Metoclopramide-Induced Acute Dystonia: Data From a Pediatric Emergency Unit.

OBJECTIVES: Metoclopramide is a commonly used medication in pediatric practice, and dystonia is a common adverse effect of it. The present study aims to evaluate the clinical characteristics of metoclopramide-induced acute dystonic reactions (MIADRs) in pediatric patients admitted to the pediatric emergency unit. METHODS: Twenty-eight patients were admitted with MIADRs between June 2004 and April 2016; they were enrolled into the study retrospectively. RESULTS: The study group was composed of 13 females and 15 males with the mean ± SD age of the females higher than that of the males, 12.3 ± 4.5 and 7.8 ± 4.3 years, respectively. Only 9 (32.1%) of the patients were diagnosed as MIADRs at the time of admission. Seventeen patients (60.7%) received over the recommended daily dose of metoclopramide. Dystonia was focal in most of the patients, with the most affected parts consisting of the neck, eyes, and orolingual regions. In 9 of the patients, the dystonia was episodic in nature. Pharmacological treatment was used for 18 patients. No patients died, and none suffered long-term injury related to MIADRs. CONCLUSIONS: Metoclopramide administration may be associated with the occurrence of acute dystonic reaction. Metoclopramide-induced acute dystonic reactions may be misdiagnosed, so detailed medical history gathering and a high index of suspicion are warranted. Our data suggest that MIADRs may be dose related and that there may be age- and sex-related differences in the epidemiology of MIADRs.

Evaluation of hypercoagulability state in perinatal arterial ischemic stroke with rotation thromboelastometry.

BACKGROUND: Perinatal arterial ischemic stroke (PAIS) is an important cause of pediatric morbidity and mortality. The etiology of PAIS remains unknown. Several maternal-neonatal disorders, and especially prothrombotic risk factors, have been reported in infants with perinatal stroke (PS). Rotation thromboelastometry (ROTEM) can analyze the coagulation system, from the beginning of coagulation, through clot formation, and ending with fibrinolysis. The aim of this study was to evaluate the hypercoagulability state in PAIS patients using ROTEM. METHODS: Patients were obtained by evaluating hospital files retrospectively. Twenty patients with PAIS and 19 healthy controls were included in the study. Prothrombotic risk factors and standard coagulation parameters were collected for all patients. Thromboelastometry (TEM) analysis was performed with the ROTEM® Coagulation Analyzer model Gamma 2500 (Tem International, Munich, Germany). Patients were separated into two groups; Group 1 included PAIS patients with prothrombotic risk factors and Group 2 included patients with no prothrombotic risk factors. RESULTS: Group 1 includes six patients and Group 2 includes fourteen. Maternal risk factors were reported in 55 % and prothrombotic risk factors were detected in 30 % of the patients. ROTEM analyses were done mean age of 11.2 ± 9.4 months. ROTEM analysis showed that maximum clot firmness (MCF) value on both groups was significantly higher than in the control group, which is consistent with a hypercoagulable state. There was no statistical difference between the MCF values of Group 1 and Group 2. No significant correlations were found between the ROTEM parameters and the hematological parameters. CONCLUSION: The etiology of PAIS is still unclear. Prothrombotic risk factors may be an important etiology for PAIS. However, standard hematological tests for evaluating prothrombotic risk factors are limited. In our study, ROTEM analyses showed higher maximum clot firmness in PAIS patients compared to controls. ROTEM analyses may suggest a hypercoagulable state due to abnormal fibrinolysis in PAIS patients. Normative data and further research is needed to validate our findings.

Ptosis during hematologic malignancy in children.

Neurological symptoms such as ptosis may develop due to either chemotherapeutic agents or involvement of the central nervous system (CNS) during hematologic malignancy. It is difficult to make this distinction according to clinical symptoms and magnetic resonance imaging findings. If the neurologic symptoms are increased, it is a warning of CNS involvement. Herein are described the clinical and neuroimaging features of three patients with hematologic malignancy who presented with ptosis.

Breath holding spells: point prevalence and associated factors among Turkish children.

BACKGROUND: 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. METHODS: This study was performed in Turkey's Eskisehir province. A total of 1000 randomly selected 0-6-year-old children were invited to family health centers. A specific questionnaire was given to parents. Children who had a history BHS were referred to the hospital to for investigation of medical history and neurological examinations. RESULTS: A total of 933 children participated and were included in analysis. Thirty-four children (3.6%) had had BHS. Children's birthweight, parent consanguinity and mothers' education status significantly affected the frequency of BHS. Increase in birth sequence decreases the risk of BHS 0.65-fold. Fathers' education status also affected the prevalence of BHS, with the risk of BHS being 0.39-fold less if the father had completed high school or some higher education. And, as the age of the fathers increased, the risk that their children would have BHS was 1.14-fold higher. CONCLUSIONS: Although the calculated prevalence rate was compatible with previous studies, positive family history for BHS, birth sequence, parents' education status and fathers' age were identified as risk factors associated with BHS.

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.

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

PURPOSE: Neurofibromatosis-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. METHOD: Sequence 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. RESULT: Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations. CONCLUSION: We 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.

Serum asymmetric dimethylarginine (ADMA), homocysteine, vitamin B(12), folate levels, and lipid profiles in epileptic children treated with valproic acid.

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.

Analysis of the features of acute carbon monoxide poisoning and hyperbaric oxygen therapy in children.

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.

Serum leptin levels in children with cerebral palsy: relationship with growth and nutritional status.

AIM: 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. METHODS: 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). RESULTS: 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). CONCLUSION: 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.

Neuhauser syndrome and Peters' anomaly.

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.

Seckel syndrome associated with atrioventricular canal defect: a case report.

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 and Neuroimaging Findings of Sydenham's Chorea.

OBJECTIVE: Sydenham's chorea (SC) is thought to be an autoimmune disorder. MRI is generally used to exclude other causes of chorea. There are no typically defined MRI features of SC. In this study we aimed to determine clinical and neuroimaging findings of SC. METHODS: In this study 17 patients with acute SC were retrospectively evaluated. Sydenham's chorea was diagnosed according to the 1992 revision of the Jones criteria. The other causes of chorea were excluded. Cranial MRI was performed in all patients during the acute phase of SC. Walking, speech and swallowing disorders, muscle weakness, behavioral disorders, treatment, symptom recovery time and recurrence were evaluated. Findings : The patients' mean age was 11.2 years. Behavioral changes, muscle weakness and dysphagia occurred in 70%, 64% and 23% of the patients, respectively. Nonspecific signal hyperintensities were observed in the white matter, brain stem and caudate nucleus in 47% of patients. Two patients who had chorea paralytica were treated successfully with a high dose of intravenous methylprednisolone. CONCLUSION: Nonspecific hyperintense white matter abnormalities may be due to the inflammatory process associated with a longer duration of clinical signs. To explain the MRI findings and the pathogenesis of SC, comprehensive studies are needed.

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.

Mycoplasma pneumoniae infection with neurologic complications.

BACKGROUND: Extrapulmonary complications of Mycoplasma pneumoniae (M. pneumoniae) infection include encephalitis, optic neuritis, acute psychosis, stroke, cranial nerve palsies, aseptic meningitis and also it may be implicated in immune mediated neurological diseases such as acute demyelinating encephalomyelitis, Guillain-Barre syndrome and transverse myelitis. CASE PRESENTATION: We present five cases with acute neurological diseases after M. pneumoniae infection. The clinical presentations were characterized by encephalitis in 2 patients, Gullain-Barre syndrome in 2 patients, transverse myelitis in 1 patient. M. pneumoniae infection was detected in serum by serological method. Only two patients had respiratory symptoms preceding M. pneumoniae infection. Brain MRI revealed hyperintensities on corpus striatum and mesencephalon in one patient with encephalitis, the other had front parietal coalescent periventricular white matter lesions on T2 images. The patient with transverse myelitis had cervical, dorsal and lumbar scattered hyperintense lesions on T2 images. Two patients were treated with high dose steroid, the other two patients received treatment with intravenous immune globuline. CONCLUSION: M. pneumoniae may reveal different neurologic complications with different radiologic findings.

Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case.

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.

Marcus Gunn jaw winking synkinesis: report of two cases.

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.

Nominal dysphasia and euphoria caused by EBV encephalitis.

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.

Essential palatal tremor treated with botulinum toxin.

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.