Results 141 to 150 of about 1,205 (182)

Neurophysiologic studies in congenital insensitivity to pain with anhidrosis

Pediatric Neurology, 2001
Thirteen patients with congenital insensitivity to pain and anhidrosis, carrying a mutation at the TRK-A gene, were studied. Neurologic examination revealed vestigial pain sensitivity, suggesting an incomplete involvement of the affected nerves. All 13 patients manifested normal electrophysiologic studies but striking absence of sympathetic skin ...
Z, Shorer, S W, Moses, E, Hershkovitz, V, Pinsk, J, Levy   +4 more
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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
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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
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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
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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
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Congenital insensitivity to pain with anhidrosis

Journal of Pediatric Orthopaedics B, 2013
Congenital insensitivity to pain with anhidrosis is a type IV hereditary sensory and autonomic neuropathy, presenting early in life. This disorder results from defective neural crest differentiation with loss of the first-order afferent system, which is responsible for sensations of pain and temperature; a neuronal loss in the sympathetic ganglia is ...
Ilias, Kosmidis, Panagiotis, Krallis, Damiani, Tsiamasfirou, Konstantinos, Filiopoulos   +3 more
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Anaesthetic management of children with congenital insensitivity to pain with anhidrosis

Pediatric Anesthesia, 2000
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare sensory neuropathy, which affects patients’ pain sensation and thermoregulation. There are several issues to consider when planning anaesthesia for those with this congenital disorder.
K, Okuda, T, Arai, T, Miwa, K, Hiroki
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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 syndrome: A series from Jordan

Clinical Neurology and Neurosurgery, 2020
To present the clinical picture, the associated complications and the genetic findings of Jordanian patients diagnosed with Congenital insensitivity to pain with anhidrosis (CIPA).This is a retrospective study including 7 patients diagnosed with CIPA presenting to Jordan University Hospital neurology clinic between 2001 and 2017.Among five families ...
Amira Masri, Mohammad Shboul, Aisha Khasawneh, Rama Jadallah, Asma ALmustafa, Nathalie Escande-Beillard, Hanan Hamamy, Faris Bakri, Bruno Reversade   +8 more
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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