An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.

Congenital glycosylation defects are autosomal recessive disorders clinically characterized with growth retardation, hypotonia and multisystemic involvement. Congenital glycosylation defect type Ib is due to deficiency in phosphomannose isomerase which converts fructose-6-phosphate into mannose-6-phosphate. Patients usually present with hepatic or gastrointestinal symptoms lacking cranial involvement, making their IQ completely normal. We report a 10-month-old female patient referred to our clinic with persistent hypoglycemia, failure to thrive and hepatosplenomegaly who was diagnosed with congenital glycosylation defect type Ib. Oral D-mannose therapy was initiated shortly after diagnosis and her symptoms resolved in two weeks. Congenital glycosylation defect type Ib is an easily treatable disease and should be kept in mind in differential diagnosis in children and adults who show gastrointestinal symptoms, hyperinsulinemic hypoglycemia, palpable liver and spleen, growth retardation and elevated liver function tests.

Hashimoto's encephalopathy in children: different manifestations of five cases.

Hashimoto's encephalopathy (HE) is a rare, poorly understood, progressive and relapsing, steroid-responsive multiform disease. HE presents with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders. The disorder is usually related to thyroid disease and the most frequent feature is the presence of anti-thyroperoxidase antibodies. Patients are generally euthyroid or mildly hypothyroid. The clinical features of two patients at presentation included refractory seizures and confusion, another patient had behavioral problems and altered cognitive status, one patient presented with right-sided weakness and numbness especially in his leg and tongue, dysphagia, speech disorder, aggressiveness, nightmares and nocturnal enuresis and last patient had focal seizures with altered mental status. All patients manifested increased anti-thyroid antibodies. Four patients improved with steroid treatment, and one of the patients responded to plasmapheresis instead of corticosteroid treatment. Physicians' awareness of this complication is of great importance because HE is a highly treatable condition among children and adolescents.

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies.

BACKGROUND AND AIMS: The relationship between anti-epileptic usage and oxidative damage has not yet been clearly understood. In our study, we investigated oxidative stress parameters, carnitine levels, liver function tests (LFT) and their relationship in epileptic children treated with valproic acid or levetiracetam. METHOD: LFTs, serum free carnitine and oxidative damage markers and their relations with each other were determined in patients who are on valproic acid or levetiracetam treatment at least for 6 months. 25 patients on therapeutic doses of valproic acid, 26 patients on therapeutic doses of levetiracetam and 26 healthy volunteers as controls were included. LFTs, ammonia, carnitine, lipid peroxidation biomarker malondialdehyde (MDA) and a sensitive marker of DNA damage, 8-hydroxy-2-deoxyguanosine (8-OHdG) levels were measured. Results of patients are compared to healthy controls. The data is evaluated with IBM SPSS Statistics 22.0. RESULTS: Ammonia and MDA levels were elevated in patients using levetiracetam; 8-OHdG levels were elevated in both patient groups. Carnitine levels were significantly low in patients under valproic acid therapy, however they were not found to be correlated with MDA, 8-OHdG or LFTs. MDA showed positive correlation with ammonia and 8-OHdG in the levetiracetam group. CONCLUSION: We did not observe hepatotoxicity in patients under therapeutic doses of valproic acid. However, epileptic children under therapeutic doses of levetiracetam showed significantly elevated levels of MDA and 8-OHdG, which is supportive for oxidative damage under levetiracetam therapy. This result was observed for the first time in childhood epilepsies and further studies are needed to understand its mechanism.

Factors influencing the contraceptive method choice: a university hospital experience.

OBJECTIVE: To analyze the factors influencing behavior of women in choosing contraceptive methods. MATERIAL AND METHODS: A total of 4022 women who were admitted to our clinic in a year, were the subjects in this current study for contraception choices. Relationship between the current contraceptive choice and the age, marital status, educational level, gravidity and induced abortions were evaluated. RESULTS: Current users of any contraceptive methods were found to make up thirty-three percent of the entire study population. The most preferred method of contraception was an intrauterine device (46.4%), followed by, condom (19.2%), coitus interruptus (16.4%), tubal sterilization (11%), oral contraceptives (5.7%) and lastly the "other methods" that consisted of depot injectables and implants (1.2%). Among other contraceptive methods, the condom was found to be used mostly by the younger age group (OR:0.956, 95% CI:0.936-0.976, p<0.001), while tubal sterilization was preferred mainly by the elderly population (p<0.001, OR:1.091, 95% CI:1.062-1.122). Women that have a higher educational level, were found to use OC (76.3%, OR:5.970, 95% CI:3.233-11.022), tubal sterilization (59.6%, OR:4.110, 95% CI:2.694-6.271) and other methods (62.5%, OR:3.279, 95% CI:1.033-10.402) more commonly than the low educational group (p<0.001). CONCLUSION: These results demonstrated that the rates of both contraception utilization and the usage of more effective methods of contraception need to be increased by providing better family planning systems and counselling opportunities.