Cerebral demyelination and optic neuritis are often seen in children with acute disseminated encephalomyelitis following various infections and immunisations. An eight month old girl presented with a left axillary lymph node swelling and an erythematous lace-like rash over her cheeks and trunk. She then developed acute encephalopathy, bilateral nystagmus, right hemiparesis and left facial nerve palsy. Her electroencephalogram showed an encephalopathic process and visual evoked response study were grossly abnormal. Her MRI brain showed hyperintensities in the midbrain, pons and bilateral cerebellar peduncles. She was treated as postinfectious cerebral demyelination with intravenous antibiotics, methylprednisolone and immunoglobulin. Left axillary lymph node excision biopsy and GeneXpert test detected Mycobacterium tuberculosis complex that prompted initiation of antituberculous therapy. Her chest X-ray and cerebrospinal fluid examinations for tuberculosis were normal. She showed significant recovery after 2 weeks. This case illustrates a rare presentation of cerebral demyelination and bilateral optic neuritis following suppurative BCG lymphadenitis.
BAG3 myofibrillar myopathy (MFM) is a rare, childhood onset disease caused by the recurrent dominant mutation P209L. It is associated with progressive muscle weakness, cardiomyopathy, and respiratory failure. While usually associated with Z-disk, we show a potential role for nuclear damage in the pathophysiology of this disease. BAG3 has recently been shown to play a role in the maintenance of the nuclear envelope. Our mouse model of BAG3 MFM, which is a compound heterozygote carrying a homologous P215L mutation and a knock-out allele (KI/KO) shows nuclear envelope deformities on EM, as well as aggregates of Lamin A/C and BAG3 on immunofluorescent labelings. Additionally, some animals show an increase in the mechanosensitive protein YAP, suggesting increased nuclear tension. Preliminary data from primary fibroblast cell lines generated from the mice slhows an increase in micronuclei in both heterozygous knock-out and homozygous mP215L cell lines, with a particularly high occurrence in KI/KO cell lines as compared to wild type control. This suggests that impaired maintenance of the envelope may play a role in this disease, and lead to downstream effects which may contribute to the severity of this myopathy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.