period

Dysmorphic facial features

100%

Poor suck swallow, micrognathia, restricted jaw movements

100%

—

Excessive startling when crying, being handled, or w/loud noises

90%

Assoc w/an opisthotonos-like posture, tightly pursed lips, excessive foamy salivation

Facial-oral-laryngospasms assoc w/respiratory distress

~60%

Assoc w/startle

Bouts of hyperthermia

90%

Isolated temperature spikes up to 42C (108 F) w/o infections

Camptodactyly /or flexion deformity at elbows

80%

—

Misshapen feet, overriding toes

~50%

—

Scaly erythematous skin rash

~20%

Childhood/

Adulthood

Gradual improvement of swallowing feeding by end of 1st yr

~100%

Persistent lower facial weakness

~90%

—

Impaired thermoregulation

100%

—

Paradoxic cold-induced sweating

100%

—

Heat intolerance

100%

—

Progressive thoracolumbar kyphoscoliosis

90%

Typical dysmorphic features are noted at birth and are accompanied by an inability to suckle and swallow due to facial and bulbar weakness and the presence of micrognathia and restricted jaw movements.

environment

Evaluate for ways to keep infant in quiet calm environment w/temperature control (20 C).

Careful handling is essential to avoid excessive startling spasm; infants are typically irritable.

—

Respiratory status

Oxygen saturation test

—

—

Hydration status

Physical exam electrolyte testing

Infants w/CISS/CS may be dehydrated at presentation/diagnosis. Safety of oral feeding

Swallowing test; Esophageal manometry

Neurologic status

Assessment by neurologist

EEG if seizures observed

Seizures occur in response to hyperthermia, not as a primary disorder. Reduced corneal

sensitivity

Assessment by ophthalmologist for corneal injury

Flexion contractures

—

of fingers elbows

Assessment by PT or OT

In childhood or adulthood

—

Neurologic status

Assessment by neurologist

Impaired

—

thermoregulation1

Review symptoms w/patient family.

Normally noted by parents but not a concern until early teens

—

Scoliosis

Assess spine w/radiographs exam.

—

—

Genetic counseling

By genetics professionals2

To inform patients families re nature, MOI, implications of CISS/CS in order to facilitate medical personal decision making Family support resources

Assess:; Use of community or such as Parent to Parent;; Need for social work involvement for parental support;; Need for home nursing referral.

Treatment of Manifestations in Individuals with Cold-Induced Sweating Syndrome / Crisponi Syndrome (CISS/CS) Manifestation/Concern

Treatment

Considerations/Other Laryngospasm

—

w/respiratory distress

Provide for supplemental oxygen w/o delay.

An apnea monitor is recommended. Bouts of hyperthermia

—

(≤42 C [108 F])

Cooling blankets

Temperature-reducing medications are not effective.

—

Seizures

Anti-seizure medication for acute episodes

Long-term seizure medication past the infantile period will seldom be necessary as seizures are symptomatic of hyperthermia, not due to a primary seizure disorder. Feeding difficulty in

—

infancy

NG or gastrostomy tube feeding until disorganized swallowing esophageal dysmotility improve over 1st year of life

Manage gastroesophageal reflux pharmacologically.

—

Camptodactyly

Bracing PT/OT

Plastic surgery may be considered at a later stage. Thoracolumbar

—

scoliosis

Prolonged bracing or surgical correction depending on rapidity of progression

—

—

Corneal injury

Topical lubrication w/artificial tears at daytime, lubricating gels at night

For severe corneal injury, tarsorrhaphy can be considered.

—

Dental decay

Regular dental visits

W/focus on prevention of early dental decay Paradoxic cold induced sweating in older children adults

See .