Sevim Şahin

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings. While the older brother had hypotonia and delayed developmental milestones, the younger brother had seizures and spasticity in the lower extremities. Brain magnetic resonance imaging (MRI) findings were quite similar for the two siblings. MRI findings were specific to LTBL. MRI lesions of the older sibling had regressed over time. Clinical and radiological improvement, as in the previously reported patients with LTBL, may be an important clue for diagnosis.

Comparison of the serum cytokine levels before and after adrenocorticotropic hormone (ACTH) therapy in patients with infantile spasm

PURPOSE Infantile spasm is an age-dependent epileptic syndrome seen in infancy or early childhood. Although studies have investigated the epilepsy-cytokine relationship, there has been insufficient research into the relation between cytokines and infantile spasm. The purpose of this study was to examine the role of cytokines in the pathogenesis of infantile spasm by investigating cytokine levels before and 1month after adrenocorticotropic hormone (ACTH) therapy in patients diagnosed with the condition. METHOD Twenty patients aged between 1month and 2years and diagnosed with infantile spasm at the Karadeniz Technical University Medical Faculty Department of Child Health and Diseases Pediatric Neurology Clinic, Turkey, and 20 healthy children were included in the study. Patients received 11 doses of ACTH on 2days a week. Levels of TNF-alpha and IL-2, the main cytokines involved in inflammation and recently associated with infantile spasm, and of IL-1beta, IL-6 and IL-17A, associated with epileptic seizures, and serum levels of the IL-17A activator IL-23 were investigated in all patients at the start of treatment and 1month after completion of treatment. RESULTS No statistically significant difference was observed between pre- and post-treatment patient group and control group IL-1beta, IL-2, IL-23 or TNF-alpha levels. Pre-treatment IL-6 and IL-17A levels were significantly higher in the untreated patient group compared to the healthy control group (p<0.001 and p=0.002). CONCLUSION Our study supports the recent idea that IL-6 and IL-17A are cytokines involved in the pathogenesis of infantile spasm.

A New Alternative Drug With Fewer Adverse Effects in the Treatment of Sydenham Chorea: Levetiracetam Efficacy in a Child.

Levetiracetam (LEV) efficacy in the treatment of chorea in Huntington disease, paroxysmal nonkinesigenic dyskinesia, paroxysmal kinesigenic choreoathetosis, and dyskinetic cerebral palsy was reported in some studies. We described a case of a child with Sydenham chorea treated with LEV. A 7.5-year-old male patient presented with chorea, orofacial dyskinesia, speech impairment, and irritability. Echocardiographic examination revealed mitral insufficiency. Sydenham chorea was diagnosed after excluding other diseases causing chorea. Although his choreiform movements were decreased substantially with haloperidol treatment, speech impairment, orofacial dyskinesia, and light chorea were continued. Therefore, on day 9, LEV was added, and his complaints resolved in a few days. The severity of the chorea according to the Universidade Federal de Minas Gerais Sydenhams Chorea Rating Scale decreased from 47 to 5 points after LEV treatment. Thus, on day 13, the dose of haloperidol was reduced and gradually discontinued within 4 days. Symptoms did not reoccur. The follow-up at 1.5 months revealed recurrence of complaints due to discontinuation of LEV by parents. Signs and symptoms were regressed completely within 1 week after LEV retreatment. We suggest that LEV with fewer adverse effects comparing to other drugs may be considered to be a good alternative in the treatment of Sydenham chorea.

The Effects of Antiepileptic Drugs on Complete Blood Cell Counts in Children with Epilepsy

Objective: Since antiepileptic drug use is long-term, it may be important to know their effects on blood cell counts during the management of these patients. However, these effects have not been adequately evaluated in epileptic children. In our study, the effects of valproate, levetiracetam and carbamazepine on complete blood counts were assessed in children. Material and Methods: Material and methods: Consecutive epilepsy patients under monotherapy were reviewed retrospectively. Eighty patients, whose data were available before the treatment and at 2-6 months and 9-16 months after treatment initiation were included in the study. The ages at the start of the treatment were taken into consideration. Hemoglobin, hematocrit, erythrocyte, platelet and leucocyte counts, leukocyte subset percentages and the mean volume and distribution width of the erythrocytes and thrombocytes were recorded. Results: There were no statistically significant differences between the levels at pre-treatment and at 2-6 and 9-16 months after treatment initiation in the patients treated with levetiracetam (n=25) and carbamazepine (n=20). In the valproate group (n=35), there was an increase in mean corpuscular volume and monocyte percentage, and a decrease in platelet counts, in the first six months (p=0.015, p=0.001, p=0.005, respectively). At 9-16 months, the lymphocyte percentage increased while the neutrophil and eosinophil percentages decreased (p=0.016, p=0.014, p=0.01, respectively) in this group. Conclusion: In our study, valproate caused an increase in the percentage of lympho-monocytes and mean corpuscular volume, and a decrease in the platelet count, neutrophil and eosinophil percentages. These effects seem to be related to the fact that valproate is a histone deacetylase inhibitor.

Neurological Involvement in Pediatric Hemolytic Uremic Syndrome: A Symptom-Oriented Analysis

Background Neurological involvement is common in hemolytic uremic syndrome (HUS), but each neurological symptom may be due to a variety of factors. Objective We aimed to evaluate predisposing factors to the neurological symptoms in HUS. Materials and Methods The 10‐year follow‐up data on HUS patients were retrospectively analyzed. Statistical comparisons were made across subgroups based on age and neurological symptoms. Results The neurological involvement rate was 37.5%. The female‐to‐male ratio increased in patients with neurological involvement (3.8 vs. 1.37). Regarding all HUS patients, hemoglobin levels were higher in patients with paresis. The rate of paresis was twofold higher in patients with a hemoglobin level above 11 g/dL (p < 0.05). In diarrhea‐associated HUS patients, D‐dimer and C‐reactive protein levels were higher in patients with paresis, and leukocyte counts were higher in patients with seizures. Patients with altered consciousness had higher creatinine levels. The survival rate was significantly lower in patients with a reticulocyte percentage of less than 2% (50 vs. 100%). Conclusion Results of our study indicate that neurological involvement depends on overall findings in HUS. A symptom‐oriented approach, which is different from that employed in previous studies, reveals some clues to the pathogenesis and management of these patients.

Global aphasia without hemiparesis may be caused by blunt head trauma: An adolescent boy with transient aphasia

Global aphasia without hemiparesis is a rare condition often associated with embolic stroke. Posttraumatic causes have not been reported, in the literature, to our knowledge. We report a 15-year old boy with transient global aphasia without hemiparesis due to blunt head trauma. In our case, clinical findings occurred 1week later following head trauma. Emergence of the symptoms after a period of the first mechanical head trauma, draws attention to the importance of secondary process in traumatic brain injury.

Chiasmal optic neuritis may be secondary to pneumococcal meningitis: a child with acute monocular vision loss

Chiasmal optic neuritis is a rare clinical syndrome with acute loss of vision with a chiasmal visual field pattern and/ or radiological evidence of chiasmal inflammation [1]. Systemic diseases such as sarcoidosis, systemic lupus erythematosus and infectious diseases such as tuberculous and Lyme disease should be considered in the differential diagnosis [1, 2]. Furthermore, it may be the initial finding of multiple sclerosis or neuromyelitis optica [2]. To the best of our knowledge, chiasmal optic neuritis as a complication of pneumococcal infection has not previously been reported in the English literature. Herein, we described a paediatric case with pneumococcal meningitis. A 12-year-old male patient presented with headache, fever, and vomiting that had lasted for 2 days. His past medical and family histories were unremarkable. At admission, his vital signs were within normal limits. His body temperature was 36 C. He had a heart rate of 96 beats/min, a respiratory rate of 24 breaths/min, and a blood pressure of 100/60 mmHg. He was conscious and oriented, but had neck stiffness and other signs of meningeal irritation. Other neurological, general physical and funduscopic examinations for the patient were normal. His laboratory examinations showed an elevated leukocyte count (36,200/ mm), C-reactive protein (15.6 mg/dL) and erythrocyte sedimentation rate (96 mm/h). Cerebrospinal fluid (CSF) examination revealed [1000/mm leukocytes (consisting of neutrophils), elevated protein levels (482.9 mg/dL) and a low glucose level (11.5 mg/dL, with a concurrent blood glucose level of 156 mg/dL); this was suggestive of purulent meningitis. We initiated the treatment with ceftriaxone, vancomycin and dexamethasone. Because of continuous severe headaches, ceftriaxone was replaced with meropenem on the 2nd day of the treatment. Streptococcus pneumoniae was isolated in the CSF culture. The test for acid fast bacilli in CSF was negative. After assessing the sensitivity of the antibiotics based on an antibiogram, the same antibiotics were continued for 14 days. On the 2nd day of follow-up, sudden visual loss occurred in his right eye. There was no information regarding any local pain or new local or generalised findings, except continuing headaches. The direct response to light was poor in his right eye, and a ‘Marcus Gunn pupil’ was present. The funduscopic examination was normal. However, there was no light perception on visual acuity examination of his right eye. There was no visual problem in his left eye, and the visual acuity of the left eye was greater than counting fingers at 5 m when evaluated at the bedside. The patient’s visual fields could not be assessed because of the lack of vision in the right eye. The orbita and brain magnetic resonance imaging (MRI) were normal. On the 5th day after the monocular visual loss, the patient displayed some clinical improvement in the right eye when he developed light perception. On the 7th day, the visual acuity was measured at 20/800. On the 8th day, a perimetric visual field test revealed a temporal hemianopia in the right eye, although the patient was not completely cooperative with the test (Fig. 1). On the 11th day, a repeat MRI revealed thickening and central contrast enhancement & Sevim Şahin sevimsahin1@yahoo.com

Is Sinusitis Innocent?– Unilateral Subdural Empyema in an Immunocompetent Child

Subdural empyema related to Streptococcus constellatus is extremely rare in an immunocompetent child, and also there is no reported case along with Staphylococcus lugdunensis infection. Although Streptococcus constellatus has been determined as a co-pathogen with anerobic bacteria in many infections, it has not been reported in combination with Staphylococcus lugdunensis. The authors describe a case of previously healthy 16-y-old child with unilateral subdural empyema due to these bacteria. Sinusitis was the only predisposing factor in the index case. The authors propose that some cases of culture-negative intracranial infections may be due to these infectious agents. Therefore, these agents should be considered as causes of intracranial infection in persistent complaints such as fever and headache after sinusitis in children. It is important to treat them with effective antibiotics and early surgical intervention for favorable outcome, because fatal cases were reported due to Streptococcus constellatus infections.

P201 – 2862: Tetraparesis secondary to superior sagittal sinus thrombosis related antithrombin III deficiency in a child

Objective Cerebral venous infarction is rare comparing to arterial occlusion. Antithrombin III deficiency can lead to deep vein thrombosis in early adulthood, but is rare as a cause of cerebral infarction. Herein a pediatric case with acute tetraparesis was presented because of improvement within 3 weeks. Methods The case was presented. Results A 15-year-old girl was referred to our hospital with the complaints of tetraparesis and dysarthria developed within 1 day following left hemiparesis. Her vital signs were normal, but drowsiness, tetraparesis and bilateral Babinskis sign were present. His muscle strength was1/5 in the distal and proximal of the extremities. In laboratory examination, except anemia and increased D-dimer, other biochemical, hematological and blood gas analysis were normal. Brain magnetic resonance (MR) imaging showed venous infarction in the bilateral frontal regions. MR venography revealed thrombosis in the superior sagittal sinus and cortical veins. Enoxaparin and acetylsalicylic acid were initiated. Dexamethasone, mannitol and furosemide were added for 5 days. Oral iron supplementation was given for iron deficiency anemia. The consciousness returned to normal in the second day, and dysarthria disappeared in the 4th day. Motor movement began in the hands at the end of the first week, and later muscle strength was 4–5/5 in the whole upper extremities within 1 week. The next week, motor movement began in the lower extremities and reached full recovery within one week. At the end of the 3 weeks, she began walking with assistance and later without assistance in a few days. Antithrombin III levels were decreased in repeated controls. Conclusion Increased intracranial pressure and alteration in vascular supply may lead to the ischemic and hemorrhagic lesions in cerebral sinus-vein thrombosis (CSVT). It may be thought that venous infarction, even with large parenchymal changes, may show good outcome, especially in the patients with well controlled intracranial pressure.