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A clear cut genotype-phenotype correlation for Krabbe disease is not available. Therefore, it is important to identify new mutations and their associated phenotypes to predict the prognosis of the disease. The aim of this study is to identify the causative mutation(s) in a family with Krabbe disease. After a clinical evaluation and suspicion of Krabbe disease galactocerebrosidase activity was analyzed and GALC gene mutation analysis was performed. The galactocerebrosidase enzyme activity was 0.01 nmol/mg/h protein (normal range 0.8-4). For further investigation mutation screening was performed by Sanger sequencing across the 17 exons of GALC gene. A novel homozygous mutation c.727delT (p.S243QfsX7) was found. In this study we present the clinical findings along with a novel GALC mutation in a consanguineous Turkish family. Although the relationship between the various genotypes and phenotypes in Krabbe disease has not been fully elucidated an accurate genetic family study is helpful for genetic counseling follow-up and therapy of Krabbe disease. Also, it is important to identify new mutations in order to clarify their clinical importance, to assess the prognosis of the disease, and to suggest either prenatal diagnosis or preimplantation genetic diagnosis to the effected families. (C) 2012 Elsevier B.V. All rights reserved.

In this study,we aimed to evaluate the clinical and neuroimaging features in children with Sturge-Weber syndrome (SWS). Eleven patients with SWS were included in this study. Chart analysis, clinical evaluation, neurological and ophthalmological examinations, electroencephalographic and neuroimaging studies were evaluated retrospectively. The study approved by the Erciyes University Faculty of Medicine Ethics committee (07.08.2012/486). The mean age was 61.82 ± 39.73 months (range from 16 to 132 months ). The most common symptoms were convulsion and facial angioma. Port-wine stains was observed in all cases. Epilepsy, hemiparesis, psychomotor retardation and glaucoma were the most common issues. Cortical calcifications on cranial tomography (CT) scan was present in 6 cases. On magnetic resonance imaging (MRI) of cranial, there were cerebral atropy in 9 cases, leptomeningeal angioma in 7 cases, diploic proimence in 5 cases, enlargement of the choroid plexus in 5 cases, choroid plexus cyst in 3 cases and venous anomalies in 3 cases. Port-wine stains, epilepsy, hemiparesis, psychomotor retardation, glaucoma, cortical calcifications on CT, cerebral atrophy and leptomeningeal angiomatosis on MRI were the most frequent features of patients with Sturge-Weber syndrome in this series., Bu çalışmada Sturge-Weber sendromu (SWS) tanısı ile izlenen olguların klinik ve radyolojik olarak değerlendirilmesi amaçlandı. SWS tanısı konulan 11 olgunun klinik özellikleri, nörolojik ve göz muayene bulguları, elektroensefalografi ve kranial görüntüleme bulguları hasta takip dosyalarından geriye dönük olarak incelendi. Çalışma için Erciyes Üniversitesi Tıp Fakültesi etik kurul onayı (07.08.2012/486) alındı. Çalışmaya ortalama yaşları 61.82 ± 39.73 arasında değişen (16-132 ay) 11 olgu alındı. Olguların başvuruda en sık gözlenen yakınmaları, konvülsiyon ve yüzde leke idi. Porto şarabı lekesi tüm olgularda gözlendi. Epilepsi, psikomotor gerilik, hemiparezi ve glokom en sık gözlenen bulgulardı. Beyin Tomografisinde (BT) 6 olguda kalsifikasyon saptandı. Kranial manyetik rezonans görüntülemede (MRG), 9 olguda serebral atrofi, 7 olguda leptomeningeal anjiyoma, 5'er olguda kalvaryal kalınlaşma ve genişlemiş koroid pleksus, 3'er olguda da koroid pleksus kisti ve venöz anormaliler saptandı. Porto şarabı lekesi, epilepsi, hemiparezi, psikomotor gerilik, glokom, kortikal kalsifikasyon, serebral atrofi ve leptomeningeal anjiyoma en sık saptanan bulgulardı.

To determine the role of serum and urine selenium, and boron levels in children with resistant epilepsy.Serum and urine boron and selenium levels were studied in 53 cases (32 boys and 21 girls) diagnosed with resistant epilepsy between April 2006 and February 2007 at the Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey. Differences between groups were assessed using Student's t-test. Countable data were defined as percentage. Inter-group difference was assessed by Chi-square test. P-values less than 0.05 were considered significant.When serum and urine boron and selenium levels were evaluated and compare with controls, a statistically significant difference was found in serum selenium, urine selenium, and urine boron levels (p0.05). No significant difference was found in serum boron levels (p0.05).It was observed that there is a need for selenium supplementation in treatment of patients with resistant epilepsy, while no etiologic role is observed for boron.

Objective: Pseudotumor cerebri (PTC) is a clinical condition characterized by signs and symptoms of increased intracranial pressure, such as headache and papilledema. Our aim was to investigate the etiological and clinical features of pseudotumor cerebri (PTC) in children. Materials and method: We performed a comprehensive analysis of epidemiology, diagnostic work-up, therapy, and clinical follow-up in 42 consecutive patients. Results: Totally 42 patients diagnosed with PTC [27 (64.3%) females and 15, (35.7%) males] were included in the study. The average age of the symptoms onset was 10.79 +/- 3.43 years (range from 12 months to 17 years). Obesity was found in eleven (26.2%) of them. Two of the patients had familial mediterranean fever, two of them had posttraumatic PTC. The following diseases were one patient, respectively; mycophenolate mofetil-induced PTC, hypervitaminosis A induced PTC, corticosteroid induced withdrawal due to nephritic syndrome, use of oral contraceptives, Guillain-Barre syndrome, urinary tract infection, varicella-zoster virus infection and dural venous sinus thrombosis associated with otitis media. The most common symptom was headache, recorded in 76.2% of the patients. All patients were treated medically. Three patients in our group also required a ventriculoperitoneal shunt. Conclusion: Pseudotumor cerebri is an avoidable cause of visual loss, both in adults and children. Pre-pubertal obese girls are more common. Medical therapy appeared to be successful in treating pediatric PTC in most patients. Nevertheless, despite adequate treatment, children can rarely experience loss of visual field and acuity; thus, prompt diagnosis and management are important. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Guillain-Barré syndrome is a rapidly progressive symmetrical muscle weakness associated with acute inflammatory disease. Transverse myelitis (TM) is the inflammation of the spinal cord characterized by rapidly evolving muscle weakness in the lower extremities, defects in sensory level and sphincter dysfunction. Guillain-Barré syndrome, and TM association occurs very rarely in childhood. A 7-year-old girl presented with complaints of neck pain, spout-style vomiting, cough, shortness of breath, and acute paraparesis with sensory and sphincter disturbance. The patient was intubated because of increased respiratory distress. A positive direct fluorescein antigen test in bronchoalveolar lavage confirmed Legionella pneumophila infection. Imaging and neurophysiologic studies were diagnostic for TM with acute motor and sensory axonal neuropathy. She was treated with a combination of high-dose methylprednisolone and intravenous immunoglobulins, and we observed incomplete recovery. The presented case is the first child with concomitant TM and acute motor and sensory axonal neuropathy related to L. pneumophila infection.

Pseudotumor cerebri (PTC) is a syndrome characterized with increased intracranial pressure, normal cerebrospinal fluid content (CSF), and a normal brain on imaging studies. In this case report, PTC has been linked to mycophenolate mofetil (MMF) that has been used for autoimmune lymphoproliferative syndrome (ALPS)., INTRODUCTION: Pseudotumor cerebri (PTC) is a syndrome characterized with increased intracranial pressure, normal cerebrospinal fluid content (CSF), and a normal brain on imaging studies. In this case report, PTC has been linked to mycophenolate mofetil (MMF) that has been used for autoimmune lymphoproliferative syndrome (ALPS).CASE REPORT: A 5-year-old boy, who was using MMF for 4 months because of the ALPS, suffered from occipital headache and vomiting with no other symptom. The initial physical examination was normal expect bilateral papilledema. The patient underwent a lumbar puncture which showed elevated opening pressure (590 mmH²O) but no laboratory abnormalities of the CSF. A diagnosis of PTC was established. MMF was stopped, and the child was started on an acetazolamide treatment for 2 weeks. His symptoms and complaints recovered after this treatment.DISCUSSION: According to our knowledge, we report the first case of MMF-induced PTC in a boy with ALPS. This case illustrates that despite the rarity of MMF-induced PTC, the physicians should be aware of this possibility. Furthermore, in the setting of new-onset headaches or visual changes, early ophthalmologic examination for papilledema is recommended for early diagnosis.PMID:21305306[PubMed - indexed for MEDLINE]

Serious complications of central venous access occur in 0.4-9.9% of patients undergoing attempted central venepuncture. We report an unusual case of an 18-month-old infant in whom a right subclavian artery pseudoaneurysm developed rapidly after attempted subclavian vein catheterization without US guidance failed.

Objective Hashimoto thyroiditis (HT) is an autoimmune thyroid disease, characterized by different clinical courses and presentation. The purpose of this study was to identify the neurological manifestations of Hashimoto thyroiditis in children and evaluate their clinical outcome. Methods Fifteen patients under monitoring with a diagnosis of HT and also presenting with neurological manifestations were enrolled in the study. Patients presenting with change of consciousness was considered as Hashimoto's encephalopathy. Clinical outcomes were assessed by most recent neurological examinations during their visit at our pediatric neurology department. Results The study patients consisted of 2 boys and 13 girls. The mean age at diagnosis of patients was 12.8±2.83 years (age range, 6–17 years). The mean duration of follow-up was 25.8±12.7 months, and ranged from 6–48 months. At the time of presentation; 5 patients were euthyroid, and 10 was hypothyroid. Neurological findings at presentation included: headache in 10 patients, epileptic seizures in 5 patients, focal paresis in 4 patients, speech abnormalities in 3 patients, decreased school performance in 2 patients, ataxia in 2 patients, Hashimoto's encephalopathy in 2 patients, diplopia in 1 patients, status epilepticus in 1 patients, and coma in 1 patients. Abnormal electroencephalographic recordings revealed in 8 patients. All hypothyroid patients received thyroxine replacement therapy. Two patients received intravenous methylprednisolone, and 1 patient took intravenous immunoglobulin treatment. Four children received antiepileptic therapy for control of epileptic seizures. Four children improved spontaneously without any treatment. In contrast, Hashimoto's encephalopathy relapsed 6 times despite all the treatments in 1 patient during follow up period. Conclusion Hashimoto thyroiditis should be considered in any patient presenting with unexplained neuropsychiatric signs and symptoms.

Objective Torticollis is an abnormal head posture that occurs at all ages, seen in childhood with an estimated incidence of 1.3%. Clinical presentation includes ipsilateral tilt and controlateral rotation and translation. The purpose of this studyis to better understand the spectrum of disease in torticollis except congenital muscular torticollis. Methods 17 patients presented with complaints of twisted neck, neck pain, weakness of extremity, esotropia and gait disorder between May 2012 and November 2014 were enrolled in this study. Cranial and/or spinal MR, CT imaging, ultrasound and ph meter studies were performed in order to reveal etiology. Results Nine patient underwent surgery, two patientes received medical therapy for reflux and benign paroxysmal torticollis. For six patients only clinical follow-up was sufficient. Conclusion There is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with torticollis. Moreover, early diagnosis of etiological disease will reduce mortality and morbidity. Therefore, clinicians managing children with torticollis must be vigilant about underlying neurological complications.

Eosinophilic granuloma (EG) is a benign and solitary bony lesion of unknown etiology, which typically affects children: 90% of patients are between the ages of 5 and 15 years. EG, a variant of histiocytosis X, is a rare disease causing destructive bony lesions of the cervical spine in children. This report describes the case of a 5-year-old boy with torticollis who presented to the Emergency Department and was found to have EG of C-6. He was successfully treated with anterior cervical corpectomy and fusion by using anterior plate and screws, with resolution of his symptoms. (C) 2008 Elsevier Inc.