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previously visited 18 Q- SYNDROME Random Case
Authored By: Blaise Jones, Radiologist, Cincinnati Children's Hospital Medical Center, Ohio, USA.
Patient: male
History: 4 y.o. male with developmental delay
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Fig. 1: Axial T2WI in this 4 y.o. shows minimal myelination in internal capsules

Fig. 2: More superior images show lack of myelination in peripheral white matter

Fig. 3: The lack of myelination on T2WI would be appropriate for a child 10 months or younger.

Fig. 4: For comparison, this is the normal pattern of myelination seen in a 3.5 y.o. Note that myelinated white matter is hypointense in signal on T2WI

Fig. 5: Sagittal T1WI shows normal pattern of myelination in the corpus callosum.

Fig. 6: Off-midline sagittal T1WI shows good myelination as bright white matter signal in the peripheral braches of white matter. Children typically achive this degree of myelination by about 8-10 months.

Fig. 7: Follow up MR exam performed when this child was 9 years old shows only minor progression of myelination
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Findings: The Sagittal T1-weighted images are essentially normal, but the extent of myelination demonstrated on the T2-weighted images is markedly delayed. There is minimal evidence of myelin on T2WI in the internal capsule, and none in the more peripheral white matter.
Diagnosis: 18 q - syndrome
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Additional Details:

Case Number: 57879Last Updated: 03-19-2003
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Anatomy: Cranium and Contents   Pathology: Congenital
Modality: MRAccess Level: Readable by all users
Keywords: hypomyelination, chromosomal abnormalityContained in: CNELLAIAPPAN, ottorapalino, Q – Syndrome
Case has been viewed 1708 times.

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