Ayşe Kartal

Time dependent impact of perinatal hypoxia on growth hormone, insulin-like growth factor 1 and insulin-like growth factor binding protein-3

Hypoxic-ischemia (HI) is a widely used animal model to mimic the preterm or perinatal sublethal hypoxia, including hypoxic-ischemic encephalopathy. It causes diffuse neurodegeneration in the brain and results in mental retardation, hyperactivity, cerebral palsy, epilepsy and neuroendocrine disturbances. Herein, we examined acute and subacute correlations between neuronal degeneration and serum growth factor changes, including growth hormone (GH), insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) after hypoxic-ischemia (HI) in neonatal rats. In the acute phase of hypoxia, brain volume was increased significantly as compared with control animals, which was associated with reduced GH and IGF-1 secretions. Reduced neuronal survival and increased DNA fragmentation were also noticed in these animals. However, in the subacute phase of hypoxia, neuronal survival and brain volume were significantly decreased, accompanied by increased apoptotic cell death in the hippocampus and cortex. Serum GH, IGF-1, and IGFBP-3 levels were significantly reduced in the subacute phase of HI. Significant retardation in the brain and body development were noted in the subacute phase of hypoxia. Here, we provide evidence that serum levels of growth-hormone and factors were decreased in the acute and subacute phase of hypoxia, which was associated with increased DNA fragmentation and decreased neuronal survival.

Public awareness, knowledge, and practice relating to epilepsy among adults in Konya.

INTRODUCTION This study aimed to determine the familiarity with, knowledge of, misunderstandings, and attitudes toward epilepsy among a group of Turkish adults living in Konya, an urban city in central Turkey. METHODS By using an established familiarity-knowledge-attitudes practice questionnaire, 500 randomly selected adult residents of Konya were interviewed face-to-face. Demographic and sociocultural factors that predicted negative attitudes were determined. RESULTS More than half of all participants (68.4%) reported hearing or reading about epilepsy, 44% knew someone with epilepsy, and 42.2% had witnessed a seizure. The primary source of knowledge was via relatives and friends; Negative attitudes were about marriage and inability to live alone with epilepsy (63.2% objected to marriage and 84% objected to living alone). A preconception of epilepsy being a dangerous and lifelong disease was the primary reason for negative attitudes. Predictors of negative attitudes were female gender, lower educational status, and living in a rural area. CONCLUSION Negative attitudes regarding the marital status of patients with epilepsy still exist. These may stem from misconceptions about the cause and treatability of epilepsy.

Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria.

Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.

Primary intradural extraosseous Ewing’s sarcoma in a young child

Dear Editor: Ewing’s sarcoma/primitive neuroectodermal tumor (ES/ PNET) generally originates in the long bones of the extremities and the bones of the pelvis, rarely in soft tissues. Extraosseous Ewing’s sarcoma is uncommon extraskeletal form of Ewing’s sarcoma which is the most commonly reported locations in the soft tissue of the lower extremities and paravertebral region, but the incidence of primary spinal intradural extraosseous Ewing’s sarcoma is extremely rare [1]. Herein, we describe a rare case of primary intradural extraosseus Ewing sarcoma in a young boy who presented with progressive low back pain and sphincter dysfunction. A previously healthy 5-year-old boy was referred to the Pediatric Neurology Department by his pediatrist for evaluation, because of progressive low back pain, gait disturbance, and constipation for nearly 1 month before admission. Neurological examination revealed bilateral increased deep tendon reflexes of the patella and Achilles, and bilateral Babinski sign was present. The patient had no sensory or motor deficit and his muscle tone was normal. All other findings on general examination were normal. Laboratory investigations showed normal values of blood counts, liver, and renal functions. Magnetic resonance imaging of whole spine showed intradural extramedullary enhancing mass lesion at the level from T4 to T7, with severe causing compression of the spinal cord. The mass appeared hypointense on T1-weighted images and hyperintense on T2-weighted images with heterogeneous contrast enhancement after injection of gadolinium (Fig. 1). Computed tomography (CT) showed no osteolytic or osteosclerotic change in vertebral bone. Meningioma or osteoblastoma was suspected. An urgent laminectomy at T4 to T7 and total resection of the tumor were performed.

The effects of risk factors on EEG and seizure in children with ADHD

Attention-deficit hyperactivity disorder (ADHD) is one of the most commonly seen developmental disorders in childhood. Its etiology, however, is not well known even though bio-psycho-social reasons have been thought to play a big role. The aims of this retrospective study are to identify the risk factors of ADHD in patients diagnosed with ADHD in childhood, analyze the relationship between clinical symptoms and risk factors to which they were exposed and determine their effects on prospective electrophysiological findings. Longitudinal cohort study of all children with ADHD treated at Ankara University Medical University during 2007–2012, with follow-up to ascertain risk factors and seizure and EEG abnormalities outcome. Multinominal univariate logistic regression analysis was used to calculate adjusted risk ratios (RRs) and 95% confidence intervals (CIs) for associations. Epileptiform discharges were found in 32 (22.9%) of the 140 ADHD patients. Of these, 71.9% had focal epileptiform discharges and 28.1% had generalized epileptiform discharges. The focal epileptiform discharges were most prevalent from the rolandic area. Among the 140 patients, 20 (14.3%) had a previous history of seizure, and all twenty had epileptiform discharges on EEG whereas none of the patients who had normal EEG had a seizure history. The rates of epileptiform discharges were significantly related to gestational age and asphyxia (RR: 1.8, 95% CI 0.3, 9.3; RR: 9.6, 95% CI 2.3, 40, respectively), whereas the rates of epilepsy were related to asphyxia but not gestational age. History of asphyxia and prematurity do seem to increase the risk of EEG abnormality in patients with ADHD. Modification of these environmental risk factors by evidence-based prevention programs may help to decrease the burden of ADHD.

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?

Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test. We emphasized that these findings may serve as possible initial presentations of MPS IIIA; therefore, screening for MPS should be done in all patients with unexplained psychomotor retardation and progressive hyperactivity.

Subacute Sclerosing Panencephalitis in a Child with Recurrent Febrile Seizures

Subacute sclerosing panencephalitis (SSPE) is a devastating disease of the central nervous system (CNS) caused by persistent mutant measles virus infection. The diagnosis of SSPE is based on characteristic clinical and EEG findings and demonstration of elevated antibody titres against measles in cerebrospinal fluid. Subacute sclerosing panencephalitis can have atypical clinical features at the onset. Herein, we report an unusual case of subacute sclerosing panencephalitis in a child with recurrent febrile seizures. The disease progressed with an appearance of myoclonic jerks, periodic high amplitude generalized complexes on EEG, and elevated titers of measles antibodies in cerebrospinal fluid leading to the final diagnosis of subacute sclerosing panencephalitis.

Occult disseminated tuberculosis with holocord longitudinally extensive transverse myelitis: A rare phenomenon in a child

Longitudinally extensive transverse myelitis (LETM) is defined as an inflammatory lesion of the spinal cord that extends to three or more segments. LETM is a commonly characteristic feature of neuromyelitis optica (NMO) or various autoimmune diseases. Manifestation of Mycobacterium tuberculosis (MTB) infection with LETM are rare and usually in the cervicothoracic spinal cord. Our patient presented with holocord LETM, so NMO was considered initially diagnosis. After in further research, MTB was diagnosed and treated successfully. The current case underscores that tuberculosis must be keep in mind when undertaking differential diagnosis of demyelinating diseases even in the absence of symptoms of infection, and especially in endemic regions.

Mucopolysaccharidosis IIIA presenting with hyperckemia in a child.

Mucopolysaccharidosis (MPS) type III or Sanfilippo syndrome, is an autosomal recessive metabolic disorder characterized by accumulation of the glycosaminoglycan heparan-sulfate. MPS III is classified under four different subtypes including A, B, C, D based on the deficiency of a specific enzyme in the degradation of heparan sulfate. Type IIIA is the most common subtype [1]. Unlike other mucopolysaccharide disorders, the patients have little somatic features or skeletal changes and so it remains underdiagnosed as a cause of developmental delay both in children and adults [2]. We report a rare case of unexpected MPS IIIA which was diagnosed in a pediatric patient.

Two Different Life-Threatening Cases: Presenting with Torticollis

Acquired torticollis can be the result of several different pathological mechanisms. It is generally related to trauma, tumors, and inflammatory processes of the cervical muscles, nerves, and vertebral synovia. Although upper respiratory tract and neck inflammation are common causes of acute febrile torticollis in children, diseases with as yet undefined relationships may also result in torticollis. This is the case of spinal arachnoid cyst and pneumonia.