Hereditary Sensory Neuropathy Type 2 (Congenital sensory neuropathy): A case report

1977 ◽  
Vol 12 (3) ◽  
pp. 499
Author(s):  
Han Koo Lee ◽  
Woong Saeng Limb ◽  
Byoung Wan Ahn
2016 ◽  
Vol 6 (1) ◽  
pp. 9
Author(s):  
Ebru Saribas ◽  
Filiz Acun Kaya ◽  
Arzum Guler Dogru ◽  
Mehmet Ufuk Aluclu

Aim: Hereditary sensory and autonomic neuropathy (HSAN) is a rare syndrome of unknown etiology that develops in early childhood. Five different types of HSAN have been described. This syndrome is characterized by the absence of pain and self-mutilation. Patients start to traumatize themselves at as young as 2–3 years of age. Subsequently, ulcers and stress fractures develop on their fingers and toes. Oral findings in HSAN patients include oral lesions after repetitive trauma, oral mucosa and tongue scars, self-dental extractions, dental infections, and premature tooth loss. Methodology: This case report presents the oral findings of a 4-year-old HSAN patient with premature tooth loss who visited Dicle University, Faculty of Dentistry, Department of Periodontology. The extraoral examination showed wounds around the nose and bruises and burns on the forearms and legs. The intraoral inspection showed traumatic lesions on the tongue, early loss of all of the lower jaw primary dentition, but the presence of upper jaw teeth. Results: During follow-up, the eruption of the permanent right lower incisors and presence of mobility were observed. A partial child prosthesis for the lower jaw and protective plaque restoration constructions were planned. The patient is being followed regularly. Conclusions: It is necessary to conduct regular checkups and to ensure good communication between the dentist and family in terms of ensuring oral hygiene and preventing the development of undesired complications.  How to cite this article: Saribas E, Acun Kaya F, Dogru AM, Aluclu MU.  Hereditary Sensory Neuropathy: A Case Report. Int Dent Res 2016;6:9-12. Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.


2012 ◽  
Vol 59 (3) ◽  
Author(s):  
Anna Potulska-Chromik ◽  
Dagmara Kabzińska ◽  
Marta Lipowska ◽  
Anna Kostera-Pruszczyk ◽  
Andrzej Kochański

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic neuropathy type 2, with acromutilations in upper and lower limbs, and autonomic dysfunction. To the best of our knowledge this is the first genetically proven case of hereditary sensory and autonomic neuropathy type 2 originating from East Europe.


1997 ◽  
Vol 79 (8) ◽  
pp. 1232-4 ◽  
Author(s):  
CHRISTIAN KRETTEK ◽  
SYLVIA GLÜER ◽  
HAJO THERMANN ◽  
DAVID A. LEWIS ◽  
SUSANNE SCHWEITZER ◽  
...  

1987 ◽  
Vol 36 (2) ◽  
pp. 424-427
Author(s):  
Takashi Ikeda ◽  
Muneyoshi Kawaguchi ◽  
Tetsuo Nakano ◽  
Makoto Kai ◽  
Jungi Ide ◽  
...  

Author(s):  
Josué Saúl Almaraz Lira ◽  
Alfredo Luis Chávez Haro ◽  
Cristian Alfredo López López ◽  
Remedios del Pilar González Jiménez

Introduction. Scorpion stings occur mainly in spring and summer, with an estimate of 1.2 million cases per year worldwide. About 300,000 poisonings occur within a year, primarily affecting children and adults older than 65 years. In 2019, Guanajuato (Mexico) ranked third in poisoning by scorpion sting with a total of 43,913 cases. The intoxication grades are three where the signs and symptoms are varied. There are two types of antivenom in the Mexican market, and we use Alacramyn® in our case. Case presentation. A 70-year-old female —with grade 1 scorpion sting poisoning, 30 minutes of evolution, with type 2 diabetes and high blood pressure— received two vials of antivenom according to current regulations. She presented transient vagal reaction and subsequent transient pain in the cervical region that radiates to the sacral region. At discharge, there are no data compatible with scorpion sting poisoning. Conclusions. Transient pain in the cervical region to the sacral region may be secondary to an anxiety crisis, hypersensitivity to IgG, or secondary reaction to administration in less time than recommended by the provider. The benefit was greater than the reactions that occurred.


2016 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Naresh Bansal ◽  
Ashok Gupta ◽  
Manisha Goyal ◽  
Manish Sharma ◽  
Priyanshu Mathur ◽  
...  
Keyword(s):  

2016 ◽  
Vol 17 (4) ◽  
pp. 277
Author(s):  
Yeo Un Kim ◽  
Jae Hoon Kwak ◽  
Se Hwan Yeo ◽  
Seong Su Moon ◽  
Young Sil Lee

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