The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro’s or/and reverse Shapiro’s syndrome Yasemin Topcu, Erhan Bayram, Pakize Karaoglu, Uluc Yis, Semra Hiz Kurul Department of Pediatrics, Dokuz Eylul University Medical Faculty, Division of Pediatric Neurology, İzmir, Turkey Abstract 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.
Key Words Agenesis of corpus callosum, Shapiro’s syndrome, vomiting For correspondence: Dr. Yasemin Topcu, Department of Pediatrics, Dokuz Eylul University Medical Faculty, Division of Pediatric Neurology,
Introduction Shapiro syndrome, first described in 1969 by Shapiro et al., is an extremely rare condition consisting of the clinical triad of recurrent hypothermia, hyperhidrosis, and agenesis of the corpus callosum. The syndrome has agenesis of the corpus callosum as a hallmark. To date, about 50 cases have been reported.[1‑9] On the other hand, reverse Shapiro’s syndrome is characterized with periodic hyperthermia and agenesis of the corpus callosum. Hirayama et al. reported a 14‑year‑old girl presenting with periodic hyperthermia associated with agenesis of the corpus callosum in 1994. This case was the first reported case of “reverse” Shapiro’s syndrome. Lin and Wang reported a 9‑month‑old girl presenting with fever of unknown origin since the age of 7 months in 2005 who had agenesis of corpus callosum. Characteristic properties of these two syndromes are dysregulation of body temperature and agenesis of corpus callosum. Access this article online Quick Response Code:
According to our knowledge, there are only two described cases of periodic hyperthermia episodes associated with agenesis of the corpus callosum. However, there is no described case with episodes of hyperthermia and hypothermia, recurrent vomiting together with agenesis of the corpus callosum.
Case Report A 3.5‑year‑old girl was admitted to the Dokuz Eylul University Hospital with complaints of recurrent fever and vomiting. The patient had a history of hyperthermia episodes and vomiting, which started 4 months before admission. She had an axillary daily spiking fever up to 40°C. Fever and vomiting attacks lasted for 3‑8 days. Vomiting did not accompany fever in all of the episodes. Besides these fever attacks, her mother mentioned that her child was also “becoming cold” during the day and this condition lasted approximately 1 h with accompanying diaphoresis. She had been investigated at other hospitals and had been treated with antibiotics for a presumed infection many times. She had agenesis of the corpus callosum, which was determined during the intrauterine period. She had psychomotor retardation. The parents were not consanguineous. There was no history of exposure to tuberculosis, cats, tick, insect bites, rash, arthralgia, arthritis, diarrhea, constipation, abdominal pain, or weight loss. On physical examination, her weight, height, and head circumference were 10 kg (
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