Biomedical subjects
Publications and source records attributed to Mürüvet Elkay.
Familial idiopathic scoliosis with conjugate gaze palsy is a rare autosomal recessive disorder characterized by progressive scoliosis and congenital absence of conjugate horizontal eye movement. In this article, two siblings who had scoliosis and conjugate gaze palsy are presented regarding clinical and laboratory findings.
Hot water epilepsy (HWE) is a rare form of reflex epilepsy caused by bathing with hot water. In this paper, we describe three cases with hot water epilepsy. It occurs generally in children with normal psychomotor development and children continue to develop normally after seizure. HWE has usually a favorable prognosis by first avoiding lukewarm water and secondly using either intermittent oral prophylaxis with benzodiazepines or conventional AEDs.
Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age. Laboratory findings revealed elevated levels of proline, glycine, and ornithine in serum and pyrroline-5-carboxylate and hydroxyproline in urine. Cerebral computerized tomography and magnetic resonance imaging were both normal. Electroencephalogram showed a very active epileptic abnormality; partial control of seizures was achieved by two antiepileptics. Increased plasma glycine and ornithine levels are the unique features of our case when compared to the other HP II cases reported in the literature.
Stroke etiologies in childhood differ from those in adulthood. While in children, congenital and acquired heart diseases and sickle cell anemia (SCA) are commonly seen causes, atherosclerosis is the main cause in adults. In this study, 39 children admitted to our hospital with ischemic stroke were evaluated according to etiologic factors and treatment regimens with comparison to the literature. Congenital-acquired heart disease and central nervous system infections (meningoencephalitis) were the most common causes in our series. Only one patient had dual pathology. As a result, cardiologic and infectious causes appeared to be the most important etiologic factors, especially in our region. Furthermore, etiologic factors rather than treatment used may play an important role in stroke recurrence.
Startle disease (hyperekplexia) is a rare non-epileptic disorder characterized by hypertonia, generalized stiffness and brief muscle jerks in response to unexpected auditory, somatosensory and visual stimuli. In this paper, two siblings with generalized stiffness and sudden muscle jerks to unexpected stimuli of various types are presented. They were previously misdiagnosed as epilepsy and treated with the conventional antiepileptic drugs. We wanted to call attention to and increase awareness of this rare disease and its differential diagnosis to avoid unnecessary investigations and treatment.