Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature

Franques, Jérôme; Sahuc, P.; Dussol, Bertrand; Pénaranda, Guillaume; Swiader, L.; Froissart, Roseline; Attarian, S.; Stavris, C.; Chiche, Laurent; Pouget, Jean

doi:10.1016/j.neurol.2017.05.007

Cited by 9 publications

(2 citation statements)

References 23 publications

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“…FD patients have a marked reduction in myelinated Aδ fibers (which regulate sharp pain and sense cold), nonmyelinated class C fibers (pain, warm sensation), and nonmyelinated autonomic fibers. The cause of temperature paresthesia is related to small nerve C fibers, which are particularly associated with Aδ fiber dysfunction (15). Neuralgia in FD can also present as arthralgia.…”

Section: Discussionmentioning

confidence: 99%

Clinical features and enzyme replacement therapy in 10 children with Fabry disease

Wang²,

Tian³

et al. 2023

Front. Pediatr.

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ObjectiveTo summarize the clinical features, diagnosis and enzyme replacement therapy(ERT) of Fabry disease (FD) in children.MethodsThe clinical data, laboratory tests, genetic variations and treatment of 10 FD children diagnosed in Shandong Provincial Hospital from September 2020 to June 2022 were retrospectively analyzed.ResultsAmong the 10 cases from 6 families, 7 patients were boys of 4 to 13 years of age, and 3 were girls of 12 to 15 years of age. There were 7 symptomatic patients, including 6 boys and 1 girl. All 7 patients presented with acral neuralgia. Five patients had little or no sweating. Five patients presented with cutaneous angiokeratoma. Two patients had abdominal pain. One patient developed joint symptoms. Four patients had corneal opacity. One patient had hearing loss; one patient had short stature. One patient had mild proteinuria and 1 patient had dysplasia of the right kidney with decreased eGFR (55.28 ml/min.1.73 m2). The left ventricular mass index was slightly elevated in 1 patient. Three patients had mild obstructive ventilatory dysfunction; a small amount of effusion in the intestinal space of the lower abdomen or mild fatty liver was found in 2 patients. Partial empty sella turcica in 1 patient. A total of 6 GLA gene variants were detected in 10 children, among which C.1059_1061delGAT (p.met353del) was a newly discovered mutation. Five children received ERT, of which 4 were treated with agalsidase beta and 1 was treated with agalsidase alpha. Only 1 patient had anaphylaxis. Lyso-GL-3 levels decreased significantly in the first 3 months of ERT initiation and remained relatively stable thereafter in 3 patients. The Lyso-GL-3 level was decreased, but renal impairment continued to progress in 1 patient treated with agalsidase alpha.ConclusionThe clinical manifestations of FD in childhood are diverse, and it is necessary to make a definite diagnosis by combining family history, enzyme activity, biomarkers, gene testing and other indicators. Pedigree screening and high-risk population screening are helpful for early identification, early diagnosis and early treatment. No serious adverse reactions were found during the short-term treatment with agalsidase alpha and beta.

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Section: Discussionmentioning

confidence: 99%

Clinical features and enzyme replacement therapy in 10 children with Fabry disease

Wang²,

Tian³

et al. 2023

Front. Pediatr.

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“…85 Further causes of small fiber neuropathy include alcoholism, 86 amyloidosis, 87,88 and Fabry's disease. 89,90 Small-fiber neuropathies, unlike large-fiber neuropathies, are unlikely to be caused by vasculitis. 91,92 Anhidrosis features prominently in the extremely rare diagnoses of hereditary sensory and autonomic neuropathy types IV and V. These patients present with congenital insensitivity to pain with anhidrosis caused by mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase receptor type 1.…”

Section: Peripheral Nervous System Diseasementioning

confidence: 99%

Sudomotor Dysfunction

Cheshire

2020

Semin Neurol

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Disorders of sudomotor function are common and diverse in their presentations. Hyperhidrosis or hypohidrosis in generalized or regional neuroanatomical patterns can provide clues to neurologic localization and inform neurologic diagnosis. Conditions that impair sudomotor function include small fiber peripheral neuropathy, sudomotor neuropathy, myelopathy, α-synucleinopathies, autoimmune autonomic ganglionopathy, antibody-mediated hyperexcitability syndromes, and a host of medications. Particularly relevant to neurologic practice is the detection of postganglionic sudomotor deficits as a diagnostic marker of small fiber neuropathies. Extensive anhidrosis is important to recognize, as it not only correlates with symptoms of heat intolerance but may also place the patient at risk for heat stroke when under conditions of heat stress. Methods for assessing sudomotor dysfunction include the thermoregulatory sweat test, the quantitative sudomotor axon reflex test, silicone impressions, and the sympathetic skin response.

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Small fiber neuropathy: Diagnosis, causes, and treatment

Sène

2018

Joint Bone Spine

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Peripheral nerve involvement in Fabry's disease: Which investigations? A case series and review of the literature

Cited by 9 publications

References 23 publications

Clinical features and enzyme replacement therapy in 10 children with Fabry disease

Clinical features and enzyme replacement therapy in 10 children with Fabry disease

Sudomotor Dysfunction

Small fiber neuropathy: Diagnosis, causes, and treatment

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