Ayse Aksoy

Neurologic Manifestations of Novel Influenza A (H1N1) Virus Infection in Childhood

The neurologic manifestations and prognoses of a novel influenza A (H1N1) virus infection in previously healthy children were evaluated. Nose and throat swabs were retrieved from all patients who met the criteria of influenza-like illness. A real time reverse-transcriptase polymerase chain reaction assay was used to confirm the novel influenza A (H1N1) virus. This viral infection was evident in 240 children between October 10 and December 22, 2009. Neurologic findings were evident in 17 (7.08%) patients, aged between 4 months and 8 years. Nine were boys. Five patients manifested simple febrile seizures, seven manifested complex febrile seizures or additional afebrile seizures, and three manifested encephalopathy. Febrile status epilepticus and flaccid paralysis were diagnosed in one patient each. All were treated with oseltamivir. Fifteen of 17 patients demonstrated complete recovery. One undergoing follow-up with a diagnosis of Guillain-Barré syndrome manifested sequelae. One patient died because of septic shock and disseminated intravascular coagulation. We suggest that neurologic manifestations occur quite often in children aged less than 5 years with novel influenza A (H1N1) virus infection. Most infections were benign, although a severe course is possible, and sequelae may be encountered.

The effects of antiepileptic drugs on the relationships between leptin levels and bone turnover in prepubertal children with epilepsy

Abstract Antiepileptic drugs (AED) had an effect on bone metabolism in children. This study was conducted in order to determine the relationships between serum leptin levels, bone mineral density (BMD) and bone turnover markers in epileptic children. Fifty-three patients were treated with valproic acid (VPA) and 23 with carbamazepine (CBZ) monotherapy; 50 healthy children were included in the study as controls. Serum alkaline phosphatase (ALP) and cross-linked C-telopeptide (CTx) levels were statistically signifi cantly higher in the CBZ group than in the VPA group and the control group (p<0.0001, p<0.010, respectively). Serum osteocalcin and ALP levels were signifi cantly lower in the VPA group than in the control group (p<0.012, p<0.030, respectively). Although we found slightly higher serum leptin levels in both the CBZ and VPA groups, they were not signifi cantly different from the control group (P>0.05). We demonstrated that the markers of bone formation and resorption increased with CBZ and decreased with VPA treatment without affecting BMD and vitamin D levels in prepubertal epileptic children.

The effects of topiramate and valproate therapy on insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin, and resistin levels in children with epilepsy

PURPOSE Antiepileptic drugs may affect the endocrine system. We investigated the effects of valproic acid and topiramate on the levels of insulin, c-peptide and adipocytokines in pre-pubertal patients with idiopathic partial and generalized epilepsy. METHODS Forty-one children with epilepsy were included. The patients were divided into two groups (valproic acid; n = 21, topiramate; n = 20). The weight, height, body mass index and homeostasis model assessment of insulin resistance (HOMA-IR) were recorded and insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin and resistin levels were determined at 0, 6 and 12 months of therapy. RESULTS In the valproate group, weight and height increased significantly. Seven of 21 patients were overweight at the end of one year. Leptin was higher in the overweight subgroup. Although insulin and HOMA-IR increased (p < 0.05), none of the patients showed hyperinsulinism or IR. Resistin had decreased at the 6th and 12th months (p < 0.05). In the topiramate group, some statistically nonsignificant changes were demonstrated. CONCLUSION The mechanisms behind valproate and topiramate-related weight control are still unclear, especially in children. Valproate and topiramate affect the weight, BMI, and insulin, leptin and adipocytokine levels in prepubertal children. We suggest that further studies including more patients with a long follow-up period are necessary to draw a firm conclusion regarding an association between the treatment with these drugs and the levels of leptin, insulin and adipocytokines.

Report of the first case of precocious puberty in Rett syndrome.

Abstract Rett syndrome is an X-linked dominant disorder frequently caused by the mutations in the methyl-CpG-binding protein 2 gene (MECP2). Its prevalence in the population is 1/15,000–20,000. Patients with Rett syndrome present apparently normal psychomotor developments during the first 6–18 months of life. Subsequently, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. Precocious puberty is characterized by premature breast and pubic hair development, and advanced bone age development at 8 years of age. We present a case of Rett syndrome and precocious puberty in a 6-year-old girl. At the age of 6, the first signs of precocious puberty appeared (Tanner stage 3). Laboratory measurements were detected as follows: luteinizing hormone (LH), 0.2 mIU/mL; follicle-stimulating hormone (FSH), 1.1 mIU/mL; estradiol, 36 pg/mL; bone age, 9 years. The response to luteinizing hormone releasing hormone (gonadotropin-releasing hormone stimulation test) was characteristic for true precocious puberty (LH, 32 mIU/mL; FSH, 26 mIU/mL). This is the first reported case of precocious puberty related to Rett syndrome.

The association of anti-glutamic acid decarboxylase antibodies with different neurological findings in childhood

Glutamic acid decarboxylase antibodies can rarely be associated with various neurological syndromes, which are usually present in adults. Here, we present 2 affected children. Our first patient had a diagnosis of epilepsy and presented with continuous involuntary movements and multifocal myoclonic seizures following an infection at the age of 9 months. Anti-glutamic acid decarboxylase antibodies were found in the serum and cerebrospinal fluid. A partial response was obtained from intravenous immunoglobulin, steroid, and plasmapheresis treatment. The other patient presented with a clinical picture of acute cerebellar ataxia and mutism at the age of 6 years and recovered fully following intravenous immunoglobulin treatment. Neurological findings due to anti-glutamic acid decarboxylase antibodies may be more common in children than previously thought, and achieving an early diagnosis can be important for prompt treatment.

A multinational survey on actual diagnostics and treatment of subacute sclerosing panencephalitis

Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by the measles virus (MV). Its prevalence remains high in resource poor countries and is likely to increase in the Northern Europe as vaccination rates decrease. Clinical knowledge of this devastating condition, however, is limited. We therefore conducted this multinational survey summarizing experience obtained from more than 500 patients treated by 24 physicians in seven countries. SSPE should be considered in all patients presenting with otherwise unexplained acquired neurological symptoms. In most patients, the diagnosis will be established by the combination of typical clinical symptoms (characteristic repetitive myoclonic jerks), a strong intrathecal synthesis of antibodies to MV and typical electroencephalogram findings (Radermecker complexes). Whereas the therapeutic use of different antiviral (amantadine, ribavirin) and immunomodulatory drugs (isoprinosine, interferons) and of immunoglobulins has been reported repeatedly, optimum application regimen of these drugs has not been established. This is partly due to the absence of common diagnostic and clinical standards focusing on neurological and psychosocial aspects. Carbamazepine, levetiracetam, and clobazam are the drugs most frequently used to control myoclonic jerks. We have established a consensus on essential laboratory and clinical parameters that should facilitate collaborative studies. Those are urgently needed to improve outcome.

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center

BACKGROUND Nonketotic hyperglycinemia (NKH) is an autosomal recessive severe life-threatening catostrophic metabolic disorder. MATERIALS AND METHODS The present study was conducted in a tertiary reference center in Turkey for six years period. The accurate diagnosis of six NKH patients was based on clinical history of the patients, neurological examinations, seizure semiology, serial electroencephalography (EEG) recordings, neuroimaging findings, metabolic tests and genetic analysis. RESULTS The common clinical findings were hypotonia with severe head lag, poor feeding, poor sucking, and intractable seizures. The starting age of the symptoms was between birth and 45 days of age (median: 8 days). The starting age of the seizures was between 30 min of age and 45 days of age (median: 18 days). The age of accurate diagnosis was between 1 month of age and 5.5 months of age (mean: 3.75 ± 1.69 months). The cerebrospinal fluid (CSF) to plasma GLY ratio of the patients was between 0.031 and 0.21 (median: 0.16). The EEG patterns of the patients were suppression-burst, hypsarrhythmia, multifocal epileptic activity, and right centro-occipital epileptic activity on admission. The neuroimaging findings were diffuse hypomyelination, corpus callosum (CC) hypoplasia, CC agenesis and brainstem hypoplasia on the magnetic resonance imaging and glycine peak was evidenced on magnetic resonance spectroscopy. Four of the patients were mutation-positive. CONCLUSIONS If a child is encephalopathic and/or hypotonic with severe head lag, early evaluation of the EEG records should be made even without a history of clinical seizures. The disease has a heterogenous course and the clinical outcome depends on the mutation type.

Ophthalmological Findings of Turkish Children With Muscular Dystrophies

PURPOSE To present the results of ophthalmological examinations in children with muscular dystrophies and highlight the importance of their ophthalmological evaluation. METHODS Retrospective analysis of the ophthalmological examination records in 74 children with a type of muscular dystrophy, examined between January 2011 and January 2015, was performed. RESULTS The most common type of muscular dystrophy observed in our patients was Duchenne muscular dystrophy (67.5%), followed by Becker muscular dystrophy (9.4%), myotonic dystrophy (8%), limb-girdle muscular dystrophy (6.7%), merosin-negative muscular dystrophy (4%), and Ullrich muscular dystrophy (4%). Ten cases of Duchenne muscular dystrophy had both macular and retinal pigmentary changes (20%) and 9 had abnormal electroretinographies with decreased photopic and scotopic responses. Ptosis was the most common finding (83.3%). No abnormalities of light reflexes, pupil size, or saccadic and smooth pursuit movements were seen among cases with myotonic dystrophy. CONCLUSIONS Ophthalmological problems are commonly seen in children with muscular dystrophies. Simple ophthalmological screening and early intervention can improve their communication skills by way of increasing their visual talents.

Bilateral Optic Neuritis—The Only Ocular Finding in a Case of Subacute Sclerosing Panencephalitis

Abstract Subacute sclerosing panencephalitis is a rare disease of central nervous system caused by defective measles virus. Chorioretinitis with macular involvement is the mostly observed ocular finding in the disease. Other reported ocular findings in the disease are cortical blindness, hemianopsia, nystagmus, extraocular muscle paresis and optic atrophy. We present a rare case of subacute sclerosing panencephalitis with isolated bilateral optic neuritis as the only ocular finding without macular involvement.