RESUMEN
UNLABELLED: Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear. CONFLICT OF INTEREST: None declared.
RESUMEN
BACKGROUND: Migraine is a common disabling disorder of childhood and adolescence. Despite advances in the understanding of migraine pathophysiology, treatment remains a challenge. OBJECTIVES: The aims of this study were to investigate the production of nitric oxide synthase (NOS) enzymes in the brain stem of adolescent rats, using an experimental model of migraine, and the effect of sumatriptan pretreatment on the production of the NOS enzymes. METHODS: Male adolescent (aged ~2 months) Wistar rats were used in the study. The animals were anesthetized using pentobarbital. The trigeminovascular system was stimulated by injecting a proinflammatory molecule, carrageenan, into the cis-terna magna of the anesthetized rats. The animals were divided into 3 groups of equal size: (1) the study group, in which the rats were treated with sumatriptan succinate 2 hours before intracisternal carrageenan injection; (2) the sham group, in which the rats were not administered intracisternal carrageenan injection or sumatriptan pretreatment; and (3) the control group, in which the rats were administered intracisternal carrageenan injection but were not pretreated with sumatriptan. In the control and study groups, the rats were euthanized using ether anesthesia 1 hour after intracisternal carrageenan injection. Rats in the sham group were euthanized 1 hour after intracisternal catheterization. Brain tissue was removed and endothelial NOS (eNOS), neuronal NOS (nNOS), and inducible NOS (iNOS) immunohistochemistry was performed. RESULTS: Twenty-one rats were randomized into 3 groups of 7. The mean values of the immunolabeling intensities for eNOS, nNOS, and iNOS enzymes in the brain stem were significantly lower in the sham group compared with the control group (P = 0.001, P = 0.002, and P = 0.001, respectively). The mean values of the immunolabeling intensities of eNOS, nNOS, and iNOS in the brain stem were significantly lower in the study group compared with the control group (P = 0.001, P = 0.025, and P = 0.005, respectively). CONCLUSIONS: In this experimental model of migraine in adolescent rats, intracisternal injection of carrageenan was associated with a significant increase in the production of NOS enzymes in the brain stem. Pretreatment with sumatriptan was associated with a decrease in NOS production.
RESUMEN
The aim was to investigate the immunoreactivities for NOS enzymes in frontal cortex and meningeal vessels after chemical stimulation of the subarachnoid space of adolescent rats and the effect of sumatriptan pre-treatment on the immunoreactivities of the NOS enzymes. Male adolescent Wistar rats were used. Rats in group 1 did not taken intracisternal injection. Rats in group 2 were taken intracisternal autologous blood injection, but no sumatriptan pre-treatment. Rats in group 3 were taken intracisternal autologous blood injection, but they were taken sumatriptan pre-treatment. Tissue samples were investigated for the presence of NOS immunoreactivity. The mean values of immunolabeling intensities for NOS enzymes in frontal cortex and meningeal vessels were significantly increased in group 2 compared to group 1. The mean values of immunolabeling intensities for NOS enzymes in frontal cortex and meningeal vessels were significantly reduced in group 3 compared to group 2. These results suggest that, chemical stimulation of the subarachnoid space increased the immunoreactivities of NOS enzymes in the brain of adolescent rats. The increased NOS immunoreactivities could be antagonized by pre-treatment with sumatriptan.