Results 221 to 230 of about 10,587 (266)

Hereditary sensory and autonomic neuropathy type IV orthopaedic complications

Journal of Pediatric Orthopaedics B, 2009
Painless fractures with delayed healing or abnormal callus formation require exclusion of a systemic disorder. We report a 9-year-old girl with hereditary sensory and autonomic neuropathy type IV who developed bone changes in the hind foot after a protracted healing of a tibia fracture. Osteomyelitis was considered as a possible cause of destruction of
Ivo, Marik, Miroslav, Kuklik, Dana, Kuklikova, Kazimierz, Kozlowsk   +3 more
openaire   +2 more sources

Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises

Journal of Child Neurology, 2011
Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain.
Anne, Koy, Rainer, Freynhagen, Ertan, Mayatepek, Daniel, Tibussek   +3 more
openaire   +2 more sources

Osteomyelitis or myositis ossificans: a diagnosis in disguise in a case of hereditary sensory and autonomic neuropathy type 4

International Journal of Research in Orthopaedics
Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN-IV), also known as Congenital Insensitivity to Pain with Anhidrosis (CIPA), is an extremely rare condition with loss of peripheral unmyelinated and small myelinated nerve fibres, leading to the ...
Abdulaziz Matar, Mohamed H. Shujaie, Rola Husain   +2 more
semanticscholar   +1 more source

Hereditary sensory and autonomic neuropathy with ataxia and late onset

Clinical Neurology and Neurosurgery, 1994
We report two brothers affected by a dominantly inherited form of hereditary sensory and autonomic neuropathy (HSAN), characterized by clinical features of sensory ataxia, and by late onset in the 6th decade. Sural nerve biopsy in the proband showed almost complete loss of myelinated fibers, and relative sparing of unmyelinated fibers.
A, Marbini, G, Pavesi, G, Cenacchi, A, Mazzucchi, P, Preda, F, Gemignani   +5 more
openaire   +2 more sources

Beyond neuropathy in hereditary sensory and autonomic neuropathy type V: cognitive evaluation

European Journal of Neurology, 2008
Background and purpose:  Hereditary sensory and autonomic neuropathy (HSAN) type V is a very rare disorder. It is characterized by the absence of thermal and mechanical pain perception caused by decreased number of small diameter neurons in peripheral nerves.
D C, de Andrade, S, Baudic, N, Attal, C L, Rodrigues, P, Caramelli, A M M, Lino, P E, Marchiori, M, Okada, M, Scaff, D, Bouhassira, M J, Teixeira   +10 more
openaire   +2 more sources

Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification

Current Neurology and Neuroscience Reports, 2019
Hereditary sensory and autonomic neuropathies (HSANs) are a clinically heterogeneous group of inherited neuropathies featuring prominent sensory and autonomic involvement. Classification of HSAN is based on mode of inheritance, genetic mutation, and phenotype.
Coreen, Schwartzlow, Mohamed, Kazamel
openaire   +2 more sources

Cutaneous innervation in hereditary sensory and autonomic neuropathy type IV

Neurology, 2000
The authors investigated immunocytochemically the innervation of a skin biopsy in a rare case of hereditary sensory and autonomic neuropathy type IV. A few protein gene product 9.5-, growth-associated protein 43-, calcitonin gene-related peptide-, and substance P-immunoreactive nerve fibers were observed in the deeper regions of the dermis ...
VERZE', Laura, VIGLIETTI, Carla Maria, PLUMARI L., CALCAGNI M., STELLA M., SCHRAMA LH, PANZICA, Giancarlo   +6 more
openaire   +5 more sources

[Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].

Revue neurologique, 2012
This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes discovered in 2010 and their underlying phenotypes will be presented.
openaire   +1 more source

Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases

Neurological Sciences, 2023
P. Lorenzoni, D. L. Bayer, R. Ducci, O. H. Fustes, Paula Raquel do Vale Pascoal Rodrigues, L. Werneck, C. Kay, R. Scola   +7 more
semanticscholar   +1 more source

Hereditary sensory and autonomic neuropathy

, 2014
R. King
semanticscholar   +1 more source