Case Report, Practices Survey and Literature Review of an Under-Recognized Pediatric Vascular Disorder: The BASCULE Syndrome

Abstract

IntroductionBier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud’s phenomenon and chilblain-like lesions), permanent acrosyndromes (acrocyanosis), and transient acrosyndromes, in which their pathogeneses are associated with virus infections, Epstein-Barr virus, and, more recently, SARS-CoV-2, respectively.MethodsWe reported a case of BASCULE syndrome associated with postural orthostatic tachycardia syndrome (POTS) and provided a narrative review of case reports describing the BASCULE syndrome in children. Moreover, we presented the results of a prospective practice survey that we performed in the French medical community.ResultsA 14-years-old boy reported pruritic erythrocyanic lesions on the lower limbs, which occurred whenever he was in a standing position and fully resolved when he laid down. He reported asthenia and cramps. He presented a typical BASCULE syndrome associated with POTS confirmed by a tilt-test. Physical and vascular examinations were within the normal range. We identified 12 case reports, describing 21 pediatric cases since 2016. Most patients were adolescents between 12 and 19 years of age or were newborns. Furthermore, 20% of cases in the literature have presented POTS or orthostatic intolerance. Our survey among 95 French physicians confirmed that BASCULE syndrome is an underdiagnosed and under recognized disease in the general pediatric practice, at least in France. Among these physicians, 65% had already encountered patients with similar symptoms, but only 30% declared that they had knowledge of the BASCULE syndrome.ConclusionThe under-recognition of the clinical manifestations leads the patients to consult emergency rooms, with multiple unnecessary investigations performed. Therefore, we suggest that the diagnosis of BASCULE syndrome is based on clinical observations, without the need for laboratory tests, to avoid unnecessary health costs. We suggest physicians to perform a tilt-test when POTS is suspected.

Bridging the gap in BASCULE syndrome: A retrospective case series of a recently described clinical entity

“…Referral diagnoses included erythromelalgia, orthostatic acrocyanosis, livedo reticularis, and dysautonomia. Reported sensory symptoms were pruritus (8), and burning sensation or pain (8), or no symptoms (3). Episode triggers were standing (11), showers or hot environments (7).…”

“…18 The results of our study further strengthen an association with autonomic dysfunction, as 10 of 17 (59%) of patients were diagnosed with autonomic dysfunction based off supportive history of chronic OI with quantitative abnormalities in ARS, higher than the 20% that has previously been reported. 8 An elevated association with autonomic dysfunction could be attributed to the high number of patients presenting to Mayo Clinic as a multi-specialty referral center with autonomic concerns, as well as high awareness by providers of the symptoms of BASCULE syndrome.…”

“…The limitations of antihistamine treatment should be noted however, as prior studies show mixed efficacy. 1,4,[7][8][9] Successful treatment with short-acting propranolol was incidentally identified in three patients whose prescription had been directed primarily toward autonomic dysfunction.…”

“…Reports of successful treatment are limited. High‐dose bilastine, a selective H1‐antagonist, has been reported as helpful for pruritus 7,8 and even led to complete resolution of cutaneous symptoms 9 . Although some reports of aspirin or low‐dose antihistamines are successful, 1 many have found these to be ineffective 1,4,9 .…”

“…Currently, there is a paucity of published information on BASCULE syndrome, which is likely underdiagnosed. 1,10,11 A recent literature review identified 21 pediatric cases reported since 2016, 8 Regarding the diagnosis of autonomic dysfunction by ARS, it can be noted that the pediatric and adolescent population is more susceptible to tilt table testing than adults, with varied reports of abnormalities among asymptomatic normal controls. 12,13 For this reason, increased heart rate criteria for POTS (rise in heart rate > 40 bpm within 10 min of head up on tilt table testing, compared with 30 bpm for adults >19) and orthostatic intolerance (OI) were proposed in 2012, 12 and ultimately adopted by the Heart Rhythm Society in 2015.…”