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Shapiro's Syndrome

Authors: Prerana Warwade,; GS Rai,; Vikas Warwade;

Shapiro's Syndrome

Abstract

{"references": ["1. Suite B. Shapiro Syndrome, Genetic and Rare Diseases Information Center (GARD). National Institutes of Health. International Hyperhidrosis Society. 2016. 2. Shapiro WR, Williams GH, Plum F. Spontaneous recurrent hypothermia accompanying agenesis of the corpus callosum. Brain 1969;92:423-36. 3. Tambasco N, Belcastro V, Prontera P, Nigro P, Donti E, Rossi A, et al. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. Eur J Paediatr Neurol. 2014; 18(4):453-7. 4. Topcu Y, Bayram E, Karaoglu P, Yis U, Kurul SH. The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome.. Ann Indian Acad Neurol. 2013; 16(4):716- 9. 5. Shenoy C. Shapiro syndrome. QJM. 2008;101(1):61-2 6. Duman O. Spontaneous periodic hypothermia. Orphanet. 2013:1-2."]}

Shapiro's syndrome(SS) is an extremely rare disease consisting of paroxysmal hypothermia, hyperhidrosis and [1] corpus callosum agenesis with onset typically on adulthood. We reported a case of 15 year old male presented with classical triad of sudden onset of headache associated with episodes of profuse sweating, low body temperature and excessive shaking/shivering. On MR imaging complete agenesis of corpus callosum with colpocephaly, dilated and highly placed 3rd ventricle. Nasal encephalocele and anterior linear falcine lipoma is seen in this case which had not been recorded in previously reported case.

Keywords

colpocephaly, encephalocele, falcine lipoma, shapiro's syndrome

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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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impulse
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