Successful treatment of cold‐induced sweating in Crisponi syndrome and its possible mechanism of action

Herholz, Jana; Crisponi, Laura; Mallick, Birendra Nath; Rutsch, Frank

doi:10.1111/j.1469-8749.2010.03630.x

Cited by 15 publications

(17 citation statements)

References 16 publications

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“…Surgical intervention or prolonged bracing may be required to treat the progressive thoracolumbar kyphoscoliosis. Sweating triggered by cold or apprehension can be effectively treated with clonidine/amitriptyline or moxonidine [Hahn et al., , ; Herholz et al., ]. Heat exposure and prolonged physical activity in a hot climate are to be avoided.…”

Section: Management and Diagnostic Strategiesmentioning

confidence: 99%

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

et al. 2014

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Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date, 24 distinct CRLF1 mutations have been found either in homozygosity or in compound heterozygosity in CS/CISS1 patients, with the highest prevalence in Sardinia, Turkey, and Spain. By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them. To catalog all the 35 mutations, we created a CRLF1 mutations database, based on the Leiden Open (source) Variation Database (LOVD) system (https://grenada.lumc.nl/LOVD2/mendelian_genes/variants). Overall, the available functional and clinical data support the fact that both syndromes actually represent manifestations of the same autosomal-recessive disorder caused by mutations in the CRLF1 gene. Therefore, we propose to rename the two overlapping entities with the broader term of Crisponi/CISS1 syndrome.

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Section: Management and Diagnostic Strategiesmentioning

confidence: 99%

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

et al. 2014

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“…Central malformations and intracranial hemorrhages, or congenital pathologies such as the Crisponi syndrome, 30 are rare causes of newborn hyperthermia.…”

Section: Neonatal Hyperthermiamentioning

confidence: 99%

Thermal protection of the newborn in resource-limited environments

2012

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Appropriate thermal protection of the newborn prevents hypothermia and its associated burden of morbidity and mortality. Yet, current global birth practices tend to not adequately address this challenge. Here, we discuss the pathophysiology of hypothermia in the newborn, its prevention and therapeutic options with particular attention to resource-limited environments. Newborns are equipped with sophisticated mechanisms of body temperature regulation. Neonatal thermoregulation is a critical function for newborn survival, regulated in the hypothalamus and mediated by endocrine pathways. Hypothermia activates cellular metabolism through shivering and nonshivering thermogenesis. In newborns, optimal temperature ranges are narrow and thermoregulatory mechanisms easily overwhelmed, particularly in premature and low-birth weight infants. Hyperthermia most commonly is associated with dehydration and potentially sepsis. The lack of thermal protection promptly leads to hypothermia, which is associated with detrimental metabolic and other pathophysiological processes. Simple thermal protection strategies are feasible at community and institutional levels in resource-limited environments. Appropriate interventions include skin-to-skin care, breastfeeding and protective clothing or devices. Due to poor provider training and limited awareness of the problem, appropriate thermal care of the newborn is often neglected in many settings. Education and appropriate devices might foster improved hypothermia management through mothers, birth attendants and health care workers. Integration of relatively simple thermal protection interventions into existing mother and child health programs can effectively prevent newborn hypothermia even in resource-limited environments.

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“…10 Further, patients 7 and 8, originally classified as CS patients, responded to a-adrenergic agents with regard to paradoxical sweating. 21 Diagnostic studies such as electroencephalogram, cranial computed tomography, muscle biopsy and nerve conduction velocity were carried out in several cases mostly showing normal results (Supplementary Table 2). Most of the initial symptoms resolved after the first 1 or 2 years of life.…”

Section: Clinical Features Of Patients Classified With Crisponi Syndrmentioning

confidence: 99%

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

et al. 2011

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Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.

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Successful treatment of cold‐induced sweating in Crisponi syndrome and its possible mechanism of action

Cited by 15 publications

References 16 publications

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

Expanding the Mutational Spectrum ofCRLF1in Crisponi/CISS1 Syndrome

Thermal protection of the newborn in resource-limited environments

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

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