Lewis-Sumner Syndrome and Tangier Disease

Théaudin, Marie; Couvert, Philippe; Fournier, Emmanuel; Bouige, Daniel; Bruckert, Éric; Perrotte, Paul; Vaschalde, Yvan; Maisonobe, Thierry; Bonnefont‐Rousselot, Dominique; Carrié, Alain; Forestier, Nadine Le

doi:10.1001/archneur.65.7.968

Cited by 12 publications

(11 citation statements)

References 10 publications

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“…In this study, similar to the literature, peripheral neuropathies were divided into 4 subtypes according to clinical findings and course. 8,10,12,48,57 Contrary to the previous studies suggesting that the SMLN subtype was rare, 15,16,47,49,58 our findings showed that this subtype was more frequent than other peripheral neuropathy subtypes. Peripheral neuropathy was first manifestation of SMLN subtype and facial region was the initial presentation region in some of these patients.…”

Section: Discussioncontrasting

confidence: 99%

“…However, the mechanisms of peripheral neuropathy in TD are still unclear . Demyelinating findings in electrophysiologic studies are recognized in TD neuropathy . In our analysis, we found that nerve conduction abnormalities were more prominent in the upper extremities than in the lower extremities, and the sural‐sparing pattern was rather frequent as similar as CIDP.…”

Section: Discussionmentioning

confidence: 61%

“…33,49 Demyelinating findings in electrophysiologic studies are recognized in TD neuropathy. 15,36,44,59 In our analysis, we found that nerve conduction abnormalities were more prominent in the upper extremities than in the lower extremities, and the sural- Unkn.…”

Section: Discussionmentioning

confidence: 62%

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Peripheral neuropathy in Tangier disease: A literature review and assessment

Mercan

Yayla

Altınay

et al. 2018

J Peripheral Nervous Sys

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Tangier disease (TD) (OMIM#205400) is a rare cause of inherited metabolic neuropathies characterized by marked deficiency of high-density lipoproteins and accumulation of cholesterol esters in various tissue resulting from reverse cholesterol transport deficiency. We report a case of a patient with TD with multifocal demyelinating neuropathy with conduction block who presents with winging scapula, tongue, and asymmetric extremity weakness. We also present a review of all studies published from 1960 to 2017 regarding peripheral neuropathy in TD. Our search identified 54 patients with TD with peripheral neuropathy. Syringomyelia-like neuropathy subtype (52.4%) was more frequent than multifocal sensorial and motor neuropathy subtype (26.2%), focal neuropathy subtype (19.1%), and distal symmetric polyneuropathy subtype (2.4%). Splenomegaly was the most common (40.7%) clinical manifestation in these patients. The pattern of electrodiagnostic abnormalities are: (1) demyelinating abnormalities were more predominant in the upper extremities than in the lower extremities and (2) slowing of motor nerve conduction was more prominent in the intermediate segment than in distal nerve segments. The sural-sparing pattern was present in 34.6% and conduction block was present in 11.5% of the patients. Our literature review and our case showed the clinical spectrum of TD neuropathy is quite wide and that it should be considered in the differential diagnosis of non-uniform demyelinating neuropathies.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 61%

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Peripheral neuropathy in Tangier disease: A literature review and assessment

Mercan

Yayla

Altınay

et al. 2018

J Peripheral Nervous Sys

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“…Théaudin et al 77 reported a case of Tangier disease in a 15-year-old girl with subacute onset demyelinating asymmetric neuropathy with upper limb conduction block mimicking the Lewis-Sumner syndrome. CSF protein was normal.…”

Section: Resultsmentioning

confidence: 99%

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Rajabally

Adams

Latour

et al. 2016

J Neurol Neurosurg Psychiatry

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International audienceDistinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is less clear. The advent of molecular genetics has in the past several years aided confirmatory diagnosis for an increasing proportion of patients with genetic neuropathy. Various reports have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory neuropathy occasionally responding to immunotherapy. Possible predisposition to an inflammatory component was suggested in a subset of patients. Such reports have, however, been relatively few in number, suggesting the rarity of such associations and of such a predisposition if it exists. There have been a number of publications detailing clinical presentations suggestive of inflammatory neuropathy in patients with a known or later proven genetic aetiology, and subsequently felt to be part of the phenotype rather than representing an association. A number of genetically mediated multisystemic diseases with neuropathy have otherwise been reported as mimicking chronic inflammatory demyelinating polyneuropathy (CIDP). The most common example is that of familial amyloid polyneuropathy, of particular concern for the clinician when misdiagnosed as CIDP, in view of the therapeutic implications. We review the literature on reported associations, mimics and misdiagnoses of hereditary and inflammatory neuropathy and attempt to determine a practical approach to the problem in clinical practice using clinical features, electrophysiology, histopathology and targeted early genetic testing. The issue of attempting immunomodulatory therapy is discussed in view of the published literature

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“…Two main syndromes are seen: (1) a pseudo-syringomyelic syndrome [32,33], which commences after the second decade and causes dissociated sensory loss particularly for pain in the face, arms, and upper trunk followed by symmetrical progressive facio-brachial wasting and weakness, or (2) a multiple mononeuropathy involving motor and all sensory modalities with a relatively benign, relapsingremitting course which commences in the first two decades. Cases resembling the Lewis-Sumner syndrome are on record [34].…”

Section: Pathophysiology and Clinical Featuresmentioning

confidence: 99%