RESUMO
We present a 62-year-old woman who developed recurrent urinary tract infections in her early fifties and, after an evaluation by an infectious disease physician, was referred for a neurological consultation. Her history and neurological examination were consistent with spastic paraparesis and there was significant family history of a variety of neurological diagnoses suggesting a genetic disorder. Whole exome genetic testing revealed a novel change, a c.508 C > T variant in the SPAST gene. Our genetic and protein modeling analysis suggest that this is a disease-producing mutation confirming the diagnosis of hereditary spastic paraplegia type 4 (SPG4). This patient expands the spectrum of mutations that can cause this disorder and demonstrate the importance of recognizing the role of neurological disorders in causing neurogenic bladder and recurrent urinary tract infections.
RESUMO
Lance-Adams syndrome (LAS) is an uncommon neurological disorder characterized by the development of chronic post-hypoxic myoclonus. There are relatively few cases described following successful cardiopulmonary resuscitation. We report a patient who developed LAS 3 months after successful resuscitation. Cerebral imaging studies indicate that brain pathology in LAS patients is not uniform, suggesting that the pathophysiology of myoclonus may vary from patient to patient. Our patient adds to this etiological heterogeneity by demonstrating the unusual feature of cerebellar pathology by both cerebral magnetic resonance imaging and single-photon emission computed tomography scans. There is also heterogeneity of these patients in their response to therapy. Unlike some patients described in the literature, our patient has not responded to drug treatment. Studies of these rare patients with LAS are important as they provide insight into the pathophysiology of this condition which, it is hopefully, will facilitate the development of more effective therapy.
