Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).

CNS involvement is rare in systemic amyloidoses due to transthyretin (TTR) mutation and manifests as a combination of dementia, seizures, and myelopathy. The authors report two French siblings who experienced recurrent subarachnoid hemorrhages as the main clinical feature. Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E).

[Pseudo-tumoral lesions of multiple sclerosis].

Three patients underwent a cerebral biopsy for clinical and radiological features suggesting a brain tumor. In all cases, the lesion contained large pleomorphic astrocytes that might have led to the erroneous diagnosis of grade II astrocytoma. However, the presence of foamy macrophages, demyelination and the relative preservation of axons led to the definitive diagnosis of multiple sclerosis which was confirmed by the subsequent clinical course.