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ABSTRACT: Palatal tremor is a rare movement disorder characterized by rhythmic movement of the soft palate. There are two subtypes: essential and symptomatic palatal tremor. Essential palatal tremor is characterized by tinnitus and an absence of other neurological deficits. Different treatment options have been used to treat palatal tremor, with varying success rates. Here we describe a patient with essential palatal tremor and who was treated with botulinum toxin injections.
Pediatric Neurology 05/2013; 48(5):415-7. · 1.52 Impact Factor
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ABSTRACT: 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.
Brain & development 03/2013; · 1.74 Impact Factor
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ABSTRACT: Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.
Case Reports 01/2013; 2013.
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ABSTRACT: Spinal tumours are observed in about 40% of neurofibromatosis type 1 (NF1) patients and occur within two subgroups: (1) NF1 patients carrying classical diagnostic criteria and only one or few spinal tumours and (2) patients with few NF1 stigmata but multiple bilateral spinal tumours, an entity called spinal neurofibromatosis. We report a young patient whose classical NF1 stigmata and numerous spinal neurofibromas matched both groups. He carried a single base deletion, c.389delA in exon 4a, which creates a premature termination at codon 164. This case illustrates the possibility of variant phenotypes and a novel NF1 mutation associated with spinal neurofibromatosis.
Case Reports 01/2013; 2013.
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ABSTRACT: Encephalitis is an uncommon neurological complication of Ebstein-Barr virus (EBV) infection and usually presents with confusion, decreased level of consciousness, fever, epileptic seizure, emotional instability and chorea. We present a patient with EBV encephalitis, characterised by nominal dysphasia, euphoria and personality changes.
Case Reports 01/2013; 2013.
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Journal of Paediatrics and Child Health 08/2012; 48(8):712. · 1.28 Impact Factor
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Pediatrics International 04/2011; 53(2):283-4. · 0.63 Impact Factor
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ABSTRACT: Recent reports have demonstrated elevated serum homocysteine (Hcy) levels in children receiving valproic acid (VPA) therapy. Elevated Hcy levels might play a potential role in the resistance to antiepileptic drugs, and might lead to an increased risk for a vascular disease. It has been reported that elevated total homocysteine (tHcy) levels are associated with elevated asymmetric dimethylarginine (ADMA) levels, which are factors that may be better indicators of endothelial dysfunction compared to serum homocysteine levels, because they are less sensitive to changes, such as fasting status, physical activity, and other factors. In this study, we aim to evaluate serum ADMA, Hcy, lipid, folate, and vitamin B₁₂ levels in epileptic children, receiving VPA monotherapy. Forty-four epileptic children, receiving VPA monotherapy for at least 6 months and 28 healthy children aged between 4 and 16 years, were recruited. Serum lipids, lipoproteins, folate, vitamin B₁₂, Hcy, and ADMA levels were analyzed in both study groups. Serum Hcy, ADMA, and vitamin B₁₂ levels were higher in patients than in controls (p < 0.001 for tHcy and ADMA levels; p < 0.05 for vitamin B₁₂ levels); however, serum lipid, lipoprotein, and folate levels were similar. According to the duration of epilepsy, serum tHcy, ADMA, and triglyceride (TG) levels were higher in patients with epilepsy for ≥ 2 years than in patients with epilepsy for < 2 years (p < 0.001 for serum ADMA levels, p < 0.01 for tHcy levels, and p < 0.05 for serum TG levels). Similarly, with respect to the duration of VPA therapy, serum tHcy, ADMA, and TG levels were higher in patients who had received VPA therapy for more than 2 years (p < 0.001 for serum ADMA levels, p < 0.05 for serum tHcy levels, p < 0.01 for TG levels). Serum ADMA levels were significantly higher in patients receiving VPA at the dose of 25-30 mg/kg/day than in those receiving 20 mg/kg/day (p < 0.01). In conclusion, our study found increased serum ADMA levels and increased tHcy levels in epileptic children receiving VPA monotherapy. Increased serum ADMA levels were demonstrated in epileptic children who have had a seizure history greater than 2 years, and have used VPA therapy for more than 2 years, and have received higher doses of VPA. Routine monitoring of serum ADMA and tHcy levels might have beneficial effects for patients receiving long-term VPA therapy, especially in children who have other potential risk factors for vascular diseases. Further studies are needed to investigate serum ADMA and Hcy levels, and the presence of vascular disease, as well as the potential interactions between serum ADMA levels and seizure control.
European Journal of Pediatrics 12/2010; 170(7):873-7. · 1.88 Impact Factor
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ABSTRACT: The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. We describe a 4-year-old girl with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, pachygyria, and diabetes insipidus.
Pediatric Neurology 07/2010; 43(1):76-8. · 1.52 Impact Factor
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Clinical dysmorphology 11/2009; 18(4):234-5. · 0.47 Impact Factor
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ABSTRACT: Recent findings have focused on the possible role of linezolid as a suitable candidate for the treatment of central nervous system infections. The linezolid treatment for meningitis was sporadically reported in adults but there was no report in children. Here, we present a 6-month-old boy with meningitis and subdural empyema which was unresponsive to more conventional agents but successfully treated with linezolid therapy. A previously healthy 6-month-old boy was referred to our clinic for deteriorating general condition with fever, vomiting and seizures. He had fever and tense-bulging anterior fontanelle. Based on his first cerebrospinal fluid (CSF) results, empirical antibiotic therapy for bacterial meningitis consisting of vancomycin and ceftriaxone was started. However, CSF culture yielded no micro-organisms but blood culture showed coagulase-negative Staphylococci. On the 7th day, he still had high fever and the erythrocyte sedimentation rate (ESR) and serum CRP levels had risen by 105 mm/h and 36.2 mg/dl, respectively. On 10th day, computerized cranial tomography showed bilateral frontoparietal subdural empyema. Purulent material was evacuated by burr hole, and gram stains of the material showed polymorphonuclear leukocytes and no microorganisms. Clinical and CSF findings of our case were, unresponsiveness to vancomycin, ceftriaxone and consecutive meropenem treatment while we still observed subdural empyema during these treatments. For this reason we started linezolid 10 mg/kg twice daily. Clinical signs improved dramatically, with both completely normal neurological findings and normalization of CSF and radiological findings. To the of our best knowledge, linezolid treatment of meningitis in children has not been reported previously. Clinical and CSF findings of our case were improved completely with linezolid treatment. Also, control cranial computerized tomography showed the total recovery of subdural empyema. Here we present the youngest case with meningitis which was successfully treated with linezolid treatment.
Journal of Tropical Pediatrics 01/2008; 53(6):431-3. · 1.39 Impact Factor
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Pediatrics International 11/2006; 48(5):493-4. · 0.63 Impact Factor
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ABSTRACT: We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters' anomaly, microcephaly, undescended testicle, patent ductus arteriosus and atrial septal defects. Ophthalmologic examination demonstrated central opacity of the left cornea and lens and iris adhesions extending from the pupillary margin to the borders of the opacity. Keratoplasty operation was done for the right eye owing to central corneal opacity. Neuhauser syndrome should be considered in the differential diagnosis of the patients with megalocornea, hypotonia and mental and motor retardation who have dysmorphic findings. To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously.
Clinical Dysmorphology 11/2006; 15(4):249-51. · 0.54 Impact Factor
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Pediatrics International 09/2006; 48(5):493 - 494. · 0.63 Impact Factor
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ABSTRACT: Children with Cerebral Palsy (CP) are generally undernourished and growth retarded than normal children. The reasons of malnutrition are not only due to poor nutritional status but also nonnutritional factors including negative neurotrophic effects and indirect factor such as immobility, endocrinological abnormalities or spasticity that energy requirements might be contributing factors. Several studies indicated that leptin which is produced by adipocytes, might regulate energy intake and expenditure. The aim of this study is to determine serum leptin levels in children with CP and to investigate the relationship between nutritional status and anthropometric measurements.
Forty children with CP and 18 healthy controls were included in this study. The weight, height, body mass index (BMI), upper arm length (UAL) and triceps skinfold thickness (TST) was measured in all children. Serum leptin, growth hormone, C-peptide and cortisol levels were studied. Based on TST measurement CP patients were divided as DSF group (decreased subcutaneous fat) and non-DSF group (nondecreased subcutaneous fat).
UAL were shorter and TST measurements were thinner than control group (p<0.05, p<0.01). Group DSF had lower leptin concentrations compared to Group non-DSF and controls (p<0.001, p<0.001). On the other hand non DSF group had higher leptin levels than controls (p<0.05). There was a positive and significant correlation between leptin and anthropometric measurements, especially TST in children with CP. Serum leptin levels were also lower in non-ambulatory children than ambulatory children with CP (p<0.05).
This study has shown that triceps skinfold thickness is better index for the evaluation of nutritional status in children with CP. Serum leptin levels were lower in CP, especially in DSF group. The possible explanation of this finding may not only related with malnutrition, but also immobility related other factors such as bone metabolism and spasticity. We concluded that leptin which regulates energy intake might have a role of nutritional disorders in cerebral palsy. To better understand this relationship further studies are needed.
Neuro endocrinology letters 09/2006; 27(4):507-12. · 1.30 Impact Factor
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ABSTRACT: Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.
Clinical Dysmorphology 02/2004; 13(1):53-5. · 0.54 Impact Factor
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ABSTRACT: The aim of this study was to make a retrospective descriptive analysis of the features of children with acute carbon monoxide poisoning (COP). We evaluated 74 children (43 girls, 31 boys; age range 1 to 17.8 years) who were consecutively admitted to our emergency unit and hospitalized with accidental acute COP between June 2003 and June 2005. All patients received normobaric oxygen therapy until their carboxyhemoglobin (COHb) levels were decreased below 2% and their symptoms resolved. Thirty-eight of 74 patients (51.4%) also received hyperbaric oxygen (HBO) therapy as indicated by signs and symptoms or COHb levels. COHb levels were significantly higher and hospitalization period was longer in the children who had abnormal neurological findings (p<0.05 for both). All patients showed complete recovery without neurological sequelae except one who had visual impairment at discharge, and antiepileptic therapy was started because of epilepsy after seven months. Acute COP is an important health problem in our country, especially in winter, because of poorly functioning heating systems. The clinical spectrum including neurological findings varies during childhood. We suggest that HBO therapy could be used safely in children.
The Turkish journal of pediatrics 50(3):235-41. · 0.44 Impact Factor
