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Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature and prevents a person from sweating. Cognitive disorders are commonly coincidental.
Marsili syndrome is an extremely rare genetic disorder which is characterized by symptoms similar to those reported on individuals with congenital insensitivity to pain with anhidrosis. It can be fatal if it goes unnoticed/undiagnosed.
Type 4, congenital insensitivity to pain with anhidrosis (CIPA), is an autosomal recessive condition and affected infants present with episodes of hyperthermia unrelated to environmental temperature, anhidrosis and insensitivity to pain. Palmar skin is thickened and charcot joints are commonly present.
A patient and doctor discuss congenital insensitivity to pain. For people with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature [3]), and there are generally no detectable physical abnormalities.
The diagnostic criteria for acquired idiopathic generalized anhidrosis is as follows: [6] Despite the widespread distribution of idiopathic anhidrosis or hypohidrosis lesions in a non-segmental spinal pattern, no additional neurological or autonomic symptoms are noted. [6] At least 25% of the body is affected by anhidrotic or hypohidrotic regions.
FD results in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia , problems with speech and movement, difficulty swallowing , and inappropriate perception of heat, pain and ...
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The signs and symptoms occur on the same side (ipsilateral) as it is a lesion of the sympathetic trunk. It is characterized by miosis (a constricted pupil), partial ptosis (a weak, droopy eyelid), apparent anhidrosis (decreased sweating), with apparent enophthalmos (inset eyeball). [2]