Results 131 to 140 of about 96,208,754 (165)

Ocular Manifestations of Congenital Insensitivity to Pain With Anhidrosis

American Journal of Ophthalmology, 2006
To describe ocular manifestations in Japanese patients with congenital insensitivity to pain with anhidrosis (CIPA), focusing particularly on the status of the ocular surface.Observational case series.Eighteen patients with CIPA underwent applicable ophthalmologic examinations, including visual acuity, refraction, slit-lamp examination, fundus ...
Shiro, Amano, Shima, Fukuoka, Tomohiko, Usui, Norihiko, Honda, Ryuichi, Ideta, Makiko, Ochiai, Satoru, Yamagami, Makoto, Araie, Yutaka, Awaya   +8 more
openaire   +2 more sources

Congenital insensitivity to pain with anhidrosis.

Cutis, 1993
Congenital insensitivity to pain with anhidrosis is a rare disorder. Its primary clinical features include congenital analgesia, which leads to self-mutilation; inability to sweat, which leads to defective thermoregulation; and mental retardation. A five-year-old boy with consanguineous parents and no family history of the disorder presented with ...
N, Ozbarlas, F, Sarikayalar, G, Kale
openaire   +1 more source

Congenital insensitivity to pain with anhidrosis: a case report

European Journal of Anaesthesiology
Although it is very rare, the syndrome of Congenital Insensitivity to Pain with Anhidrosis (CIPA) should be known to anaesthetic practitioners due to its perioperative implications. We report the first case of this in the British Isles, in a 5-year-old girl, whose osteomyelitis required surgical intervention.
Natalie Lenggenhager-Krakoski, Anne Coakley, Hassan Murtaza, Brian O’Brien   +3 more
openaire   +2 more sources

A rare case of congenital insensitivity to pain with anhidrosis

Paediatrics and International Child Health
A 22-month-old girl of consanguineous parents was admitted with a high-grade fever. She was found to have insensitivity to painful stimuli and an absence of perspiration. She also displayed self-mutilating behaviour and was insensitive to cold/hot water on her body.
Vaishnavi Sreenivasan, Pediredla Karunakar, Sravani Madhileti, Jaikumar Govindaswamy Ramamoorthy, Reena Gulati   +4 more
openaire   +2 more sources

Congenital Insensitivity to Pain with Anhidrosis Presenting with Palmoplantar Keratoderma

Pediatric Dermatology, 2012
Abstract:  Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal‐recessive disease caused by mutations in the NTRK1 gene. The disease is characterized by insensitivity to pain and absence of thermal perception. Herein a 6‐year‐old boy is presented with a large ulcer on the sole of his right foot and a thick, hyperkeratotic ...
Shirin, Sayyahfar, Zahra, Chavoshzadeh, Mojdeh, Khaledi, Firooz, Madadi, Mehrnoosh Hassas, Yeganeh, Daisuke, Sawamura, Hajime, Nakano, Nima, Rezaei   +7 more
openaire   +2 more sources

Congenital insensitivity to pain with anhidrosis.

Cutis, 1997
Congenital insensitivity to pain with anhidrosis is one of a group of rare diseases termed hereditary sensory-motor neuropathies. Primary clinical features of this entity include congenital analgesia, inability to sweat, and mental retardation. Besides the rarity of these clinical entities, difficulty in evaluating the sensory disturbances, especially ...
D, Aslan, F, Sarikayalar
openaire   +1 more source

The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis

Pediatric Anesthesia, 2004
SummaryBackground : Congenital insensitivity to pain with anhidrosis (CIPA, or hereditary sensory and autonomic neuropathy type IV) is a rare, autosomal recessive disease, related to a mutation in the TrkA gene, characterized by inability to sweat, insensitivity to pain and recurrent episodes of hyperpyrexia. There are two Bedouin tribes in Israel with
V, Rozentsveig, A, Katz, N, Weksler, A, Schwartz, M, Schilly, M, Klein, G M, Gurman   +6 more
openaire   +2 more sources

Spinal Anesthesia in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Anesthesia & Analgesia, 2007
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, hereditary, autonomic recessive disorder. The inability to perceive pain results from loss of nociceptive afferents, while anhidrosis is caused by loss of innervation to the sweat glands.
Carlos R D, Oliveira, Fúlvio A, dos Santos, Celso S, Nogueira, Emerson J, Mainardes   +3 more
openaire   +2 more sources

First instance of pain in congenital pain insensitivity with anhidrosis

Clinical Neurology and Neurosurgery
This case of congenital insensitivity to pain with anhidrosis with a mutation in the NTRK1 gene from Palestine, sheds light on the variability of the disease. The patient's atypical symptoms including blindness, multiple amputations, and a recent spinal abscess causing tenderness provide new perspectives on the wide array of manifestations of this rare
Malek N. Itmaiza, Adriana J. Skafi, Alaa A. Adawi, Peter R. Bael, Nouraldin M. Ibaidi   +4 more
openaire   +2 more sources

Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations

American Journal of Ophthalmology, 1999
To report the incidence and severity of the ophthalmologic manifestations in patients with congenital insensitivity to pain with anhidrosis.Fifteen Bedouin children with congenital insensitivity to pain with anhidrosis underwent complete ocular examination, including refraction and assessment of corneal sensation, and a detailed neurologic examination,
R, Yagev, J, Levy, Z, Shorer, T, Lifshitz   +3 more
openaire   +2 more sources