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Shapiro syndrome is a very rare condition characterized by the triad of episodic hypothermia, hyperhidrosis, and agenesis of the corpus callosum 1. A similar syndrome, characterized by episodic hyperthermia and agenesis of the corpus callosum, has been termed reverse Shapiro syndrome 2.
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Shapiro syndrome is thought to be exceedingly rare, with less than 100 cases having been reported in the literature 1. The syndrome can manifest at any age 1,3-6.
Reverse Shapiro syndrome is considered even rarer, with less than five cases having been reported 1,2.
Patients with Shapiro syndrome present with episodic or periodic hypothermia and whole-body hyperhidrosis 1,3-5. Episodes typically occur without warning and last hours in length 1,3-5. Additionally, patients may also have chills or rigors, often following an episode of hyperhidrosis, in order to increase body temperature 1,3-5. Typically there are no other neuropsychiatric symptoms or other evidence of hypothalamic dysfunction (e.g. hypogonadism, diabetes insipidus, precocious puberty) 1,3-5.
In reverse Shapiro syndrome, the clinical presentation is one of episodic or periodic hyperthermia 1,2. Similar to Shapiro syndrome, these patients have no other neuropsychiatric symptoms or other evidence of hypothalamic dysfunction 1,2.
While thermoregulation is complex, the role of the hypothalamus is considered central to this process 1,3,4,6. The anterior hypothalamus plays a pivotal role in heat dissipation while the posterior hypothalamus plays a role in heat conservation 1,3,4,6. Thus, lesions of different parts of the hypothalamus may produce hyperthermia or hypothermia respectively 1,3,4,6.
However, in Shapiro syndrome and reverse Shapiro syndrome, there is typically no hypothalamic lesion, and thus, hypothalamic dysfunction is thought to be due to corpus callosum agenesis 1,3-5. How this dysfunction exactly occurs is a subject of conjecture and there are multiple theories, including neuronal network disconnection between the hypothalamus and other part of the brain due to the absence of the corpus callosum, an underlying neurodegenerative process, or a possible epileptic focus 1,3-5.
Patients with Shapiro syndrome and reverse Shapiro syndrome will have typical features of agenesis of the corpus callosum, which is best appreciated on MRI brain 1-6.
Treatment and prognosis
Management is guided by case report-level evidence, with effective agents being clonidine, clomipramine, and cyproheptadine 1. These agents have been shown to reduce frequency of episodes, or in some cases, result in cessation of episodes 1.
History and etymology
The first two cases describing patients with this syndrome were described by William R Shapiro and his colleagues in their 1969 seminal publication 7.
Clinical differential diagnoses:
- episodic spontaneous hypothermia with hyperhidrosis syndrome: not associated with corpus callosum agenesis 1
- periodic hypothermia and hyperhidrosis associated with acquired lesions of the hypothalamus (e.g. tumors, demyelination, stroke, infection) 1
- 1. Blondin NA. Diagnosis and management of periodic hypothermia. (2014) Neurology. Clinical practice. 4 (1): 26-33. doi:10.1212/01.CPJ.0000437350.47610.3a - Pubmed
- 2. Hirayama K, Hoshino Y, Kumashiro H, Yamamoto T. Reverse Shapiro's syndrome. A case of agenesis of corpus callosum associated with periodic hyperthermia. (1994) Archives of neurology. 51 (5): 494-6. doi:10.1001/archneur.1994.00540170070018 - Pubmed
- 3. Tambasco N, Belcastro V, Prontera P, Nigro P, Donti E, Rossi A, Calabresi P. Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. (2014) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18 (4): 453-7. doi:10.1016/j.ejpn.2014.02.001 - Pubmed
- 4. Klingler ET, Meyer K. Shapiro's syndrome: a renewed appreciation for vital signs. (2004) Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 38 (10): e107-8. doi:10.1086/386337 - Pubmed
- 5. Shenoy C. Shapiro syndrome. (2008) QJM : monthly journal of the Association of Physicians. 101 (1): 61-2. doi:10.1093/qjmed/hcm106 - Pubmed
- 6. Boulant JA. Role of the preoptic-anterior hypothalamus in thermoregulation and fever. (2000) Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 31 Suppl 5: S157-61. doi:10.1086/317521 - Pubmed
- 7. Shapiro WR, Williams GH, Plum F. Spontaneous recurrent hypothermia accompanying agenesis of the corpus callosum. (1969) Brain : a journal of neurology. 92 (2): 423-36. doi:10.1093/brain/92.2.423 - Pubmed