The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

Topçu, Yasemin; Bayram, Erhan; Karaoğlu, Pakize; Yış, Uluç; Kurul, Semra Hız

doi:10.4103/0972-2327.120451

Cited by 9 publications

(3 citation statements)

References 25 publications

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“…8 12 Another prominent hypothesis states that neurochemical abnormalities could be the cause of SS, specifically an alteration of dopamine-related thermoregulation, since dopamine has been regarded as an excitatory neurotransmitter of warm-sensitive neurons in the anterior hypothalamus/preoptic region. 6 13 14 15 The patient's history of viral encephalitis could suggest that postencephalitic hypothalamic network damage specifically of the termo- and sudomotor regulatory nuclei of the hypothalamus could explain the clinical presentation of the patient. However, no brain metabolic abnormality was found on the PET scan as literature suggests.…”

Section: Discussionmentioning

confidence: 99%

Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges

Monjaras-Romo

Villarreal

Diaz-Arizpe

et al. 2021

Journal of Pediatric Neurology

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Shapiro syndrome (SS) is a rare disorder characterized by a triad of spontaneous periodic hypothermia, hyperhidrosis, and corpus callosum agenesis (CCA). Less than 80 cases have been reported so far. Its etiology and pathophysiology, however, are still unclear. In his original publication, Shapiro et al attributed these signs to dysregulation of encephalic pathways secondary to CCA. Nevertheless, since the syndrome was originally described, 19 patients have been reported with an intact corpus callosum, considering it a variant of the condition. In this article, we report the clinical outcome of a 20-month-old girl with SS without evidence of CCA, presenting an atypical onset in which sleep abnormalities were the most prominent complaints, with the classical episodic manifestations appearing afterward; the patient exhibited an optimal response to management with oxcarbazepine. To our understanding, this is fourth-youngest case ever reported of this SS variant, and the first to present sleep disturbances as the most prominent complaint.

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Section: Discussionmentioning

confidence: 99%

Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges

Monjaras-Romo

Villarreal

Diaz-Arizpe

et al. 2021

Journal of Pediatric Neurology

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“…The hypothesized causes include hypothalamic dysfunction, neurochemical abnormalities, inflammatory processes and epileptic activity. 3 , 6 , 7 , 8 Episodic and paroxysmal hypothermia is considered the hallmark of typical and variant SS while other signs and symptoms associated with SS occur with variable frequency during hypothermia. 2 The clinical signs most frequently associated with hypothermia (defined by the detection of an internal temperature <35°C) are profuse sweating, nausea and vomiting, a “strange sensation” referred to the head that is difficult to identify, weakness, unsteady gait, drowsiness, bradycardia, pale and cold skin.…”

Section: Introductionmentioning

confidence: 99%

Immunogenicity and safety of BNT162b2 mRNA COVID-19 vaccine in a subject affected by Shapiro’s syndrome: A case report

Moscara

Tafuri

Gagliardi

et al. 2022

Human Vaccines & Immunotherapeutics

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Shapiro’s syndrome (SS) is a rare neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis without identifiable systemic causes or brain injuries. We present the case of F. a young patient, without agenesis of the corpus callosum and with episodes of recurrent hypothermia, who was successfully immunized against SARS-CoV-2 via vaccination. F. was born on 2012 and started suffering from episodes of hypothermia at the age of three, with body temperature reaching as low as 32.8°C Hypothermia episodes were initially associated with ibuprofen intake, but were later defined as symptoms of SS. No SARS-CoV-2 infections had been reported before vaccination. The subject received the first dose of pediatric formulation anti-SARS-CoV-2 Comirnaty vaccine on 11 January 2022 and the second dose on 5 February 2022. A one-week follow-up for adverse events was performed via telephone contact after both administrations. Further contact occurred one month after immunization. Anti-SARS-CoV-2 IgG titers were evaluated fifteen days after administration of the second dose. Following vaccination, slight fluctuations in body temperature and local adverse events were noted. These adverse events were not worrying; the vaccine’s safety profile is therefore confirmed. The child also developed an excellent antibody titer (>28x10 3 AU/ml), thus suggesting a good immune response.

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“…1994-ben Hirayama és mtsai közölték az első reverz SS-t, amelyet a corpus callosum agenesiához (ACC) társuló spontán periodikus hyperthermia jellemez. 2013-ban egy 3,5 éves kislánynál került először leírásra ACC-hez társuló periodikus hypothermia és hyperthermia egyaránt, amely alapján a Shapiro-és reverz Shapiro-szindrómát már nem tartják különálló entitásnak [2]. ACC nélkül megjelenő SS fenotípust variáns SS formának nevezi az irodalom.…”

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Shapiro-szindróma, azaz a termoregulációs zavar ritka esete

Szabó¹,

Zádori

Varga

et al. 2016

Orvosi Hetilap

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A corpus callosum anomáliái a központi idegrendszer leggyakoribb fejlődési rendellenességei. A corpus callosum agenesiához társuló spontán periodikus hypothermia és hyperhidrosis triászt Shapiro-szindrómának nevezték el. A Shapiro-szindróma ritka kórkép, amely bármilyen életkorban megjelenhet. A corpus callosum agenesia nem megkülönböztető jegye a szindrómának, mint azt korábban feltételezték, a paroxysmalis hypothermia bizonyult a fő betegségjegynek. A rekurrens hypothermia hátterében a maghőmérséklet beállításáért felelős hypothalamus működési zavarát feltételezik, de a pontos patofiziológia még nem ismert. Definitív terápia nem létezik, az életminőséget viszont kedvezően befolyásoló szupportív terápiás alternatívák állnak rendelkezésre. A szerzők az esetismertetésben az első, hazánkban diagnosztizált Shapiro-szindrómás beteget mutatják be. A 21 éves férfi beteg fő tünete a rekurrens hyperhidrosis és hypothermia, következményes elesett általános állapot volt. A koponya mágneses rezonanciás vizsgálata corpus callosum agenesiát igazolt. A betegnél az empirikusan indított clonidinterápia hatásosnak bizonyult, s mint számos korábban közölt esetben, a klinikai tünetek remissziója jelentkezett. Orv. Hetil., 2016, 157(7), 275-278. Kulcsszavak: corpus callosum agenesia, Shapiro-szindróma, termoregulációs zavar A rare case of thermoregulation disorder: Shapiro syndromeAnomalies of the corpus callosum are the most frequent malformations of the central nervous system. The triad of spontaneous periodic hypothermia and hyperhydrosis with the agenesis of corpus callosum is described as Shapiro syndrome. Shapiro syndrome is a very rare condition and it can occur in every age group. The presence of agenesis of corpus callosum is not a strict criteria of the syndrome; the most important presenting symptom is paroxysmal hypothermia. Although the definite cause of recurrent hypothermia is unknown, dysfunction of the hypothalamus is suspected. From therapeutic aspects, only supportive therapy is available. In this report the authors present the first Shapiro syndrome case diagnosed in Hungary. The main symptoms of the 21-year-old male patient were recurrent hyperhydrosis with hypothermia resulting in severe general malaise. The skull magnetic resonance imaging demonstrated agenesis of corpus callosum. The patient was treated with clonidine resulting in significant improvement of symptoms.

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The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

Cited by 9 publications

References 25 publications

Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges

Atypical Case of Early-Onset Shapiro Syndrome: Diagnostic Approach and Therapeutic Challenges

Immunogenicity and safety of BNT162b2 mRNA COVID-19 vaccine in a subject affected by Shapiro’s syndrome: A case report

Shapiro-szindróma, azaz a termoregulációs zavar ritka esete

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