11/75. Amyloidoma in the gasserian ganglion: case report. BACKGROUND: Amyloidoma in the central nervous system is extremely rare. We describe a rare case of amyloidoma in the gasserian ganglion manifesting as trigeminal neuropathy. methods: A 41-year-old woman was admitted to our hospital with progressive numbness and hypalgesia in the distribution of the second and third divisions of the left trigeminal nerve. There was no evidence of chronic inflammatory disorder or immunological abnormalities. Magnetic resonance images showed a mass in the left Meckel's cave that was brightly enhanced with gadolinium. RESULTS: A reddish, firm mass was successfully removed via a left temporal craniotomy. Histologically, the tumor was composed of larger acellular deposits of eosinophilic material. The acellular deposits were positive for potassium permanganate-resistant congo red staining, showing apple-green birefringence under polarized light and expression of immunoglobulin lambda light chain-derived proteins (A lambda) immunohistochemically. CONCLUSION: The present case revealed an A lambda amyloidoma in the left gasserian ganglion. Although the incidence is rare, amyloidoma should be suspected in patients who complain of progressive trigeminal neuropathies and show an enhanced lesion in the gasserian ganglion on MR images. ( info) |
12/75. Sequential (domino) transplantation of the liver in a transthyretin-50 familial amyloid polyneuropathy. Special reference to cardiological diagnosis and complications. BACKGROUND: General shortage of cadaveric organs has led to a search for alternative methods to expand the donor pool. Sequential (domino) transplantation is yet another attempt to compensate for the declining consent to organ donation. patients AND methods: To qualify for a domino liver transplantation, the following preconditions must be fulfilled: (1) extrahepatic disease must exist, (2) liver must be fully functional, and (3) the genetic defect in the host should recur within a sufficient latency period. Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease which involves a genetic defect for transthyretin (TTR), which is predominantly produced in the liver. RESULTS: In this report, we describe a rare case of a FAP TTR-50 variant undergoing domino liver transplantation. Since myocardial symptoms precede peripheral polyneuropathy, special emphasis should be placed on arrhythmias and the restrictive cardiomyopathy necessitating a veno-venous bypass or a cardiac pacemaker in order to improve cardiac contractility. The type of anastomosis of the suprahepatic inferior vena cava and possible alternatives are discussed. CONCLUSION: Despite ethical problems, the advantages of the domino procedure are obvious: (1) expansion of the donor pool, (2) ability to use living donors, and (3) presence of very short ischemic time and thus excellent liver function. Due to the kinetics of TTR production and deposition, donors and recipients of FAP livers should be followed up using an extensive neurological and cardiological protocol. ( info) |
| The first case of liver transplantation from a brain-dead donor in japan is described. The recipient was a 43-year-old man with familial amyloid polyneuropathy who manifested various neuropathic symptoms and autonomic dysfunction at the time of transplantation. The graft had three arteries, for which a single trunk was created at the back table. A side-to-side cavacaval anastomosis was performed as an outflow reconstruction. To avoid portal congestion, a temporary shunt between the right posterior branch of the portal vein and the vena cava was constructed, instead of a venovenous bypass. The graft preservation time was 7.2 h and the operation time was 12.2 h. Although sufficient blood flow in the hepatic artery, portal vein, and hepatic vein was confirmed intra- and postoperatively, using Doppler ultrasound, transient graft dysfunction was observed immediately after surgery, but there was spontaneous improvement. The patient was discharged 100 days after transplantation. ( info) |
14/75. A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). Two patients with amyloidosis caused by transthyretin (TTR) were investigated by immunohistopathologic, mass spectrometric, and molecular genetic methods. After confirming the immunoreactivity of TTR in the amyloid deposits using anti-TTR polyclonal antibody, a new method: centrifugal concentration and electrospray ionization mass spectrometry (ESI-MS) was employed to detect the variant TTR in the serum. Only 50 microl of the serum and 30 microl of the anti-TTR antibody were needed for the analysis. After incubation with the antibody, the samples were passed through a 1000 kDa cut off centrifugal concentrator to retain the antibody, thereafter, the filtrate was analyzed by ESI-MS. Several forms of normal and variant TTR were detected in the serum samples: unconjugated TTR, cysteine and cysteine-glycine conjugated TTR. In the patients, a variant form of TTR was detected with a 26.0 Da higher molecular weight than that of normal TTR. Single-strand conformation polymorphism (SSCP) and direct sequence analysis confirmed the presence of a one-base substitution situated at the codon 50 from AGT (Ser) to ATT (Ile) in both patients, that corresponded to the increased molecular weight of 26.0. The present diagnostic procedure demonstrates the usefulness of both ESI-MS and SSCP to screen for TTR related amyloidosis rapidly. Moreover, the dna samples obtained from the band showing abnormal electrophoretic migration pattern in SSCP, facilitate the direct sequence analysis to detect the unknown mutation, and the observed shift in molecular weight of the variant TTR in ESI-MS confirms the base substitution. ( info) |
15/75. Effect of sildenafil citrate (Viagra) on erectile dysfunction in a patient with familial amyloidotic polyneuropathy ATTR Val30Met. A 34-year-old male patient with familial amyloidotic polyneuropathy (FAP) amyloidogenic transthyretin (ATTR) Valine30Methionine (Val30Met), who underwent a liver transplantation in sweden in 1994, was treated with sildenafil citrate (Viagra) to ameliorate his erectile dysfunction (ED). Some clinical symptoms and the examination data for autonomic functions were improved after liver transplantation, but ED was never improved after the operation. Five years after liver transplantation, he requested a sildenafil citrate therapy to enhance his erectile potential. One and a half hours after the administration of 25 mg of sildenafil citrate, the skin surface temperature around the pelvic area increased and the penis became erect, though the postdose hemodynamic parameters did not significantly change from the respective baseline or predose values. He was able to have sexual intercourse, though ejaculation did not occur. This case report appears to suggest that sildenafil citrate is an effective drug to treat ED in patients with an organic impairment of the autonomic nervous system without altering systemic circulation. ( info) |
16/75. A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct dna sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA). ( info) |
17/75. Japanese monozygotic twins with familial amyloidotic polyneuropathy (FAP) (ATTR Val30Met). Twenty-nine-year-old twin brothers having the amyloidogenic transthyretin (ATTR) Val30Met gene developed the clinical symptoms of familial amyloidotic polyneuropathy (FAP) in 1995. The twins had the same educational background and lived in the same district. FAP manifestations were similar in both cases, although electromyographic examinations revealed sensorimotor polyneuropathy in No. 1 and sensory polyneuropathy in No. 2. dna analysis revealed that they were monozygotic twins. In addition to environmental factors, genetic factors may play an important role in determining the onset of FAP. ( info) |
18/75. New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. A 62-year-old Portuguese man, with no history of familial amyloid polyneuropathy (FAP), and a 2(1/2)-year history of tingling in the toes and sexual dysfunction was found neurophysiologically to have a sensory-motor axonal polyneuropathy. Autonomic tests showed slight sympathetic and marked parasympathetic involvement. heart, kidney, and eyes were normal. Single strand conformation polymorphism (SSCP) mutation analysis for the transthyretin (TTR) gene was performed. The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP, i.e., TTR V30M. dna sequencing analysis revealed an A-to-G transition in the first base of codon 28 normally encoding a valine, giving rise to a methionine residue. The presence of this extra methionine was confirmed by peptide mapping and mass spectrometry analysis. biopsy of nerve and skin of the propositus showed amyloid deposits that were immunoreactive for TTR. This is a new variant TTR related to late-onset amyloid neuropathy with autonomic dysfunction. This case confirms that TTR mutation screening should be considered in patients with a clinical disorder consistent with amyloid neuropathy even in the absence of a family history. ( info) |
19/75. Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy. A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities. ( info) |
20/75. Long-term results of liver transplantation in four siblings from the same family with familial amyloidotic polyneuropathy type I TTR Ala-71. Familial amyloidotic polyneuropathy type I (FAP I) is a hereditary systemic amyloidosis usually involving the peripheral nervous system. In this paper we report our experience regarding the survival and the evolution of the sensory motor syndrome of the extremities and autonomic dysfunction in four siblings with the Ala-71 variant who were treated by liver transplantation (LT). The four siblings are alive 2-5 years after LT. After the operation, the seriated determinations of TTR-Ala-71 variant showed a constant decrease in serum levels in all cases. Our results support the proposal that LT should be indicated especially in forms with early clinical onset (3rd and 4th decades) and rapid progress to stop the neurological deterioration of the patients. ( info) |