Cahide Yilmaz

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation.

Clinical Outcome and Magnetic Resonance Imaging Findings in Infants With Hypoglycemia

The authors examined clinical outcome and cranial magnetic resonance imaging (MRI) findings in infants with hypoglycemia to determine the effects of hypoglycemia on the developing brain. A total of 110 infants with hypoglycemia were included in the study. Of the patients, 36 were females and 74 were males. The age of the infants was between 1 day and 22 months. Of the 110 infants, 47 were preterm neonates, 40 were term neonates, and 23 were older than 28 days. No difference in serum glucose level was noted between symptomatic and asymptomatic infants. The most common observed abnormal findings were hyperintense lesions, encephalomalacia, and cerebral atrophy. Abnormal MRI findings were found in 4% of preterm infants, in 32.5% of term infants, and in 43.5% of older infants. Abnormal MRI findings were statistically significantly more common in symptomatic infants than in asymptomatic infants. Of the infants, 45.5% of hypoglycemic infants had cerebral palsy and/or cerebral palsy plus epilepsy.

INTRACRANIAL HEMORRHAGE DUE TO VITAMIN K DEFICIENCY IN INFANTS: A CLINICAL STUDY

The hospital records of 30 infants with a diagnosis of intracranial hemorrhage (ICH) due to late onset of vitamin K deficiency, seen during a 5-year period (2001–2005) were retrospectively evaluated. Signs and symptoms of the patients were convulsions (80%), poor sucking (50%), irritability (40%), vomiting (47%), acute diarrhea (33%), and fever (40%). On physical examination there were bulging or full fontanel in 19 patients (63%), collapsed fontanel in one (3%), diminished or absent neonatal reflexes in 11 (37%), pallor in 14 (47%), and cyanosis in one (3%) patient. Gastrointestinal disorder, skin hemorrhagic findings, and epistaxis each were noted in two (7%) patients. All the infants had prolonged prothrombin time (PT) and seven had prolonged activated partial thromboplastin time (APTT), both of which were corrected by the administration of vitamin K. All the infants had ICH, with the most common being intraparenchymal hemorrhage, followed by multiple type ICH (27%). Neurosurgical intervention was performed in five patients (17%). The overall case fatality rate was 33%. In conclusion, we would like to stress that ICH due to vitamin K deficiency in infants is still an important health problem in Turkey resulting in high mortality rate.

Chronic mercury poisoning: report of two siblings.

Mercury exists as organic inorganic and elementary forms in nature and is one of the most toxic metals that are poisonous for human beings. Mercury is commonly used in many different sectors of industry such as in insects formulas, agriculture products, lamps, batteries, paper, dyes, electrical/electronic devices, jewelry, and in dentistry. In this study, two siblings (one a 7-year-old boy and the other a 13 years old girl) are reported who developed chronic mercury poisoning as a result of long-term contact with batteries. Our aim is to emphasize the importance of mercury poisoning that is extremely rarely seen in childhood.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.

Magnetic resonance imaging findings of the abducens nerves in type 1 Duane's retraction syndrome.

Abstract Purpose: To investigate nervus abducens and extraocular mucles in patients with Type 1 Duane’s retraction syndrome using high-definition magnetic resonance imaging. Methods: The study included 10 patients with Type I Duane’s retraction syndrome who underwent magnetic resonance imaging (MRI) of the brain and orbits. Results: Overall, 10 cases were included in the study. There were seven women and three men. The mean age was 5.2 years (1–15 years). MRI of the abducens nerve was performed in all cases. Of the cases, the left eye was involved in eight cases, whereas the right eye was involved in two cases. There was no bilateral eye involvement. Among the 10 patients clinically diagnosed as Type 1 Duane’s retraction syndrome, the abducens nerve could not be visualized in eight cases, whereas the nerve was hypoplastic in one case and bilateral abducens nerves were present in one case by MRI. The extraocular muscles were normal in all cases on T2 weighted coronal MRI of the orbits. Conclusion: Absence of abducens nerve and normal extraocular muscles was detected in patients with Type 1 Duane’s retraction syndrome at the affected side.

Effects of ebselen on radiocontrast media-induced hepatotoxicity in rats

Oxidative stress is accepted as a potential responsible mechanism in the pathogenesis of radiocontrast media (RCM)-induced hepatotoxicity. Therefore, we aimed to investigate the protective effects of ebselen against RCM-induced hepatotoxicity by measuring tissue oxidant/antioxidant parameters and histological changes in rats. Wistar albino rats were randomly separated into four groups consisting of eight rats per group. Normal saline was given to the rats in control group (group 1). RCM was given to the rats in group 2, and both RCM and ebselen were given to the rats in group 3. Only ebselen was given to the rats in group 4. Liver sections of the killed animals were analyzed to measure the levels of malondialdehyde (MDA) and activities of superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px), as well as histopathological changes. In RCM group, SOD and CAT levels were found increased. In RCM-ebselen group, MDA, SOD and CAT levels were found decreased. In RCM-ebselen group, however, GSH-Px activities of liver tissue increased. All these results indicated that ebselen produced a protective mechanism against RCM-induced hepatotoxicity and took part in oxidative stress.

Evaluation of Lymphocyte Subgroups in Children With Down Syndrome

In this study, lymphocyte subgroups including blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were analyzed in children with Down syndrome (DS). The study includes 85 children with DS, followed at Department of Pediatrics, Faculty of Medicine, Yüzüncü Yil University and 64 healthy age-matched control participants. Blood CD3, CD4, CD8, CD4/CD8, CD19, and CD16.56 values were examined in both the groups. Significantly decreased blood CD3, CD4, and CD19 values were found in the study group (P < .05) when compared with the control group. In conclusion, we would like to emphasize that blood CD3, CD4, and CD19 levels were found to be decreased in children with DS. Based on these finding, we think that these decreased lymphocyte subgroups might be responsible for increased susceptibility to infections in children with DS.

Intrathoracic Rib Associated with Pulmonary Collapse in a Pediatric Patient

The ribs are essential structures of the osseous thorax that provide certain significant information and aid interpretation of radiologic images in daily routine practice. Intrathoracic rib is a rare congenital anomaly that is usually discovered incidentally, but may cause in vain interventions in case of being unaware. We herein report an intrathoracic rib in a girl whose chest X-ray was strange enough to obtain a spiral computed tomography (CT) scanning for a definitive diagnosis afterwards.

Evaluation of Lymphocyte Subgroups in Children with Subacute Sclerosing Panencephalitis

The aetiology of subacute sclerosing panencephalitis (SSPE) remains to be fully elucidated, although it follows infection with a hypermutant defective M-protein measles virus. This study analysed peripheral blood lymphocyte subgroups to determine their role in the pathophysiology of SSPE. It included 22 children with SSPE aged 2-15 years (patient group) and 22 age- and gender-matched healthy children (control group). In children < 6 years old, there were no statistically significant differences between the two groups in the proportions of lymphocytes expressing the surface markers CD3, CD8, CD19 or CD16/56, or in CD4/CD8 ratio. The proportion of CD4+ lymphocytes in SSPE patients < 6 years of age was significantly lower compared with the control group. In children ≥ 6 years old, there were no significant differences in the lymphocyte subgroups. In conclusion, these findings suggest that a low CD4+ lymphocyte count might be responsible for SSPE in younger children.