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Crisponi Syndrome

CISS


Presentation

  • CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. A 30-year-old man sought treatment for profuse sweating.[ncbi.nlm.nih.gov]
  • We present a 15-month-old girl who required anesthetic care during laparoscopic fundoplication and gastric tube insertion. The perioperative implications of the disorder are reviewed and suggestions for anesthetic management provided.[ncbi.nlm.nih.gov]
  • Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome.[ncbi.nlm.nih.gov]
  • Here, we present a newborn diagnosed with Crisponi syndrome and report a novel homozygous CFRL1 gene mutation.[ncbi.nlm.nih.gov]
  • The case of a patient presenting with Crisponi syndrome recently hospitalized at our institution is described.[ncbi.nlm.nih.gov]
Heat Intolerance
  • This condition creates heat intolerance in many patients, and puts them at risk of overheating in warm or hot weather. Excessive sweating can be unpleasant in cool weather and may create chills.[forgottendiseases.org]
Bradypnea
  • Polysomnographyduring these attacks showed an obstructive breathing patternwith a relative bradypnea, severe decrease of TcPO2 of 7.0 kPa,mild increaseofTcCO2of1.52.0kPa,andaseveredrop inSpO2as low as 60%.[documents.tips]
Cyanosis
  • Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying.[orpha.net]
  • Patients frequently suffer with muscle hypertonia , and early in the neonatal period, continuous hyperthermia (unrelated to infectious agents), spells of apnea, dyspnea (shortness of breath), and cyanosis during crying are observed.[xpertdox.com]
  • Common clinical features of Crisponi syndrome Medical problems Camptodactyly (permanent bending of one or more fingers; see photo below) Spinal curvature abnormalities (scoliosis, kyphosis, or both) Intellectual disability (in less than half of patients) Cyanosis[forgottendiseases.org]
  • Jerky movements were noted,especially of the legs.Duringanattack respirationwas initiallysuperficial, followed by tachypnea and apnea, cyanosis, and adecrease in oxygen saturation.[documents.tips]
Blepharospasm
  • […] have a characteristic facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm[forgottendiseases.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]
Confusion
  • As a recently described new disease, Crisponi syndrome may be confused with epileptic manifestations. Most of the patients die in the first months of life due to hyperthermia and feeding problems.[ncbi.nlm.nih.gov]

Treatment

  • A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations.[ncbi.nlm.nih.gov]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • 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]
  • Treatment - Crisponi syndrome Not supplied. Resources - Crisponi syndrome Not supplied.[checkorphan.org]

Prognosis

  • Prognosis - Crisponi syndrome Not supplied. Treatment - Crisponi syndrome Not supplied. Resources - Crisponi syndrome Not supplied.[checkorphan.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]

Etiology

  • Etiology Crisponi syndrome is caused by mutations in the CRLF1 gene (MIM.604237) allelic to cold-induced sweating syndrome type 1 (MIM.272430) References Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker[humpath.com]
  • 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]
  • No other clue forthe etiology is present. The small head circumference in themother of the present patient is probably coincidental: noneof the Sardinian mothers was microcephalic [G. Crisponi,personal communication, 2001].[documents.tips]
  • Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology. Orphanet Journal of Rare Diseases. 2014;9:34. Accessed Feb. 5, 2018. Crisponi Syndrome. Orphanet. Last update: June 2008.[rarediseases.org]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Prevention - Crisponi syndrome Not supplied. Diagnosis - Crisponi syndrome The phrase \"signs of Crisponi syndrome\" should, strictly speaking, refer only to those signs and symptoms of Crisponi syndrome that are not readily apparent to the patient.[checkorphan.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]
  • It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov.[rarediseases.org]

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