Leptomeningeal familial amyloidosis:

Excerpt

Sirs: We report on a 31-year old woman with a known history of familial amyloidosis with the transthyretin (TTR) variant Leu12Pro. The pedigree can be traced back to the year 1780. For three years the patient had suffered from a primary partial secondary generalising epilepsy with a constant semiology starting with spitting automatisms, indicating a focus of the non dominant hemisphere [15]. Interestingly, the mother of our patient also suffered from epilepsy with the same semiology and developed severe bilateral visual impairment in her later life. The patient was admitted to our hospital because she became increasingly drowsy and had developed a delusional state at the same time as pneumonia. The patient had received a liver transplant nine months previously and was on a stable immunosuppressive medication (Cyclosporine 100 mg/d, mycophenolate mofetil 1000 mg/d). Clinically, the patient was drowsy and not well orientated regarding time, place and person. All other findings were completely normal and there were no clinical and electrophysiological signs of peripheral neuropathy. Two days later under antibiotic treatment for pneumonia with cefuroxim the patient showed normal vigilance, was fully orientated but showed slight attention deficits leading to a mini mental score (MMSE) of 27 points. The electroencephalogram showed a diffuse (6 Hz) and focal bitemporal slowing without epileptiform discharges. Cerebrospinal fluid examination revealed a normal opening pressure but xanthochromia with an increased protein level of 229 mg/dl and normal cell count (2/mm³), cell cytology, glucose CSF/serum-ratio, and lactate. Tests for oligoclonal bands in the CSF were negative. Magnetic resonance imaging (MRI) showed in the T1 images after contrast administration a diffuse leptomeningeal enhancement around the brainstem, cerebellum and lower parts of the cerebral sulci. No focal intracerebral abnormalities were detected in T2* images.

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