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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Figure 2

MRI of the brain. MRI was performed on Patient 1 at 12 years of age. T1W1 sagittal image demonstrates prominent cerebellar atrophy involving superior and middle cerebellar folia. Axial images (not shown) revealed normal subcortical and cerebellar white matter. MR spectroscopy was normal (not shown). Repeat MRI imaging at 16 years old was unchanged (not shown). MRI of the brain (Patient 2) showed a similar pattern but milder cerebellar atrophy (not shown).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172