A 71‐year‐old man with a 2‐year history of dysesthesia with a glove‐and‐stocking‐type distribution without family history for peripheral neuropathies was referred to our hospital. Symmetrical disturbance of touch and pain sensation and signs suggesting autonomic dysfunction including frequent urination, impotence, constipation, and orthostatic hypotension were noted with mild distal muscle weakness. Given the sensory‐dominant peripheral neuropathy, neuropathy accompanying Sjögren's syndrome was one of our initial differential diagnoses. Despite negative anti‐SS‐A and SS‐B antibodies, chewing gum test revealed decreased salivation. Salivary scintigraphy showed decreased accumulation especially in bilateral parotid glands (Fig. a). Minor salivary gland biopsy then was performed, which revealed only small amount of lymphocytic infiltration. Instead, amyloid deposition was detected with lobular acini atrophy (Fig. b‐d). Genetic testing revealed c.148G>A (p.V30M) mutation in the TTR gene confirming the diagnosis of familial amyloid polyneuropathy (FAP).(a) 99mTc‐O4‐ salivary scintigraphy. Planner scan was started at the same time of the tracer injection. Salivary accumulation is decreased especially in bilateral parotid glands. (b) Hematoxylin and eosin stain of minor salivary gland biopsy. Pale eosinophilic deposition is seen around the excretory duct and lobular acini with lobular acini atrophy. (c–d) The deposition is red–orange in Congo red stain (c) and shows apple–green birefringence (d).Amyloid deposition in salivary glands without oral symptoms is reported to be common in FAP. However, it should be noted that FAP can also cause symptomatic amyloid deposition in salivary glands causing decreased salivation as illustrated in our patient's scintigraphy and histopathology. Although FAP is typically an early‐onset familial disease with autosomal dominant inheritance, FAP can be late‐onset and sporadic without obvious family histories. This case illustrates that FAP can mimic Sjögren's syndrome and that salivary gland histopathology should be carefully examined.ReferencesDo Amaral B, Coelho T, Sousa A, Guimarães A. Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type. Amyloid 2009; 16: 232–8.Johansson I, Ryberg M, Steen L, Wigren L. Salivary hypofunction in patients with familial amyloidotic polyneuropathy. Oral Surg. Oral Med. Oral Pathol. 1992; 74: 742–8.
Neurology and Clinical Neuroscience – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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