Case Report Atypical Presentation of Sj¨ ogren-Larsson Syndrome D. Papathemeli, 1 A. Mataftsi, 2 A. Patsatsi, 1 D. Sotiriadis, 1 M. Samouilidou, 2 S. Chondromatidou, 3 and A. Evangeliou 4 1 2ndDepartmentofDermatologyandVenereology,FacultyofMedicine,AristotleUniversityofessaloniki,PapageorgiouGeneral Hospital, essaloniki, Greece 2 2nd Department of Ophthalmology, Faculty of Medicine, Aristotle University of essaloniki, Papageorgiou General Hospital, essaloniki, Greece 3 Department of Radiology, Papageorgiou General Hospital, essaloniki, Greece 4 4th Department of Pediatrics, Faculty of Medicine, Aristotle University of essaloniki, Papageorgiou General Hospital, essaloniki, Greece Correspondence should be addressed to D. Papathemeli; dpapathem@live.com Received 22 July 2017; Revised 14 September 2017; Accepted 27 September 2017; Published 18 October 2017 Academic Editor: Edvige Veneselli Copyright©2017D.Papathemelietal.isisanopenaccessarticledistributedundertheCreativeCommonsAttributionLicense, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Sj¨ ogren-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). is syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal. 1.Introduction Sj¨ ogren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by deficient activity of fatty aldehyde de- hydrogenase (FALDH) and is characterized by congenital ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. is is a case of SLS with atypical presentation, expanding the phenotypic spectrum of the syndrome. 2.Case Presentation A 3-year-old girl of Greek descent was referred to our hospital due to gait disturbance and undiagnosed skin lesions. e patient presented bilateral spasticity of the legs. Acquisition of motor skills was delayed, as she achieved standing without support and walking at the age of 13 and 16 months, respectively. At the age of 16 months, she spoke 8–10 words. ere was no history of epileptic seizures. Upon examination, she presented with extensive hyperkeratosis and scaling of the skin especially on palms and soles and hyperpigmented skin flexures (Figures 1–3). Her hair and fingernails were normal. ere was a history of recurrent chalazia. Her birth was at full-term (39 weeks), following an uneventful pregnancy. She is the fourth living child of a consanguineous couple who reported being third cousins, all other siblings having no significant medical history. Height (104cm), weight (16.5kg), and head circumference (53.5 cm) were within normal age limits at presentation. Neurological evaluation revealed spastic diplegia of lower extremities, mild generalized increase in muscle tone, deep tendon reflexes of the lower extremities, and positive Babinski reflexes bilaterally. Intelligence was normal (IQ 95). Elec- troencephalopathy, otoacoustic emission test (OAE), ab- dominal and renal ultrasound, and X-ray of the chest and hips appeared to be normal. Conventional magnetic resonance imaging (MRI) of the brain disclosed diffuse symmetrical high-intensity lesions in the deep white matter of the centrum semiovale and the frontal lobes and milder-intensity diffuse lesions in the posterior parietal lobes and the corpus callosum, while magnetic resonance spectroscopy (MRS) showed moderate increase of lipid and myoinositol levels. Other metabolites like N-acetyl aspartate (NAA), choline (Cho), and creatine (Cr) were within normal limits (Figures 4–6). Fundoscopy was performed to search for signs of metabolic retinopathy, and no abnormal features were Hindawi Case Reports in Pediatrics Volume 2017, Article ID 7981750, 4 pages https://doi.org/10.1155/2017/7981750