Akademik Veri Yönetim Sistemi
JOURNAL OF CHILD NEUROLOGY, cilt.22, sa.4, ss.427-431, 2007 (SCI-Expanded)
Oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder localized to Xq24-26.1. The phenotypic features of this disorder are Fanconi-type renal failure, mental retardation, and various eye abnormalities. Seizures may accompany the disease, and the skin-related findings are poorly defined. This case of a 9-year-old patient, diagnosed as having and followed for oculocerebrorenal syndrome of Lowe, has been presented for his seizures, which were initially myoclonic but subsequently atonic, and for his skin findings, understood to be trichoepithelioma, cystic in nature, and stemming from mature hair follicles. In monitoring the disease, the manifestation of the seizures as atonic seizures accompanied by focally initiated secondary generalized epileptic discharges is a finding previously undefined in oculocerebrorenal syndrome of Lowe. Moreover, the presence of dermal findings of a cystic nature is reported in few cases of this syndrome. In this rare syndrome, it is necessary to be aware of the presence of atonic seizures, which have an association with the progression of the disease that has not been previously reported in the literature, and of the cystic dermal lesions as part of the syndrome.