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Pediatric Radiological Case: Pelizaeus-Merzbacher syndrome

Back to Pediatric Community CASE SUMMARY A male first presented at an outside hospital with macrocephaly and nystagmus.

Next time I break my arm I am getting this. You send in a copy of your x-ray and they send back a print for your cast.

X-Ray Vision...almost.

Fun Tattoos for your cast. Want your X-Ray on your cast? Send us the digital file of your x-ray, and we’ll send you back your break in print, ready to be applied directly to your cast.

Twitter / RadiologySigns:   Two left eyeballs? No, it's actually a haemangioma but pretty cool nonetheless! Courtesy of @Radiopaedia

Radiology Signs on

“Two left eyeballs? No, it's actually a haemangioma but pretty cool nonetheless! Courtesy of

Short 4th and 5th metacarpals: Radiograph of the left hand shows the 4th and 5th metacarpals are abnormally shorter than the other metacarpals. Additionally, the third metacarpal is abnormally bowed.

Short and metacarpals: Radiograph of the left hand shows the and metacarpals are abnormally shorter than the other metacarpals. Additionally, the third metacarpal is abnormally bowed.

Hemimegalencephaly, the rarest of the cortical developmental disorders. Read more: http://radiopaedia.org/articles/emimegalencephaly

This case demonstrates features of total right hemimegalencephaly (the rarest type of hemimegalencephaly) with severe disorganization and migration arrest as described above.

Adrenoleukodystrophy | Radiology Reference Article | Radiopaedia.org

Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic peroxisomal disorder characterised by lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination of the periventricular deep white matt.

Craniopharyngioma - 3rd ventricle - Probably haven't seen this before right? Occasionally, craniopharyngiomas appear as intraventricular, homogeneous, soft-tissue masses without calcification (papillary sub type). The third ventricle is a particularly common location. Read more: http://radiopaedia.org/articles/craniopharyngioma

Craniopharyngioma - ventricle - Probably haven't seen this before right?

Colloid cyst with hydrocephalus|  Radiopaedia.org\  well defined hyperdense mass at the foramen of Monroe causing obstructive hydrocephalus.

Colloid cysts of the third ventricle are a benign epithelial lined cyst with characteristic imaging features. Although usually asymptomatic, they can rarely present with acute and profound hydrocephalus.

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