Atypical Presentation of Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2017-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/7981750 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556531842809856 |
|---|---|
| author | D. Papathemeli A. Mataftsi A. Patsatsi D. Sotiriadis M. Samouilidou S. Chondromatidou A. Evangeliou |
| author_facet | D. Papathemeli A. Mataftsi A. Patsatsi D. Sotiriadis M. Samouilidou S. Chondromatidou A. Evangeliou |
| author_sort | D. Papathemeli |
| collection | DOAJ |
| description | Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal. |
| format | Article |
| id | doaj-art-107327677e984faebdb6af1a5d539df4 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-107327677e984faebdb6af1a5d539df42025-02-03T05:45:09ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/79817507981750Atypical Presentation of Sjögren-Larsson SyndromeD. Papathemeli0A. Mataftsi1A. Patsatsi2D. Sotiriadis3M. Samouilidou4S. Chondromatidou5A. Evangeliou62nd Department of Dermatology and Venereology, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece2nd Department of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece2nd Department of Dermatology and Venereology, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece2nd Department of Dermatology and Venereology, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece2nd Department of Ophthalmology, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, GreeceDepartment of Radiology, Papageorgiou General Hospital, Thessaloniki, Greece4th Department of Pediatrics, Faculty of Medicine, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, GreeceSjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.http://dx.doi.org/10.1155/2017/7981750 |
| spellingShingle | D. Papathemeli A. Mataftsi A. Patsatsi D. Sotiriadis M. Samouilidou S. Chondromatidou A. Evangeliou Atypical Presentation of Sjögren-Larsson Syndrome Case Reports in Pediatrics |
| title | Atypical Presentation of Sjögren-Larsson Syndrome |
| title_full | Atypical Presentation of Sjögren-Larsson Syndrome |
| title_fullStr | Atypical Presentation of Sjögren-Larsson Syndrome |
| title_full_unstemmed | Atypical Presentation of Sjögren-Larsson Syndrome |
| title_short | Atypical Presentation of Sjögren-Larsson Syndrome |
| title_sort | atypical presentation of sjogren larsson syndrome |
| url | http://dx.doi.org/10.1155/2017/7981750 |
| work_keys_str_mv | AT dpapathemeli atypicalpresentationofsjogrenlarssonsyndrome AT amataftsi atypicalpresentationofsjogrenlarssonsyndrome AT apatsatsi atypicalpresentationofsjogrenlarssonsyndrome AT dsotiriadis atypicalpresentationofsjogrenlarssonsyndrome AT msamouilidou atypicalpresentationofsjogrenlarssonsyndrome AT schondromatidou atypicalpresentationofsjogrenlarssonsyndrome AT aevangeliou atypicalpresentationofsjogrenlarssonsyndrome |