Scleromyxoedema, blistering lesions and progressive sensorimotor neuropathy in Waldenström’s macroglobulinaemia

AbstractMalignant external otitis is classically associated with insulin-dependent diabetes mellitus probably due to generalized systemic immunodeficiency (Mowet and Baum, 1971). A unique case of malignant external otitis associated with Waldenstrom's macroglobulinaemia is presented.

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Anti-tubulin antibodies in a sensorimotor neuropathy patient alter tubulin polymerization

Acta Neuropathologica ◽

10.1007/s004010050802 ◽

1998 ◽

Vol 95 (3) ◽

pp. 302-305 ◽

Cited By ~ 7

Author(s):

E. B. Stubbs Jr. ◽

Morris A. Fisher ◽

George J. Siegel

Keyword(s):

Tubulin Polymerization ◽

Sensorimotor Neuropathy ◽

Tubulin Antibodies

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Severe sensorimotor neuropathy after intake of highest dosages of vitamin B6

Neuromuscular Disorders ◽

10.1016/j.nmd.2007.09.009 ◽

2008 ◽

Vol 18 (2) ◽

pp. 156-158 ◽

Cited By ~ 42

Author(s):

Hans-Jürgen Gdynia ◽

Timo Müller ◽

Anne-Dorte Sperfeld ◽

Peter Kühnlein ◽

Markus Otto ◽

...

Keyword(s):

Vitamin B6 ◽

Sensorimotor Neuropathy

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28645 IgG lambda monoclonal gammopathy, scleromyxedema, and sensorimotor neuropathy

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2021.06.823 ◽

2021 ◽

Vol 85 (3) ◽

pp. AB202

Author(s):

Sunita Odedra ◽

Tanveer Chohan ◽

Alena Salim

Keyword(s):

Monoclonal Gammopathy ◽

Sensorimotor Neuropathy

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Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy

BMJ Case Reports ◽

10.1136/bcr-2021-244641 ◽

2021 ◽

Vol 14 (10) ◽

pp. e244641

Author(s):

Petya Bogdanova-Mihaylova ◽

Patricia McNamara ◽

Sarah Burton-Jones ◽

Sinéad M Murphy

Keyword(s):

Corpus Callosum ◽

Autosomal Recessive ◽

Sensory Neuropathy ◽

Rare Condition ◽

Compound Heterozygous ◽

Sensorimotor Neuropathy ◽

Autosomal Recessive Condition ◽

Solute Carrier ◽

Compound Heterozygous Mutations ◽

Clinical Phenotyping

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is a rare autosomal recessive condition characterised by early-onset severe progressive neuropathy, variable degrees of ACC and cognitive impairment. Mutations in SLC12A6 (solute carrier family 12, member 6) encoding the K+–Cl- transporter KCC3 have been identified as the genetic cause of HMSN/ACC. We describe fraternal twins with compound heterozygous mutations in SLC12A6 and much milder phenotype than usually described. Neither of our patients requires assistance to walk. The female twin is still running and has a normal intellect. Charcot-Marie-Tooth Examination Score 2 was 8/28 in the brother and 5/28 in the sister. Neurophysiology demonstrated a length-dependent sensorimotor neuropathy. MRI brain showed normal corpus callosum. Genetic analysis revealed compound heterozygous mutations in SLC12A6, including a whole gene deletion. These cases expand the clinical and genetic phenotype of this rare condition and highlight the importance of careful clinical phenotyping.

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