Open AccessEpisodic neurological dysfunction in hereditary peripheral neuropathy
Author(s) -
Girish Baburao Kulkarni,
Pooja Mailankody,
Pawanraj Palu Isnwara,
Chandrajit Prasad,
Veerendrakumar Mustare
Publication year - 2014
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.144314
Subject(s) - medicine , asymptomatic , family history , peripheral neuropathy , neurological examination , asymptomatic carrier , pediatrics , physical examination , medical history , brother , disease , pathology , surgery , diabetes mellitus , endocrinology , sociology , anthropology
Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.