAG) caused by lysosomal enzyme defects
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B.
The patient appears to be intelligent and slow in movement
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C.
Imaging shows a giant skull and an enlarged VR gap, which is caused by abnormal accumulation of mucopolysaccharides
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The enlarged VR gap is similar to the cerebrospinal fluid signal, and its peripheral white matter shows high signal fusion of T2/FLAIR, similar to gliosis or demyelination/myelination disorder
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D.
Explanation of terms-Vecchio Robin gap (VR gap): refers to the gap formed when the perforating artery extends from the subarachnoid space and penetrates into the brain parenchyma, and the pia mater covers it
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VR's typical predisposing parts include: deep gray and white matter of the brain (lower 1/3 of the basal ganglia, anterior penetrating matter); it runs along the medullary veins, mostly around the ventricle and midbrain
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VR gap diameter is usually about 2-5mm
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 ▌ Image identification A.
The VR gap is consistent with the cerebrospinal fluid signal, which tends to occur in a specific location
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B.
Lacunar infarction is similar to infection (cryptococcus) and VR, but there are abnormal signals around it
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C.
MPS can cause mental retardation and motor retardation, and the enlarged PV gap is adjacent to the abnormal signal fusion zone
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References: [1]Kwee RM, Kwee T C.
Virchow-Robin spaces at MR imaging[J].
Radiographics, 2007, 27(4): 1071-1086.
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