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.
Cephalometric analysis performed on lateral X-ray allow orthodontists to evaluate soft tissues as well. Enlargement of adenoids, changes of the position of the tongue can be diagnosed parallel with skeletal assessment.
Our purpose was to investigate the skeletal growth direction and the posterior airway depth in mouth breather patients and to underline the importance of a complex cephalometric analysis prior orthodontic treatment.
30 mouth breather patients were selected from our database (17 boys and 13 girls, age 10.8±1.2), in every case ENT examination confirmed the hypertrophy of adenoids. From the same database 30 patients with normal breathing pattern (17 boys and 13 girls, age 11.1±0.9) for the control group. For every patient, the size of the adenoids, the depth of the palate and the position of the tongue. After filtering out the outliers in GraphPad-InStat system, standard deviation (±SD) was calculated, descriptive analytical statistics were performed.
Statistically significant differences were recorded regarding: 1.) the distance between adenoid vegetation and the palate (p=0.014, mouth breathers mean 9.76 ± SD 3.04; control group mean 14.38 ± SD 4.41), 2.) the distance between Sella and the adenoids (p=0.186, study group mean 33.39 ± SD 4.39; control group mean 28.38 ± SD 8.91), 3.) adenoidal-nasopharyngeal ratio (p = 0.05).
Cephalometric evaluation of adenoids revealed considerable enlargement of this in mouth-breather children, meanwhile upper airway constriction will appear in the same group. Depth of the palatum will increase when breathing pattern is modified.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.