Worldwide, there are fewer than 100 reported cases and we present the second Indian patient with a CRLF1 genetic mutation [1-4]. [indianpediatrics.net]

Abnormal central control of respiration may be present at birth, increasing the risk of sudden death. Febrile episodes disappear after the first year of life, whereas feeding difficulties persist. [orpha.net]

[…] investigate the ability of ultrasonography to estimate muscle activity, we measured architectural parameters (pennation angles… Human scalp EEG studies have shown that event-related desynchronization (ERD) in the alpha (8-13 Hz) and beta (15-25 Hz) bands… The present [semanticscholar.org]

The patient we are presenting had small ectopic nonfunctioning right kidney in the association with CISS. [hindawi.com]

Neonates present sucking difficulties requiring feeding via nasogastric tube. [scielo.br]

• Feeding Difficulties

  Marked feeding difficulties require nasogastric tube feeding. Prognosis Characteristic hyperthermic crises frequently lead to death within the first months of life. [orpha.net]

  Baby was always having great feeding difficulties, not sucking, or swallowing and kept always on nasogastric tube feeding. [saudijhealthsci.org]

  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 [portal.findresearcher.sdu.dk]

  Associated physical and constitutional findings include characteristic facial anomalies, camptodactyly, intermittent hyperthermia, and feeding difficulties. [unboundmedicine.com]

  In infancy, she did not show paroxysmal muscular contractions, but showed feeding difficulty, hyperthermia, and facial characteristics including thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip, and [pesquisa.bvsalud.org]

• Nasal Voice

  Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. [uniprot.org]

  They also had some additional abnormalities, in clud in g a high-arched palate, nasal voice, depressed nasal bridge, in ability to fully extend the ir elbows, and kyphoscoliosis. [yumpu.com]

  Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. [orpha.net]

• Facial Spasm

  Life expectancy is probably normal. [7] Summary The manifestations of Crispony syndrome at birth is mimicking neonatal tetanus, with frequent facial spasms and trismus. [saudijhealthsci.org]

• Short Neck

  neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing of the eyelids) Flat or depressed nasal bridge Highly arched palate Long philtrum (groove below nose) Two types of Crisponi syndrome/CISS have been described [forgottendiseases.org]

• Generalized Seizure

  Crying spells can be associated with apnea and cyanosis, and they also experience unexplained episodes of high fever reaching up to 42ºC followed by periods of restlessness, continuous crying, or trismus; generalized seizures are possible. [scielo.br]

  But death may occur in the first few months because of hyperthermic crisis and generalized seizures. [saudijhealthsci.org]

Growth delay, developmental delay, decrease pain sensation, and hyperintense lesions in the subcortical white matter on the brain MRI were reported with some of the patients, basic hematologic and biochemical workup usually does not show any abnormalities [hindawi.com]

Workup was done and he was referred to genetics. [jcnonweb.com]

Pregnancy management : Pharmacologic treatments for cold-induced sweating should be discontinued during pregnancy, as teratogenic effects on the fetus have not been well studied and remain a possibility. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Crisponi/cold induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. Clin Genet. 2020;97:209-21. 5. Crisponi G. [indianpediatrics.net]

Four new cases. 24 Hahn AF...Boman H 20400119 2010 15 Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 24 Herholz J...Rutsch F 20187881 2010 16 Stüve-Wiedemann syndrome: long-term follow-up and genetic [malacards.org]

Prognosis Characteristic hyperthermic crises frequently lead to death within the first months of life. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Primary focal hyperhidrosis usually runs a chronic course, although a small number of people spontaneously improve after the age of about 25 years. [ 1 ] [patient.info]

Etiology Mutations in the CRLF1 gene are causative. Differential diagnosis CS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms). [orpha.net]

Applicable To Excessive sweating Night sweats Secondary hyperhidrosis Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]

General pathology > Genetic and developmental anomalies > cold-induced sweating syndrome Etiology CISS1 (MIM.272430) at 19p12: mutations in the CRLF1 gene ( 12509788 ) CISS2 (MIM.610313) at 11q13 .3: mutation in the CLCF1 gene (MIM.607672). [humpath.com]

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet Journal of Rare Diseases. 2014;9:34. https://doi.org/10.1186/1750-1172-9-34 Accessed Feb. 5, 2018. Crisponi Syndrome. Orphanet. [rarediseases.org]

[…] data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death [csbg.cnb.csic.es]

Summary Epidemiology Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. [orpha.net]

Epidemiology of hyperhidrosis in 2 population-based health care databases. J Am Acad Dermatol. 2018 Feb. 78 (2):358-362. [Medline]. Adar R, Kurchin A, Zweig A, Mozes M. Palmar hyperhidrosis and its surgical treatment: a report of 100 cases. [emedicine.medscape.com]

Epidemiology of injuries in northern areas. Arctic Med Res 51:5–14. Mills, WJ. 1991. Cold injury. Alaska Med 35:1. Morton, WE and JWS Hearle. 1975. Physical Properties of Textile Fibres. London: Heinemann. Newburgh, LH (ed.). 1949. [ilocis.org]

Its pathophysiology was only understood later. Crisponi syndrome falls under the umbrella of CNTF receptor-related disorders due to a mutation in the soluble cytokine receptor CRLF1.44 Crisponi L, Crisponi G, Meloni A, et al. [scielo.br]

The purpose of this book is to present a focused approach to the pathophysiology, diagnosis, and management of the most common autonomic disorders that may present to the clinical neurologist. Autonomic Neurology is divided into 3 sections. [books.google.de]

The pathophysiology of hypothermia. In International Reviews of Ergonomics, edited by DJ Oborne. New York:Taylor & Francis. 201–218. Middaugh, J. 1992. Epidemiology of injuries in northern areas. Arctic Med Res 51:5–14. Mills, WJ. 1991. Cold injury. [ilocis.org]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Further, the role of genetic diagnosis for genetic counselling and preventing recurrence of the disease in the family cannot be over emphasized. REFERENCES 1. Piras R, Chiappe F, Torraca IL, et al. [indianpediatrics.net]

It can be prevented by addition of salt to the diet (drinking beer was a suggested preventive measure in the UK in the 1920s!). Similarly, physiological mechanisms control the electrolyte composition of the body fluids via processes in the kidneys. [ilocis.org]

This might include prevention of choking while eating via a tube that connects the nose to the stomach for feeding (nasogastric tube), prevention of inhaling food on accident (lung aspiration), or physiotherapy and/or surgery to correct bone malformations [rarediseases.org]