Vasculitic neuropathy is commonly associated with systemic vasculitis, leading to ischemic damage to the peripheral nerves and axonal degeneration. The typical clinical manifestation of vasculitic neuropathy is a sensory-dominant multiple mononeuropathy often accompanied by pain. Although vasculitic neuropathy is caused by various systemic diseases, ANCA-associated vasculitis, secondary systemic vasculitis linked to various collagen diseases, and non-systemic vasculitic neuropathy hold particular significance. A comprehensive understanding of vasculitic neuropathy is crucial for its early diagnosis, contributing to an improved prognosis for this condition.
The antiganglionic acetylcholine receptor (AChR) antibody is a serological marker for autoimmune autonomic ganglionopathy (AAG).1 2 Typical AAG cases show monophasic progression evolving to peak severity within a few days to weeks.1 3 Before the establishment of AAG as a disease entity, it was called acute pandysautonomia, autoimmune autonomic neuropathy, idiopathic autonomic neuropathy or subacute autonomic neuropathy.1 2 While most cases of AAG show an acute or subacute course to reach its nadir, similar to the somatic counterpart Guillain–Barre syndrome, the nosological position of AAG cases with a chronic course is obscure.
In this report, we describe the clinical features and sural nerve biopsy findings in a case with slowly progressive autonomic neuropathy and positive for antiganglionic AChR antibody followed up for 15 years.
A male patient noted faintness upon standing at age 61 (in 1994, 7 years before admission to our hospital). Not long afterwards, he felt palpitation, shortness of breath and dizziness during walking. He sometimes lost consciousness while walking after he felt such symptoms. He suffered from diarrhoea 4 years later. Family history was negative. As the loss of consciousness and diarrhoea gradually became frequent, he was admitted to a hospital at age 67, where hypohidrosis and dry …
Objective The autonomic functions of hereditary transthyretin (ATTRm) amyloidosis, traditionally referred to as familial amyloid polyneuropathy, have primarily been investigated in patients with Val30Met mutations, and information regarding non-Val30Met patients is scarce. The aim of this study was to systematically investigate the cardiac and peripheral vasomotor autonomic functions in non-Val30Met patients. Methods The coefficient of variation of R-R intervals (CVR-R), responses to the Valsalva manoeuvre, head-up tilt test results, noradrenaline infusion test results, and the (123) I-metaiodobenzylguanidine (MIBG) uptake on myocardial scintigraphy were assessed in five patients. The predominant manifestations were neuropathy in three patients (Val94Gly, Val71Ala, and Pro24Ser), cardiomyopathy in one (Thr60Ala), and oculoleptomeningeal involvement in one (Tyr114Cys). Results Although one patient with predominant cardiomyopathy did not manifest orthostatic hypotension during the head-up tilt test, the CVR-R, responses to the Valsalva manoeuvre, and myocardial MIBG uptake indicated the presence of cardiac sympathetic and parasympathetic dysfunction in all patients. The total peripheral resistance at 60° tilt did not increase from the baseline values in any of the examined patients. An infusion of low-dose noradrenaline induced an increase in the systolic blood pressure, except in one patient with mild neuropathy. Conclusion Cardiac and peripheral vasomotor autonomic dysfunctions were prevalent in non-Val30Met patients, irrespective of their phenotype, suggesting a common pathology of autonomic involvement. However, the vasoconstrictor function was preserved, even in a patient with advanced neuropathy.
A patient with chronic alcoholism presented with myelopathy and low serum folate and cobalamin levels. A 42-year-old alcoholic man had gait disturbance for 4 months. A neurological examination revealed marked spasticity with increased deep tendon reflexes and extensor plantar responses of the lower limbs. His cobalamin level was decreased and his serum folate level was particularly low. His plasma ammonia level was not increased. Abstinence and folic acid and cobalamin supplementation stopped the progression of his neurological deficits. This case indicates that nutritional deficiency should be monitored closely in patients with chronic alcoholism who present with myelopathy.
The present report describes two patients with leprous neuropathy diagnosed in Japan and manifesting with different clinical features. A 78-year-old Japanese man presented with a 3-year history of numbness and weakness affecting the upper and lower extremities. Although he did not have skin eruptions, nerve biopsy revealed acid-fast bacilli. Another patient, a 41-year-old Japanese-Brazilian man, presented with a 1-month history of numbness in the right fourth and fifth fingers and whole-body erythema. These cases highlight the fact that, as a result of worldwide travel and immigration, leprosy should still be considered in the differential diagnosis of neuropathy in developed countries.
The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-endemic areas.
Methods
The authors retrospectively assessed the development of major clinical landmarks and abnormalities of nerve conduction and cardiac examination indices in 50 patients with an age of onset older than 50 years and no relationship to endemic foci.
Results
Once the neuropathic process was initiated, sensory and motor symptoms of both the upper and lower extremities appeared within a period of one and a half years. Digestive and orthostatic symptoms also tended to occur in the early phase of the disease, whereas urinary symptoms appeared in the middle of the disease progress. Along with pain in the extremities, these symptoms progressed over time and significantly disturbed the quality of life during the late phase of the disease, resulting in the need for wheelchair use. Although cardiomyopathy became clinically apparent only in the late phase of the disease, it was found to be the major cause of death. The mean duration of the disease onset to death was 7.3 years. Although values at the time of diagnosis were extremely variable, serial measurements of electrophysiological indices, the cardiothoracic ratio and interventricular septum thickness indicated a steady exacerbation in these outcomes among patients within a span of a couple of years.
Conclusions
The ages of onset of each clinical landmark were extremely variable between patients. However, once an initial symptom appeared, the chronological sequence of other clinical landmarks tended to be uniform, occurring within a relatively short time span.
Importance:The newly recognized entity IgG4related disease (IgG4-RD) is characterized by an elevated IgG4 serum concentration and tissue infiltration by IgG4-positive plasma cells.We describe, for the first time, the clinical features and nerve biopsy findings of a patient with IgG4-RD who presented with neuropathy in the extremities.Observations: A 55-year-old man had histopathologically defined IgG4-RD that manifested as sensorymotor neuropathy.The neuropathic features were multiple mononeuropathies with electrophysiological findings suggestive of axonal neuropathy.Marked thickening with abundant collagen fibers and infiltration of IgG4-positive plasma cells were observed in the epineurium of the biopsied sural nerve.A moderate degree of myelinated fiber loss without evidence of segmental demyelination was present, whereas necrotizing vasculitis was not found.Oral prednisolone therapy ameliorated the neuropathic symptoms.Conclusions and Relevance: This case of IgG4-RD presented as sensory-motor neuropathy with pain and sclerosis of the skin in the extremities.The differential diagnosis of neuropathy should include IgG4-RD.
A 50-year-old man with acute myelogenous leukemia underwent allogeneic bone-marrow transplantation (BMT). He presented with severe diarrhoea 86 days post BMT and was diagnosed with graft-versus-host disease (GVHD) based on skin and rectal biopsies. He complained of numbness and weakness in the distal extremities at 114 days after BMT. His symptoms rapidly deteriorated and he required mechanical ventilation for respiratory failure. His clinical course and the findings of a nerve conduction study fulfilled the criteria for diagnosis of Guillain-Barré syndrome (GBS). Sural nerve biopsy revealed active demyelination and infiltration of macrophages and CD8+ T-cells. After three cycles of intravenous immunoglobulin therapy, his symptoms gradually improved, and he could eventually walk unassisted. Although GBS has been known to develop after allogeneic BMT, the pathogenesis remains unclear, and specific treatment regimens have not been well established. Here, we report a case of GBS, caused by an immune-mediated mechanism related to GVHD, which was successfully treated using intravenous immunoglobulin therapy.
