Hot Water Epilepsy in a Pregnant Woman: A Case Report

Hot water epilepsy is a unique form of reflex epilepsy precipitated by the stimulus of bathing with hot water poured over the head. It is mostly seen in infants and children, with a predominance in males. Unlikely, we present a 32-year-old pregnancy woman with the incipient of reflex seizures triggered by pouring hot water over the head while having a bath during the gestation period and treated successfully with carbamazepine 400 mg/day therapy. Hot water epilepsy is known as a benign and self-limited reflex epilepsy, by firstly avoiding hot water or long showers and secondly using intermittent benzodiazepines or conventional antiepileptic drugs, may be sufficient to be seizure-free

Clinical overlap of multiple sclerosis and autoimmune hepatitis: three cases

Multiple sclerosis (MS) is an autoimmune, inflammatory disease characterized by demyelination and axonal degeneration in the central nervous system. MS is the second major cause of disability following trauma, and is mostly seen between the ages of 20 - 40 years and in women. Autoimmune hepatitis (AH) is a chronic disease characterized by hypergammaglobulinemia, high levels of transaminases, presence of antibodies, and histologically by the necroinflammatory process with interface hepatitis. In AH, the etiological agent of the disease and the cause of liver injury remain unknown. MS may be associated with AH, autoimmune thyroiditis, and type 1 diabetes mellitus (DM). In literature, 8 cases with overlap of MS and AH have been reported. In this report, we present 3 cases which were detected with overlap of MS and AH, and are very rare condition in literature

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants.Materials and methods. Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants.Results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients.Conclusions. Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood

Evaluation of Patients with Cerebral Venous Sinus Thrombosis

OBJECTIVE: The aim of this article is to point out the etiology, risk factors, the rate of recanalization and mortality of cerebral venous sinus thrombosis patients. METHODS: The current study was planned as retrospectively and fifty patients were included. All the patients were analyzed according to the clinical presentation, etiologic causes, risk factors, presence of MR lesion, the involvement of anatomic localization, recanalization and mortality. RESULTS: The most frequent risk factors of the cases were prothrombotic conditions (34%), pregnancy (14%) and puerperium (8%). The most frequent involvement was transverse sinus and secondly more than one sinüs thrombosis. As clinical application symptoms we detected headache (68%) and then focal neurologic deficiency (30%). On the other hand, at least 3 month’s incidence rate of recanalization in the patients was 70.7%. Except for 2 cases that ended with death, the mortality of the cases was low. We could not find a significant association between risk factors and the presence of cerebral MR lesion or not (p=0.42) and also the presence of recanalization or not in the follow-up MR venography (p=0.625). CONCLUSION: We have concluded that, in the diagnosis and follow-up of cerebral venous sinus thrombosis, MR venography is the best method; through early diagnosis and proper treatment, the rate of recanalization will be fairly high and mortality will be low. In etiology, besides trombotic conditions, pregnancy and puerperium must be considered as one of the frequent risk factors

Ischemic stroke in a young man with MTHFR A1298C and ACE I/D polymorphism

Ischemic stroke is a leading cause of death and disability worldwide. Mutations in several candidate genes involving angiotensin-converting enzyme (ACE) and methylenetetrahydrofolate reductase (MTHFR) gene have been found to be associated with ischemic stroke. This report describes the case of a 29 year-old man who presented with sudden onset left hemiparesis and hemihipoestesia. Magnetic resonance imaging investigations showed acute ischemic infarct in the right parietal region. Mutation analysis revealed homozygout MTHFR A1298C and ACE I/D polymorphisms and laboratory invastigations showed mild hyperhomocysteinemia. No other risk factor was detected for ischemic stroke etiology

The Association between Insulin-like Growth Factor-1 and Insulin-like Growth Factor Binding Protein-3 Levels and Clinical Prognosis in Patients with Ischemic Stroke

OBJECTIVE: Recent studies report that the insulin-like growth factor system may be involved in stroke pathogenesis, and is reported to increase myelination, maturation, cell proliferation and neuronal sprouting of the central nervous system. The aim of the present study is to demonstrate the role of insulin-like growth factor system in ischemic stroke pathogenesis and its association with the prognosis by investigating insulin-like growth factor-1 and insulin-like growth factor binding protein-3 levels in patients diagnosed with acute ischemic stroke. METHODS: : Sixty-eight patients and 20 healthy individuals were included to this study. Clinical evaluation of the patients was performed according to National Institute of Health Stroke Scale and functional outcomes were graded according to Modified Rankin Scale. Bamford classification was used for the clinical classification of ischemic strokes, and the TOAST system for etiological classification. Each patient's levels of insulin-like growth factor-1 and insulin-like growth factor binding protein-3 were measured on the first, fifth and thirtieth day of ischemic stroke. RESULTS: Only the levels of insulin-like growth factor binding protein-3 on the day of 5 were significantly decreased compared to the control group. The decrease in IGF-1 values was associated with an increased risk of death and was accompanied by clinical worsening and decreased functionality. CONCLUSION: It has been concluded that the levels of investigating insulin-like growth factor-1 and insulin-like growth factor binding protein-3 may affect mortality risk, clinical condition and functionality outcomes in patients presenting with ischemic stroke, and further studies are needed for the investigation of different effects of insulin-like growth factor-1 in future

Autonomic Symptoms in Migraineurs: Are They of Clinical Importance

Aim: The aim of this study was to evaluate the presence of autonomic symptoms in migraine patients with and without aura and to investigate whether there is an association between expression of autonomic symptoms and disease duration, headache side, attack duration and frequency. Methods: The study sample comprised 82 subjects in headachefree phase including 20 migraine with aura patients and 62 - without aura; 61 were females (74.39%) and 21 were males (25.61%). The mean headache frequency was 2.63±1.29 per month and the mean duration of headache occurrence was 10.04±7.26 years from the first episode. The subjects were asked whether or not they had autonomic symptoms like diaphoresis, diarrhea, eyelid oedema, pallor, flushing, syncope or syncope-like episode, constipation, palpitation, diuresis, blurred vision, sensation of chills and coldness during each migraine headache. Results: Of all 82 migraine patients, 50 (60.98%) experienced at least one of the autonomic symptoms during the attack periods. The most common symptom was flushing (39.2%). Among the autonomic symptoms, syncope or syncope-like episode was significantly more in patients without aura compared to those with aura (p<0.05). In this study, patients who experienced autonomic symptoms during their headache attack had statistically significantly higher attack frequency (p=0.019). Conclusion: This result indicate that migraine patients with autonomic nervous system involvement have more frequent headaches, therefore these patients should be particularly and cautiously investigated. (The Medical Bulletin of Haseki 2011; 49: 62-6