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Biomedical subjects

S Tütüncüoglu

Publications and source records attributed to S Tütüncüoglu.

5 recordsLinked to original sources

Molybdenum cofactor deficiency associated with Dandy-Walker complex.

Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral injury is unknown, but sulphite excess, and sulphate or uric acid deficiencies are possible factors. We present here a new case of Molybdenum cofactor deficiency associated with Dandy-Walker complex with a history of three dead siblings, the latter also having Dandy-Walker malformation. We speculate that severe cerebral volume loss due to the above mentioned mechanisms may lead to an appearance resembling Dandy-Walker malformation.

Brain↗

Infantile spasm: the effect of corticotropin (ACTH) on the free amino acid profile in cerebrospinal fluid.

Increased excitatory amino acid neurotransmission has been implicated in the pathogenesis of infantile spasm. In this study we studied the profile of free amino acids in cerebrospinal fluid (CSF) from 16 patients with infantile spasm before corticotropin (ACTH) treatment. After 10 weeks ACTH therapy the profile of amino acids in CSF was studied once more in eight of the patients. Eleven patients were in the symptomatic group, and five in the cryptogenic group. Increased aspartate levels were measured in CSF following ACTH therapy (P<0.05). It was concluded that aspartate might have an important role in hypothalamic-hypophyseal axis in patients with infantile spasm.

Adrenocorticotropic Hormone↗

A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.

In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.

Agenesis of Corpus Callosum↗

The family attitudes towards febrile convulsions.

Giving adequate information about febrile convulsion and its prognosis would be helpful in alleviating parental stress, and would contribute to decrease in the morbidity of febrile convulsion. In this study, the knowledge level of parents on taking body temperature, and decreasing high fever, their attitudes during febrile convulsion and the impact of febrile convulsion on parents are evaluated. One hundred seventy-four parents of 132 children with FC were enrolled in the study. Twenty-seven per cent of parents had no thermometer at home, 32.8% of them did not know how to take a temperature, 72.2% of them did not know the minimum range of increased body temperature, and 69.5% of them did not know how to decrease the increased body temperature. Thirty-six percent of parents recognised the convulsions when their children suffered from them, the others assumed the convulsion were fainting spells (6.9%), near death state (38.5%) and suffocation (18.4%). Thirty-six per cent of parents brought their children to the hospital without doing anything themselves. Most parents (91.4%) had a fear of a recurrence of febrile convulsion in their children. Seventy-four per cent of parents complained of insomnia, 24.3% parents had dyspeptic symptoms even 14 parents had weight loss due to dyspepsia.

Analysis of Variance↗