Case report Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: A new syndrome? Yoshiaki Saito a, * , Mitsuo Toyoshima a , Akira Oka a , Luan Zhuo a , Shin-ichi Moriwaki b , Osamu Yamamoto c , Susumu Kanzaki d , Kei-ichi Hanaki d , Haruaki Ninomiya e , Eiji Nanba f , Akiko Kondo a , Yoshihiro Maegaki a , Kousaku Ohno a a Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan b Department of Dermatology, Osaka Medical College, 2-7 Daigaku-cho, Takatsuki 569-8686, Japan c Division of Dermatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan d Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan e Department of Neurobiology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan f Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan Received 1 May 2007; received in revised form 2 August 2007; accepted 7 August 2007 Abstract We report on an 8-year-old boy with mental retardation and spastic tetraparesis associated with atrophic skin on the face and extremities, telangiectasia, and severe dental caries. Basal ganglia calcification and multiple lesions in the subcortical white matter have been present since infancy. The patient has complications of liver dysfunction, multiple endocrine defects, and elevation of blood/cerebrospinal fluid lactate. Extensive laboratory examinations, including skin and muscle biopsies, and UV- and mitomycin C-sensitivity tests on fibroblasts, provided no evidence of a specific disease entity. No deterioration was noted, and supplementation of riboflavin and other vitamins had no apparent effect on the neurodevelopmental status of this patient. This patient may represent a novel disease entity, with unclear pathogenesis. Ó 2007 Elsevier B.V. All rights reserved. Keywords: Neurocutaneous syndrome; DNA repair; Riboflavin; Cockayne syndrome; Rothmund–Thomson syndrome 1. Introduction Cutaneous lesions accompany neurological symp- toms in various conditions. These include hereditary metabolic disorders, nutritional deficiencies, autoim- mune diseases, neurocutaneous syndromes, and disor- ders of DNA repair. Here, we report a boy with unusual presentation of neurological symptoms, multi- ple endocrine defects, and skin lesions at sites exposed to sunlight. Since the manifestation of this patient was similar to the neurological symptoms in the Cockayne syndrome and the cutaneous symptoms of the Roth- mund–Thomson syndrome, differential diagnoses are discussed with a focus on the disorders of DNA repair. 2. Case report The patient was born uneventfully to non-consan- guineous parents at 39 gestational weeks. His family his- tory was unremarkable. He had a birth weight of 2264 g (À2.5 SD), body length of 46 cm (À2.0 SD), and OFD of 32 cm (À1.0 SD). He was referred to our clinic at 0387-7604/$ - see front matter Ó 2007 Elsevier B.V. All rights reserved. doi:10.1016/j.braindev.2007.08.004 * Corresponding author. Tel.: +81 859 38 6777; fax: +81 859 38 6779. E-mail address: saitoyo@grape.med.tottori-u.ac.jp (Y. Saito). www.elsevier.com/locate/braindev Brain & Development 30 (2008) 221–225