Thursday, July 7, 2016

Shapiro's syndrome

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. Eur J Paediatr Neurol. 2014 Jul;18(4):453-7.


Shapiro Syndrome (SS) is a rare condition of spontaneous periodic hypothermia, corpus callosum agenesis (ACC) and hyperhidrosis which can occur at any age. The variant form refers to the phenotypic SS without ACC. We reported the case of SS variant on a 4-year-old boy who presented from his first year frequent episodes of hypothermia lasting 2-3 h with core rectal temperatures <35 °C. In order to understand the characteristics of this rare syndrome we searched all the cases present in literature. Fifty-two cases of SS were found in literature. Among all clinical signs, paroxysmal hypothermia seems to be the hallmark of both typical and variant SS. ACC is reported only in 40% of cases of SS. Hyperhidrosis, another hallmark of SS, was present in only 42.3% of the cases and mainly in adult onset. The presence of SS in siblings of different genders suggests an autosomal recessive inheritance model, however a gonadic mosaicism responsible for an autosomal de novo mutation cannot be ruled out. From our review of well documented cases of SS, we conclude that only the episodic and spontaneous paroxysmal hypothermia should be considered the defining hallmark of typical and variant SS. This can be important to define the clinical manifestation of SS improving the early diagnosis.

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 Oct;16(4):716-9.
Shapiro syndrome is an extremely rare condition consisting the clinical triad of recurrent hypothermia, hyperhydrosis and agenesis of the corpus callosum. On the other hand, reverse Shapiro's sydrome is characterized periodic hyperthermia and agenesis of the corpus callosum. Here, we describe a 3.5-year-old girl with complete agenesis of corpus callosum presenting with recurrent fever and vomiting. She also had hypothermia attacks with accompanying diaphoresis. To the best of our knowledge, there is no described case with episodes of hyperthermia, hypothermia, and vomiting associated with agenesis of the corpus callosum. Recurrent vomiting may be a newly defined symptom associated with these syndromes.


  1. Shapiro WR, Williams GH, Plum F. Spontaneous recurrent hypothermia
    accompanying agenesis of the corpus callosum. Brain. 1969;92(2):423-36.

  2. A 8-year-old boy in otherwise good health, who, since 5 years of age, presented with sporadic episodes of nocturnal hypothermia, associated with pallor and profuse sweating. The axillary body temperature during the episodes was 34.5ºC, lasting for approximately an hour. The episodes recurred 10 or 12 times a month during sleep. Blood analysis indicated a normal complete blood count and blood chemistry. Morning cortisol (am), prolactin, growth hormone, LH and FSH were also normal for age. Thyroid stimulating hormone was 4.8 µU/mL (normal range 0.4 to 4.0), free thyroxine (FT4) was 1.3 µIU/mL (range 4-56). After exclude other causes of hipothyreoidism we performed a TRH stimulation test for the differentiation of hypothalamic from pituitary disease. Plasma TSH was measured before and 15, 30, 45, 60, 120, and 180 min after iv administration of TRH (10 µg·kg-1) An adequate TSH response to TRH was defined by a peak concentration exceeding 15 µU/ml and return to baseline within 3 h. A TRH test demonstrated an blunted response (TSH: basal 2.1 µU/mL and a peak 4.3 µU/mL - deltaTSH <4.5) Hypothalamic morphology was assessed using magnetic resonance imaging...

    We started thyroxine and cyproheptadine, and after one month the patient symptoms disappeared. We emphasize the importance of recognition the syndrome and associated endocrine manisfestations and the current treatment.

    Arkader R, Takeuchi CA. Shapiro syndrome with hypothalamic hypothyroidism. Arq Neuropsiquiatr. 2008 Jun;66(2B):418-9. PubMed PMID: 18641886.