Seventeen-year-old David suffers from CIPA (congenital insensitivity to pain with anhidrosis
), a rare disorder that does not allow him to sweat, sense temperature, or feel pain.
Clinical features of this syndrome include ptosis, miosis, and anhidrosis
. Ptosis refers to a moderate drop of the upper eyelid.
Early and progressive clinical symptoms include acroparesthesias, anhidrosis
or hypohidrosis, angiokeratomas, gastrointestinal problems, and corneal dystrophy.
([double dagger]) Includes Arnold-Chiari malformation, Asperger's syndrome, autistic-like behavior with scoliosis, congenital encephalopathy, congenitial insensitivity to pain with anhidrosis
(HS AN type IV), Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, hypothalamic glioma status post resection, Marian's syndrome, muscular dystrophy, Noonan syndrome, paraplegia secondary to spinal cord tumor resection, polio, Prader-Willi syndrome, Rett syndrome, seizure disorder, spina bifida, spinal muscular atrophy type 2, syndromic scoliosis, unspecified neuromuscular disorder, and VATER.
Classic signs of Horner syndrome in mammals are miosis and ptosis, with or without concurrent anhidrosis
, iris heterochromia, and pupillary dilation lag.
(4) Primary tumors in the neck or upper chest can cause Horner syndrome (ptosis, miosis, anhidrosis
) or airway compromise.
Dentro de ellos, se encuentran: presencia de dolor lumbar, alteraciones sensoriales, sintomas motores variados, fatiga (hasta debilidad en casos severos), alteracion de los reflejos miotendinosos, disfuncion esfinteriana (aunque puede no estar presente, dependiendo del lugar de ubicacion de la lesion), disfuncion autonomica como anhidrosis
o cambios cutaneos troficos de la piel (15).
Specific treatment for dehydration/sub-hydration, constipation, anhidrosis
(poor or lack of sweating) and shallow breathing is critical.
Congenital insensitivity to pain with anhidrosis
(CIPA) is a rare autosomal recessive disease that is characterized by unexplained fever, anhidrosis
, and loss of pain sensation [1, 2].
Multiple studies have demonstrated that ERT effectively reduces Gb3 accumulation, improves anhidrosis
, peripheral nerve function, gastrointestinal symptoms, and acroparesthesias, and can stabilize kidney function [8-12].
Hot, humid environment with direct solar radiation and little wind movement Insulated clothing Low ratio of skin surface area to body mass Recent (1-3 days) stressful heat exposure Lack of heat acclimatization Medications that alter sweat gland function, cutaneous vasoconstriction, or cardiac contractility Skin disorders (e.g., ectodermal dysplasia, burns, anhidrosis
) Strenuous or prolonged exercise Overweight, obesity Dehydration Diarrhea, vomiting Use of diuretics and laxatives Fever and illness Infectious disease Low cardiorespiratory physical fitness Alcohol abuse or drug use Older age Sleep deprivation Sources.