Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Year : 2017 | Month : July | Volume : 11 | Issue : 7 | Page : ND01 - ND02

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent

Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa -Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro

1. Consultant, Ophtalmology Unit, Fundación Hospital Nuestra Señora de la Luz, IAP, Ciudad de México, Mexico. 2. Consultant, Ophtalmology Unit, Fundación Hospital Nuestra Señora de la Luz, IAP, Ciudad de México, Mexico. 3. Consultant, Ophtalmology Unit, Fundación Hospital Nuestra Señora de la Luz, IAP, Ciudad de México, Mexico. 4. Consultant, Ophtalmology Unit, Fundación Hospital Nuestra Señora de la Luz, IAP, Ciudad de México, Mexico. 5. Consultant, Endocrine Service, Hospital Universitario “Dr. José E. González”, Universidad Autónoma de Nuevo, Monterrey, Nuevo León, Mexico.

Correspondence Address :
Dr. Gerardo González-Saldivar,
Ezequiel Montes #135, Col. Tabacalera. C.P. 06030. Del. Cuauhtémoc, Ciudad de México, Mexico.
E-mail: dr.gerardo@meduanl.com

Abstract

Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima, and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux, and episodes of self-mutilation. Deep tendon reflexes were depressed, the blinking rate and corneal reflex were diminished as well, and corneas were opaque due to corneal erosions. Reduced lacrimal production was confirmed by the Schirmer test. Eye drops were recommended every 2-3 hours for corneal erosion and the patient was referred to the genetics department for further diagnostic confirmation.

Keywords

Dysautonomia, Familial, Hereditary-sensory and autonomic neuropathy type III

How to cite this article :

Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa -Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro . RILEY-DAY SYNDROME IN A HISPANIC INFANT OF NON-JEWISH ASHKENAZI DESCENT. Journal of Clinical and Diagnostic Research [serial online] 2017 July [cited: 2017 Sep 20 ]; 11:ND01-ND02. Available from
http://jcdr.net/back_issues.asp?issn=0973-709x&year=2017&month=July&volume=11&issue=7&page=ND01-ND02&id=10152

DOI and Others

DOI: 10.7860/JCDR/2017/25584.10152


Date of Submission: Nov 23, 2016
Date of Peer Review: Dec 25, 2016
Date of Acceptance: Mar 31, 2017
Date of Publishing: Jul 01, 2017

Financial OR OTHER COMPETING INTERESTS: None.

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