Abstract
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 longitudinal care.
Highlights
Spontaneous hyperhidrosis with hypothermia and agenesis of the corpus callosum is known as Classic Shapiro Syndrome (CSS); presence of the corpus callosum is known as Variant Shapiro Syndrome (VSS)
We describe a case of SS diagnosed in a 5-year-old girl who is currently 39-years old. She has a recent diagnosis of carnitine deficiency along with prior diagnoses of intracerebral hemorrhage resulting in a lifelong history of cognitive impairment
Spontaneous hypothermia and agenesis of the corpus callosum is a rare disease with many patients carrying comorbid diagnoses
Summary
Spontaneous hyperhidrosis with hypothermia and agenesis of the corpus callosum is known as Classic Shapiro Syndrome (CSS); presence of the corpus callosum is known as Variant Shapiro Syndrome (VSS). We describe a case of SS diagnosed in a 5-year-old girl who is currently 39-years old She has a recent diagnosis of carnitine deficiency along with prior diagnoses of intracerebral hemorrhage resulting in a lifelong history of cognitive impairment. No:312 decline in functional status which included cerebellar ataxia, confusion, bouts of transaminitis , and decreased muscle tone, leaving her wheelchair-bound During this period, she was hospitalized with many episodes of encephalopathy, which precluded her from taking her medications thereby resulting in breakthrough seizures. Lamotrigine monotherapy was found to be safe and effective During this time the patient received a battery of mitochondrial and cerebellar disease testing resulting in negative anti-Yo, antiMa, anti-Yi, anti- Hu, anti-NMDA, and anti-GAD. She was started on liothyronine, after which she has not had another episode of hypothermia, cytopenia, or encephalopathy
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