Distinct pattern of neostriatal calcifications in dyskeratosis congenita: A case report and literature review.

We report a 20-year-old female patient with autosomal dominant DKC established by TINF2 gene mutation. Neostriatal calcifications with a distinctive pattern observed on neuroimaging were confirmed by postmortem microscopic examination. In contrast to the usual pattern of basal ganglia calcification, which starts in the globus pallidus, in this case the deposits were located in the caudate and putamen, sparing the globus pallidus. Iron deposits were also detected with similar distribution. Interestingly, staining for markers of brain aging (τ, amyloid, and p62) yielded negative results. These findings could not be attributed to any other condition (i.e., hypoparathyroidism, infections, etc.). Thus, we conclude that basal ganglia calcification can be a rare feature of DKC.
. PMID: 30106361 [PubMed - as supplied by publisher]
Source: Clinical Neuropathology - Category: Pathology Authors: Tags: Clin Neuropathol Source Type: research