18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.
Chromosome 18p deletion syndrome ; Dystonic Disorders

OBJECTIVES: To underline the effect of oxidative stress in chronic otitis media with and without cholesteatoma and to compare the oxidative stress values in the serum and tissue specimens in these two forms. METHODS: The study included a total of 75 individuals, 35 cases with chronic otitis media (COM; 16 females and 19 males) and a healthy control group of 40 cases (20 females and 20 males). The COM patient group was comprised of 18 patients with cholesteatoma and 17 patients without cholesteatoma. All patients underwent mastoidectomy. Serum specimens were taken prior to surgery and diseased tissue specimens from the ear were obtained during surgery from all patients. Only serum specimens were taken from the healthy control cases. The malondialdehyde (MDA), superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GHPx) were measured in the serum and tissue samples of the patient group and in the serum specimens of the control group. RESULTS: The age ranged from 14 to 48 years in the patient group (mean age, 20.4+/-12.2 years) and from 19 to 40 years in the control group (mean age, 26.4+/-4.64 years). When the serum values of all COM patients were compared with those of the control group, in the patient group MDA, which reflects lipid peroxidation, was found to be significantly higher (P<0.01) whereas the antioxidant enzymes SOD, CAT, and GHPx were found to be significantly lower (P<0.01). When the serum and tissue MDA, SOD, CAT, and GHPx values in patients with and without cholesteatoma were compared, no significant difference was found these parameters (P>0.01). CONCLUSION: Although oxidative stress plays a role in the pathogenesis of COM with or without cholesteatoma, it may not reflect the severity of the disease. In patients with COM, the evaluation of only serum oxidative stress values without tissue evaluation may be sufficient for assessing oxidative stress.
Animals ; Catalase ; Cats ; Cholesteatoma ; Ear ; Female ; Glutathione Peroxidase ; Humans ; Lipid Peroxidation ; Malondialdehyde ; Otitis Media* ; Oxidative Stress* ; Superoxide Dismutase