[MIM 601 378]

(Sohar-Crisponi syndrome, )

Very rare. Described in several families in Italy, Spain, Turkey and Saudi Arabia. Autosomal recessive transmission of mutations in the CRLF1 gene (cytokine receptor-like factor 1) on 19p13.1-p12. This gene is allelic with  the Sohar syndrome or the cold-induced sweating syndrome [MIM 272 430] which can also be caused by mutations in the CLCF1 gene coding for the cardiolipin-like cytokine. The CRLF1 gene plays an important role in the survival of motor neurons and in certain functions of the autonomic nervous system (temperature, sweating, muscle spasms).

At birth: 

-         muscle contractions, especially at the level of the face, in response to weak tactile stimulation (similar to the clinical picture of neonatal tetanus); contractions of the oropharyngeal muscles causing feeding difficulties (excessive salivation, absence of swallowing reflex) and respiratory problems (central apnea and dyspnea, cyanosis during crying in the newborn and infant) requiring a feeding tube or a gastrostomy

-         hyperthermia without infectious signs: these are less frequent after the first year of life

-         particular facies: wide face, broad nose with long philtrum, anteverted nares, full cheeks. micrognathia

-         bilateral camptodactyly.

Frequent deaths from hyperthermia during the first months of life. In case of survival, the crises of fever and feeding difficulties decrease during the second year of life.

In childhood and adolescence: access of paradoxical sweating after exposure to cold temperatures (below 18 to 22 ° C): these crises are associated with a massive increase in plasma noradrenaline levels and treatment with clonidine (3 µg/kg/day) or moxonidine (6 µg/kg/day) (an another central agonist of the midazoline type 1 receptor) seems effective; progressive kyphoscoliosis.

Anesthetic implications: 

avoid hyperthermia in infancy: postoperative hyperthermia ++; avoid exposure to a fresh temperature in childhood (bouts of sweating): premedication with clonidine is useful at that age.

Risk of difficult intubation and aspiration in early childhood; the kyphoscoliosis can make a neuraxial block, difficult.

References : 

-          El-Assy OS, Al-Sulaimani AA, Mujahed AA. 
Crisponi syndrome: a new mutation in a Saudi family. 
Saudi J Health Sciences 2012; 1: 103-6

-         Herholz J, Crisponi L, Mallick BN. 
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 
Developmental Med and Child Neurol 2010; 52: 494-7

Updated: September 2019