PMC5656753_01
Neuroimaging and Genetics of Referred Patient. (A-F) Patient brain magnetic resonance imaging panel displaying T2 weighted (A,D) and T1 weighted scans of consecutive axial slices at mesencephalic and basal ganglia level. Beta-propeller protein-associated neurodegeneration (BPAN) typical signal changes were found as symmetric cerebral peduncle including substantia nigra T2 hypointensity (A,F;*) combined with T1 hyperintensity (B) with a located circumscribed hypointense band in there (B and enlarged section C;<) as described to be a nearly pathognomonic magnetic resonance imaging feature of BPAN. In contrast, symmetric T2 hypointensity of the globus pallidus (D,F; ) was not accompanied by T1 signal changes (E). Global cerebral atrophy and caudate nucleus atrophy were observed. (G) Quantitative polymerase chain reaction of the WDR45 coding regions of the index patient and her parents showing a reduction of the gene dosage to approximately 50% of controls suggestive of a heterozygous deletion of the entire WDR45 gene.
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Neuroimaging (Figure 1) revealed hypointensities within the basal ganglia suggestive of NBIA and the typical T1 hyperintense signals in the midbrain. Owing to the distinct classical clinical presentation and neuroimaging findings (Figure 1), we further analyzed the WDR45 gene by quantitative polymerase chain reaction (qPCR). By doing so, we detected a heterozygous deletion of the entire WDR45 gene (Figure 1B).