Showing papers by "João Massano published in 2021"

Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3-Related Dystonia

Abstract: Background Mutations in the anoctamin 3 (ANO3) gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid-life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24. Cases The index case presented with myoclonic dystonia at age 10. His family history was remarkable for cervical dystonia with myoclonus in his grandfather, cervical and upper limb dystonia along with dopa-responsive parkinsonism in his father and lower-limb dystonia in his teenage sister. Magnetic resonance imaging and blood work-ups of all the affected family members were normal. The genetic panel for inherited forms of dystonia disclosed a point mutation c.1787C > A (p.Ser596Tyr) segregated in all affected family members. Conclusions ANO3 mutations usually present with craniocervical dystonia and rarely generalized or leg dystonia. This family exemplifies the heterogeneous presentation of this disorder as well as a wide phenotypic variability within the same family.

From Kidney to Brain: An Uncommon Severe Relapse of Myeloperoxidase Anti-Neutrophil Cytoplasmic Antibody (MPO-ANCA) Vasculitis.

Abstract: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of rare autoimmune diseases that affect medium and small blood vessels, with uncommon, variable central nervous system (CNS) involvement. It poses diagnosis challenges due to the limited accuracy of conventional imaging and vast differential diagnosis. We describe the case of a 76-year-old man with a previously diagnosed myeloperoxidase (MPO)-positive AAV with exclusive renal involvement. The patient presented to our emergency department (ED) with sudden-onset weakness of the right side of the body, difficulty speaking, fever, and a history of progressive cognitive impairment in the previous three months (loss of memory, time and space disorientation, acalculia). Brain imaging showed multiple acute and subacute ischemic lesions, suggesting CNS vasculitic involvement. The patient was treated with methylprednisolone pulses, followed by rituximab, with motor and cognitive improvement. Timely diagnosis and adequate treatment of AAV as a cause for new-onset neurological symptoms are crucial to improve outcomes. Otherwise, a higher risk of relapse remains, and extensive neurological deficits may become permanent. Evidence regarding the best treatment options in these patients is scarce and case reports provide further data on this topic.