Article

Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases

Department of Clinical Neurological Sciences, London Health Sciences Centre, University of Western Ontario, London, Ontario, Canada.
Journal of the neurological sciences (Impact Factor: 2.47). 06/2010; 293(1-2):68-75. DOI: 10.1016/j.jns.2010.02.028
Source: PubMed

ABSTRACT

Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions results in CISS1 and CISS2, respectively. So far, only a single patient with CISS2 has been reported. Here we describe four new cases of CISS, two additional patients with CISS2 (confirming locus heterogeneity) and two patients with CISS1. Their case histories are given in detail to emphasize the striking similarity of their presentation, which makes a clinical differentiation impossible. All four cases had a uniform presentation in the neonatal period, much like Crisponi syndrome - inability to suckle and swallow due to facial and bulbar weakness; excessive startle and trismus-like facial contractions when crying or being handled; apnoeic spells; episodic unexplained fevers (up to 41 degrees C) and associated seizures or even sudden death; erythematous skin rashes; and camptodactyly. Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. Signs abate during infancy and most children have a normal psychomotor development. During the first decade all children develop scoliosis and abnormal sweating which is the most disabling symptom in adulthood. We report that cold-induced sweating can be effectively treated. Detailed clinical observations, correlated with the findings from basic science research, may serve to elucidate the role(s) of this important cytokine complex in embryonic and postnatal development.

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    • "The pathogenesis of CCS is believed to be secondary to impaired signaling through the Leukemia Inhibitory Factor Receptor LIFR/ gp130 receptor by the Cardiotrophin-Like Cytokine Factor; CRLF1/CLCF1 heterodimer Hahn and Boman[2013]. Interestingly , this model is consistent with the virtually identical phenotype caused by mutations in CLCF1 and its chaperone CRLF1, even though only three cases of the former have been reported to date[Hahn et al., , 2010Rousseau et al., 2006]. Similarly, mutations in LIFR cause a highly similar phenotype known as the Stuve– Wiedemann syndrome (MIM#601559), an important differential diagnosis that can be distinguished from CCS by the presence of bowed bones and additional autonomic dysfunctions(e.g., poor corneal reflex) (personal observation)[Dagoneau et al., 2004]. "
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    ABSTRACT: Crisponi/CISS1 syndrome (MIM#272430) is a rare autosomal recessive disease characterized by major feeding difficulties, camptodactyly, and anhidrosis in early childhood; and the subsequent development of paradoxical cold-induced sweating and scoliosis later in life. The syndrome is caused by biallelic mutations in CRLF1 or, much less commonly, CLCF1. Although genotype/phenotype correlation has been elusive, it has been suggested that the level of the mutant protein may correlate with the phenotypic severity. However, we show in this series of 12 patients from four families, all previously unpublished, that the homogeneity of the recently described c.983dupG (p.Ser328Argfs∗2) mutation in CRLF1 was associated with a highly variable degree of severity, and that the phenotype significantly overlaps with the recently described COG6-related anhidrosis syndrome (MIM#615328). Another fifth previously unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features.
    No preview · Article · Jan 2016 · American Journal of Medical Genetics Part A
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    • "Very rarely, there is a report of cold induced sweating in PAF [7]. PAF is a sporadic neurodegenerative disorder characterized by slowly progressive severe autonomic dysfunction while CISS is an autosomal recessive disease that is related with mutations of the CRLF1 receptor gene with typical dysmorphic features [7,8]. PAF is a slowly progressive disease and orthostatic hypotension usually occurs as an early symptom. "

    Preview · Article · Oct 2015
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    • "In this area, other cases have been described in Libya [Herholz et al., 2011] and Israel [Knappskog et al., 2003; this report]. Other CS/CISS1 patients have been identified in Eastern countries, in particular in India [Thomas et al., 2008], Pakistan [this report], Yemen [Dagoneau et al., 2007], Saudi Arabia [this report], and Japan [Yamazaki et al., 2010], whereas in the Western states, 1 patient has been identified in Canada [Hahn et al., 2006], 1 in Australia [this report], and 1 in USA [Hahn et al., 2010]. "
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    ABSTRACT: 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 catalogue 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. This article is protected by copyright. All rights reserved.
    Full-text · Article · Feb 2014 · Human Mutation
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