Sema Saltik

A Clinical and EEG Study on Idiopathic Partial Epilepsies with Evolution into ESES Spectrum Disorders

Summary:  Purpose: Questioning the presence of any possible prognostic predictors, this study includes a long‐term follow‐up of clinical and EEG characteristics of 16 patients with idiopathic partial epilepsy (IPE) who subsequently developed epilepsy with electrical status epilepticus during slow sleep (ESES) spectrum disorders.

A retrospective analysis of patients with febrile seizures followed by epilepsy

This study was performed to investigate some clinical parameters of febrile seizures (FSs) in patients with epilepsy, testing any possible correlation between those parameters and the type of subsequent epilepsy. One hundred and nine patients with epilepsy having a history of FSs were evaluated for age at onset of FSs, interval between first FS and first afebrile seizure, recurrence rate, type of FSs, incidence of febrile status, family history for epilepsy and for FSs and the neurological status of the patient. The epilepsy that developed subsequently, were classified as generalised versus partial and also according to their syndromic subgroups. In temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS), statistical analyses revealed a younger age at onset of FSs, and a high incidence of episodes of febrile status and of complex FSs. Clinical characteristics of FSs followed by partial epilepsies were younger age at onset, presence of focal features and of febrile status, longer interval between the first FS and the first afebrile seizure, and a high incidence of FSs in the family history. In generalised epilepsies, however, a shorter interval between the first FS and the first afebrile seizure, a high incidence of single FS and of a family history of epilepsy were predominating characteristics. Results suggest that certain features of FSs may be predictive of a particular type of subsequent epilepsy.

EEG abnormalities in West syndrome: Correlation with the emergence of autistic features

Autism may develop in children with West syndrome. This study was conducted to determine if EEG abnormalities in patients with West syndrome predict the later onset of autism. Two groups of patients with West syndrome, older than 6 years of age, were studied. One group consisted of those with a past history of West syndrome plus autism (N=14); the control group consisted of those with a past history of West syndrome but without autism (N=14). Patients were followed at regular intervals and video-EEG recordings were done. A total of 108 (autistic group) and 123 (non-autistic group) video-EEGs were examined. The two groups were compared with respect to age, presence or absence of hypsarrhythmia, and characteristics and localization of the epileptogenic foci. chi2 and Fishers exact tests were used. The number of patients with at least one hypsarrhythmic EEG at the age of one year or later was significantly higher in autistic subjects (86%) than in non-autistic controls (29%). The incidence of EEGs with hypsarrhythmia was also higher in the autistic group, especially in older children (autistic, 49% versus non-autistic, 18% at age 3 years and later). Frontal predominance of the primary foci on EEGs with or without hypsarrhythmia was seen in 95.3% of the autistic group and 28.8% of the non-autistic group (p=0.001). Frontal abnormalities on the EEGs, which were mainly bilateral, and the persistence of hypsarrhythmia were significantly related to the emergence of autistic behavior in patients with West syndrome. These findings suggest that paroxysmal discharges in the cortical areas undergoing rapid maturation may be involved in the development of autistic features.

Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects.

An etiologic evaluation of 86 patients with infantile spasms is presented and the place of cranial magnetic resonance imaging (MRI) findings within this spectrum is discussed. A total of 103 cranial MRIs, performed between 4 and 72 months of age, were analyzed and classified according to the etiologic and pathophysiologic aspects. Ninety-one percent of cases were diagnosed as symptomatic infantile spasms, and hypoxic-ischemic encephalopathy was the primary cause (30%). The most common involvement was thinning of the corpus callosum in 43 patients (50%), followed by dilation of cerebral ventricles in 32 (36%), delayed myelination in 23 (26.7%), lesions of diencephalic deep gray matter in 17 (19.7%), and enlargement of the subarachnoid space in 12 (14%). Thin corpus callosum and diffuse atrophy were changes mainly associated with hypoxic-ischemic encephalopathy, whereas delayed myelination seemed to be independent from a specific etiology. The results showed that cranial MRI may provide considerable information regarding not only the etiology but also the pathophysiology of infantile spasms. (J Child Neurol 2003;18:241—246).

Informative Value of Magnetic Resonance Imaging and EEG in the Prognosis of Infantile Spasms

Summary:  Purpose: To investigate the informative value of EEG and cranial magnetic resonance imaging (cMRI) in the prognosis of infantile spasms (ISs); 86 patients with ISs were included in this study.

Pregabalin Treatment of a Patient With Complex Regional Pain Syndrome.

BACKGROUND Complex regional pain syndrome (CRPS) is a painful and disabling neurovascular condition. There is no consensus on the etiopathogenesis or the treatment. We present a patient with CRPS type 1 accompanied by a psychiatric disorder to discuss the relationship between CRPS and psychiatric disease and to emphasize the response of this case to treatment with pregabalin. PATIENT DESCRIPTION A 15-year-old girl presented with swelling, severe pain, edema, hyperesthesia, allodynia, and sweating changes in the left arm and was diagnosed as CRPS type 1. The presence of disturbed family relations was revealed on psychiatric examination, and a diagnosis of major depression was made. Her symptoms did not respond to selective serotonin reuptake inhibitors and noradrenergic and specific serotonergic antidepressives, gabapentin, or stellate ganglion blockage, but the patients pain resolved with pregabalin. Symptom-oriented measures and psychiatric support enabled ongoing treatment. A social services evaluation led to her being placed in the care of social services to protect her from the chaotic and traumatic family life. CONCLUSION Detailed psycological and psychiatric evaluation is recommended in individuals with CRPS because psychiatric support and improvement of associated psychosocial concerns in addition to pregabalin seems to facilitate treatments in some patients.

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid α-glucosidase (GAA) activity was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered.

Hypothalamic hamartoma presenting with infantile spasms

BackgroundHypothalamic hamartomas (HH) generally present with gelastic seizures. It is very unusual for a pediatric patient with HH to present with infantile spasms (IS).Case presentationHere we present a 6-month-old boy diagnosed with IS whose brain magnetic resonance imaging (MRI) showed an 18 × 18 × 16 mm mass in the hypothalamus. His seizures did not respond to antiepileptic treatment with vigabatrin and valproic acid. He had disconnective surgery for HH. Immediately postoperatively, his seizures subsided and he has now been seizure-free for 2 years.ConclusionAlthough hypothalamic hamartomas generally present with gelastic seizures, they should also be considered in the differential diagnosis of infantile spasms.

Otistik çocuklarda ne zaman EEG ve kraniyal MRG istiyoruz

When do we recommend an EEG and cranial MRI evaluation for autistic children? Objective: This study has planned to investigate the role of electroencephalography (EEG) and cranial magnetic resonance imaging (cMRI) in the evaluation and diagnosis of neurological disorders combined with autism in children. Method: A total number of 121 autistic children ranging from 3 to 18 years of age and who had applied to our hospital’s clinics between January 2010 and January 2011 were included. The sociodemographic properties, time of birth, birth history, weight at birth, age at onset of walking and language development were investigated. By means of a reevaluation of cMRI, sleep EEG and other examination findings, additional neurological diagnoses, if any were recorded. Children for whom, a cMRI/ EEG evaluation was carried out and for whom such an evaluation was not carried out was compared statistically as to certain risk factors separately for additional diagnoses and neurological disorders. In addition, the relationship between cMRI and EEG findings and additional neurological disorder was examined. Results: Autistic children (Male/Female: 92/76) aged 9.30±4.2 years have been diagnosed neurological disorder additionally with a percentage of 40%. The most common of these was the epileptic seizure as 33%. No data was obtained about an additional neurological disorder in 22% of cases who performed cMRI and in 34% of cases who performed EEG. Ratio of presence of a pathological finding in cMRI was high in patients with cerebral palsy, whereas it was not found to be meaningful in patients with epileptic seizures. Analyzing risk factors for neurological disease, birth history of perinatal problems and gait disorders were seen more frequently in patients who required cMRI as compared to those in patients who did not require cMRI. Gait age was older in patients who required cMRI (18±8 months) as compared to patients without cMRI (14±4 months). Conclusion: In our autistic children, cMRI and EEG examinations had been extensively used for the investigation of additional neurological disorders. Both cMRI and EEG examinations had been requested more frequent in the presence of perinatal problems. The other risk factors for additional neurological

Nörofibromatozis tip 1 hastalarında klinik ve kraniyal manyetik rezonans görüntüleme özellikleri Orijinal Araştırma

In this study we aimed to evaluate clinical the findings and cranial MRI findings especially in neurological aspect and to search for the relationship between the lesions on MRI and behavior cognitive disorders in Neurofibromatosis type 1 NF 1 patients Thirty one patients with NF 1 between the ages of 3 19 years mean 9 7±4 6 who had no other cranial MRI findings except optic gliyoma and NF 1 hyper intense lesions NHL on T2 weighted images were included in the study Denver II test was performed to all patients under 6 years old and WISC R and or Porteus test to the patients over 6 years The locations and extensions of the NHLs in total 46 MRI were noted and the relationship between these findings and behavior cognitive disorders were analyzed Benign seizure history in four recurrent headache attacks in six patients and behavior cognitive disorder in 50 of 22 patients over 6 years old were determined In evaluated total 46 MRIs optic gliyoma was in a ratio of 16 NHLs were sited most frequently in basal ganglia brain stem and cerebellum No relation was found between behavior cognitive disorders and the location number of locations and extension of NHLs In conclusion neuropsychological evaluation should be performed since behavior cognitive disorders might be seen commonly in NF 1 patients These disorders could be influenced by other parameters apart from NHLs on T2 weighted MRIs Key words: cognitive function disorders cranial magnetic resonance imaging norofibromatosis type1