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

Dyskeratosis congenita (DKC) is a rare, inherited disorder classically known by the triad of nail dystrophy, mucosal leukoplakia, and lacy reticulated skin hyperpigmentation. Bone marrow failure is a prominent feature and accounts for most deaths in these patients. Genetic mutations resulting in shortened telomeres have been shown to cause DKC, which is the basis for categorizing it as a "premature aging syndrome". Different modes of inheritance have been identified with X-linked recessive as the most common. There have been reports of intracranial calcifications on neuroradiology in a few cases of DKC, but no histopathologic illustration has been provided. 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.
.

Venous outflow stenting for symptomatic developmental venous anomaly.

Developmental venous anomaly (DVA) is one of the commonest vascular malformations in the brain but rarely symptomatic. Various pathomechanisms such as mechanical compression, increased in-flow into DVA or outflow obstruction have been described as causative factors in symptomatic DVAs. We report a unique case of a pontomedullary DVA with venous outflow obstruction causing progressive neurological worsening in a young adult despite anticoagulation, who was treated with a novel approach of venous outlet stenting of the collector vein with favorable outcome. In carefully selected cases, this endovascular treatment can be an effective and safe alternative when other measures fail.