Nocturnal choking episodes: under-recognized and misdiagnosed.

Causes of nocturnal paroxysmal events include a variety of disorders such as epileptic seizures, parasomnias, sleep-related movement disorders, and psychiatric disturbances. Timing and semiology of the events, simultaneous video-electroencephalographic observation, presence of any daytime events, and relevant psychiatric and medical history may help in sorting out various possibilities considered in the differential diagnosis of such events. Timely diagnosis of these events is crucial for appropriate management; under-recognition and misdiagnosis of nonepileptic events is not uncommon. Described here are two cases within the spectrum of nocturnal paroxysmal events, one with nocturnal panic attacks and the other with frontal lobe epilepsy, each presenting with choking episodes.

Dystonic storm due to Batten's disease treated with pallidotomy and deep brain stimulation.

To report a novel treatment approach, pallidotomy and deep brain stimulation (DBS), in two sisters with dystonic storm due to Batten's disease. This study is based on long-term follow-up of two sisters, presenting with dystonic storm and their response to pallidotomy and DBS. These sisters, who had visual loss, seizures, and progressive psychomotor decline, experienced progressive disabling abnormal movements culminating in dystonic storm at the age of 15 and 17 years, respectively. In addition to intubation and sedation, multiple medications, including botulinum toxin injections and intrathecal baclofen infusion were tried in both patients without any benefit. The old sister underwent bilateral pallidotomy. Within 10 days postoperatively, there was marked improvement in dystonic storm. She was free of abnormal movements for 9 months. Then she started having opisthotonus lasting 20 seconds to an hour several times/day, but over 6 years abnormal movements are markedly improved, and not returned to pre-pallidotomy level. The young sister underwent both bilateral pallidotomy and DBS, 3 weeks apart. She was free of abnormal movements for 7 months and able to maintain reduction in the abnormal movements by adjusting DBS settings. Pallidotomy and DBS should be considered in dystonic storm due to Batten's disease.

Startle disease-two sibling cases.

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.

Evaluation of 39 children with stroke regarding etiologic risk factors and treatment.

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.

Two siblings with familial idiopathic scoliosis with conjugate gaze palsy.

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 - a report of three cases.

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.

Type II hyperprolinemia: a case report.

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.