Sevgi Yimenicioglu

Breath holding spells: Point prevalence and associated factors among Turkish children

Breath holding spells (BHS) are known as paroxysmal non‐epileptic disorder. There are two subtypes of BHS: cyanotic and the pallid. BHS have been reported to occur in 0.1–4.6% of children in Western countries. Although it is easy to diagnose in its typical form, the data on prevalence of BHS are insufficient in developing countries.

Co-existence of acute transverse myelitis and Guillain–Barré syndrome associated with Bartonella henselae infection

Abstract Cat scratch disease (CSD) is a benign, self-limiting condition associated with Bartonella henselae. Neurological manifestations are uncommon. Acute transverse myelitis and Guillain–Barré syndrome have been reported rarely with CSD. This report describes a 12-year-old boy with acute transverse myelitis and Guillain–Barré syndrome associated with CSD.

Nonconvulsive status epilepticus due to drug induced neurotoxicity in chronically ill children

Nonconvulsive status epilepticus (NCSE) is a specific form of status epilepticus and is defined as epileptic activity on an EEG without seizures and as an alteration in mental status lasting more than 30 min. NCSE may be caused by drugs, cerebrovascular events, metabolic disorders or toxins. Herein, we present four cases of patients with drug-induced NCSE who were chronically ill due to renal failure or childhood leukemia. NCSE should be suspected in patients with an altered mental status without clinical seizures who are being treated with multiple drugs.

Evaluation of Pediatric Stroke Patients

Objective: Childhood stroke is common than expected due to increased availability of imaging studies. We aim to evaluate clinical and radiologic findings of stroke. Method: In this study 23 children (15 boys, 8 girls) aged 3 months to 17 years were included. Clinical findings and etiologic causes of the patients with radiologic confirmed stroke and treatment options are considered. Result: Clinical signs of our patients include hemiparesis, seizure, speech disturbance, headache, facial nerve palsy, confusion, cerebellar signs, syncope, visual field defect, headache. Most frequent presenting symptoms are hemiparesis and seizure. Conclusion: In our study most frequent risk factors are prothrombic states, infection, vasculopathy, cardiac disease, trauma, vascular malformation respectively.

Akathisia in association with herpes simplex encephalitis relapse and opercular syndrome in children

We report a 2-year-old boy with herpes simplex virus type 1 encephalitis (HSE) and opercular syndrome who presented with clinical relapse characterized by chorea-like involuntary movements that suggest akathisia. The patient initially presented with multiple focal seizures that cause epilepsia partialis continua, polymerase chain reaction (PCR) for herpes simplex virus type 1 was positive. He developed hypersalivation, speech and swallowing difficulties within 30days. Based on these findings the patient was diagnosed as having opercular syndrome due to HSE. He developed akathisia on 44th day of admission as a relapse and he was successfully treated with propranolol. Opercular syndrome might be seen HSE in children and it may cause neurological suquela. Akathisia might be seen after encephalitic process as a symptom of relapse, however diagnosis of akathisia is difficult in young children. It should be noted that because propranolol effective for these involuntary movements. It can be add additional choice of treatment in these patients.

A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype

PurposeNeurofibromatosis–Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.MethodSequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.ResultNeurofibromatosis–Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.ConclusionWe report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.

Chorioretinitis as a first sign of SSPE.

Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder. Ocular involvement in SSPE has been well known and might be seen in 42 to 50% of the patients. Visual findings are generally seen at stage III with neurological abnormalities. Ophthalmologic involvement might be preceding typical SSPE symptoms.

Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)

ABSTRACT Background: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety about fevers and seizures occurring in their children. There are no routine recommendation to detect etiological causes of FS for neurological perspective, further knowledge about the etiological causes of FS in children will support preventive measures and follow-up strategies. The aim of this study is to evaluate the percentage of respiratory viruses in children with FS. Methods: This prospective multicenter study, entitled “Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)” examined representative populations in eight different cities in Turkey between March 1, 2016 and April 1, 2017. Nasopharyngeal swabs were taken from all children at presentation. A respiratory multiplex array was performed to detect for influenza A and B; respiratory syncytial virus A and B; human parainfluenza virus 1-2-3 and 4; human coronavirus 229E and OC43; human rhinovirus; human enterovirus; human adenovirus; human bocavirus; human metapneumovirus. Results: During the study period, at least one virus was detected in 82.7% (144/174) of children with FS. The most frequently detected virus was adenovirus, followed by influenza A and influenza B. Detection of more than one virus was present in 58.3% of the children with FS, and the most common co-existence was the presence of adenovirus and influenza B. In children younger than 12 months, Coronavirus OC43 was the most common, while influenza A was most frequently observed in children older than 48 months (p < 0.05). Human bocavirus was common in children who experienced complex FS, while respiratory syncytial virus (RSV) A was more common in children who experienced simple FS. Influenza B virus was the most common virus identified in children who were experiencing their first incidence of FS (p < 0.05). Conclusions: This study indicates that respiratory viruses are important in the etiology of FS in children. The results show that antibiotics must be prescribed carefully in children with FS since the majority of cases are related to viral causes. Widespread use of the existing quadrivalent influenza vaccine might be useful for the prevention of FS related to the flu. Further vaccine candidates for potential respiratory pathogens, including RSV, might be helpful for the prevention of FS.

Griscelli Syndrome with neurological deterioration: A case report.

Griscelli syndrome (GS) is an autosomal recessive disorder with partial albinism, silver gray hair, hepatosplenomegaly, immune deficiency, hemophagocytic lymphohistiocytosis (HL), and neurological manifestations (1,2). There are three types: Griscelli syndrome type 1 (GS 1): Early severe psychomotor retardation and a normal immune state; Griscelli syndrome type 2 (GS 2): Immune deficiency, hemophagocytic lymphohystiocytosis, and neurological findings in the absence of a primary neurologic disease; Griscelli syndrome type 3 (GS 3): Includes partial albinism with hypopigmentation of the hair and skin (1). Central nervous system involvement has been described previously. Here, we describe a case of GS 2 without HL.

Hot Water Epilepsy Successfully Treated With Daily Clobazam.

Hot water epilepsy (HWE) is a rare form of reflex epilepsy precipitated by a bath or shower in hot water. Although the condition is benign and a decreased bath temperature will help, antiepileptic drugs may be needed in some cases. Prophylactic clobazam is currently the first choice treatment option. Here we report the case of a 10-year-old boy with HWE successfully treated with daily doses of clobazam. Daily clobazam was preferred over prophylactic clobazam because of the patients frequent bathing and parental concern. Daily clobazam is a novel treatment option for HWE and seems to be a good choice where antiepileptic drugs are necessary.