Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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July 28, 2016
Leptomeningeal Familial Amyloidosis
- Background:
- This rare autosomal dominant disease is characterized by systemic deposition of amyloidogenic variants of the transthyretin (TTR) protein.
- Clinical Presentation:
- Progressive neurologic symptoms due to deposition in the nervous system include sensory/motor polyneuropathy and autonomic neuropathy such as neurogenic bladder, as demonstrated in this case.
- The disease can also cause restrictive cardiomyopathy due to cardiac deposition.
- Key Diagnostic Features:
- Diffuse linear leptomeningeal enhancement predominantly involving the posterior fossa and spine
- Cardiac involvement includes left ventricular hypertrophy, delayed subendocardial enhancement, and restrictive physiology.
- Differential Diagnoses:
- Sarcoidosis: Linear leptomeningeal enhancement as well as peripheral intramedullary spinal cord mass-like enhancement; sarcoid cardiac involvement more commonly shows mid-myocardial or subepicardial delayed gadolinium enhancement.
- Leptomeningeal Carcinomatosis: May show discrete enhancing nodules or masses along the spinal cord surface/nerve roots as well as at the bottom of the thecal sac
- Infectious Meningitis: Smooth or nodular leptomeningeal enhancement with possible T1WI hyperintense CSF and diffuse CSF enhancement
- Chronic Intracranial Hypotension: Diffuse smooth predominantly supratentorial dural thickening/enhancement with a slumping midbrain, distended venous sinuses, and possible subdural hygromas/hematomas
- Treatment:
- Invariably fatal without a liver transplant, which replaces the liver expressing wild type and mutant TTR with a liver only expressing wild type TTR
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