Internal Medicine: Open Access

Internal Medicine: Open Access
Open Access

ISSN: 2165-8048

+44 1625708989

Maria Alkhasova

Department of Internal Medicine, College of Medicine, University of Kentucky, 800 Rose Street MN 150, Lexington, KY 40506, USA

  • Case Report   
    Carnitine Deficiency in a Patient with Shapiro Syndrome
    Author(s): Paul Yager*, Maria Alkhasova and David Rudy

    Spontaneous hyperhidrosis with hypothermia and agenesis of the corpus callosum is known as Classical Shapiro Syndrome (CSS) and was first reported by Shapiro and Plum in 1967. We report a well-documented case of a 39-yearold woman with SS diagnosed at the age of 5-years-old who was diagnosed with Carnitine deficiency at 30-years-old. This is the first reported case of SS with Carnitine deficiency, which was treated with levocarnitine. Our patient also carries with her several comorbid diagnoses which have been reported in other cases of SS. These include primary amenorrhea (untreated), primary hypothyroidism (treated with levothyroxine and liothyronine), seizure disorder (treated with lamotrigine, levetiracetam, and eslicarbazepine acetates), and hypothermia-induced cytopenia (resolved with the addition of liothyronine). Additionally, this case offers unique insights gained from longi.. Read More»
    DOI: 10.35248/2165-8048.19.9.312

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