Yasemin Topcu

Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority of patients have mutations in the MOCS1 and MOCS2 genes. Although the therapeutic treatment strategies have not been improved, genetic analysis is essential to elucidate the disease. Here, we report a review of 12 patients with Molybdenum cofactor deficiency reported from Turkey.

Incidental white matter lesions in children presentıng with headache.

We aimed to describe the prevalence and significance of white matter lesions detected on magnetic resonance imaging (MRI) in children with headache.

Caffeic acid phenethyl ester prevents apoptotic cell death in the developing rat brain after pentylenetetrazole-induced status epilepticus.

Population-based studies suggest that seizure incidence is highest during the first year of life, and early-life seizures frequently result in the development of epilepsy and behavioral alterations later in life. The early-life insults like status epilepticus often lead to epileptogenesis, a process in which initial brain injury triggers cascades of molecular, cellular, and network changes and eventually spontaneous seizures. Caffeic acid phenethyl ester is an active component of propolis obtained from honeybees and has neuroprotective properties. The aim of this study was to investigate whether caffeic acid phenethyl ester exerts neuroprotective effects on the developing rat brain after status epilepticus. Twenty-one dams reared Wistar male rats, and 21-day-old rats were divided into three groups: control group, pentylenetetrazole-induced status epilepticus group, and caffeic acid phenethyl ester-treated group. Status epilepticus was induced on the first day of experiment. Caffeic acid phenethyl ester injections (30 mg/kg intraperitoneally) started 40 min after the tonic phase of status epilepticus was reached, and the injections of caffeic acid phenethyl ester were repeated over 5 days. Rats were sacrificed, and brain tissues were collected on the 5th day of experiment after the last injection of caffeic acid phenethyl ester. Apoptotic cell death was evaluated. Histopathological examination showed that caffeic acid phenethyl ester significantly preserved the number of neurons in the CA1, CA3, and dentate gyrus regions of the hippocampus and the prefrontal cortex. It also diminished apoptosis in the hippocampus and the prefrontal cortex. In conclusion, this experimental study suggests that caffeic acid phenethyl ester administration may be neuroprotective in status epilepticus in the developing rat brain.

Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent

Guillain-Barré syndrome (GBS) and transverse myelitis may occur coexistently in the pediatric population. This may be explained by a shared epitope between peripheral and central nervous system myelin. Coexistent transverse myelitis, myositis, and acute motor neuropathy in childhood have not been previously described. We describe a 14-year-old female patient with transverse myelitis, myositis, and GBS following Mycoplasma pneumoniae infection. She presented with weakness and walking disability. Weakness progressed to involve all extremities and ultimately, she was unable to stand and sit. Based on the clinical findings, a presumptive diagnosis of myositis was made at an outside institution because of high serum creatine kinase level. The patient was referred to our institution for further investigation. Magnetic resonance imaging of spine revealed enhancing hyperintense lesions in the anterior cervicothoracic spinal cord. The electromyography revealed acute motor polyneuropathy. Serum M. pneumoniae IgM and IgG were positive indicating an acute infection. Repeated M. pneumoniae serology showed a significant increase in Mycoplasma IgG titer. The patient was given intravenous immunoglobulin for 2 days and clarithromycin for 2 weeks. She was able to walk without support after 2 weeks of hospitalization. This paper emphasizes the rarity of concomitant myositis, transverse myelitis, and GBS in children.

Brain abscess caused by Lactococcus lactis cremoris in a child

Lactococcus lactis cremoris infections are very rare in humans. It is recognized as a commensal organism of mucocutaneous surfaces of cattle, and is occasionally isolated from human mucocutaneous surfaces. We report a brain abscess caused by L. lactis cremoris in an immunocompetent child. A 19-month-old female patient was admitted with fever and vomiting. Brain computed tomography (CT) revealed brain abscess. L. lactis cremoris was isolated from culture of the abscess material. The patient was treated with pus drainage from brain abscess and antibiotics including vancomycin and meropenem. The patient recovered completely. To our knowledge, this is the first report of a L. lactis cremoris infection in children.

The Paediatric migraine disability assessment score is a useful tool for evaluating prophylactic migraine treatment

There is a need for an objective assessment scoring system to evaluate the effectiveness of prophylactic drugs in paediatric migraine, and the aim of this study was to evaluate the Paediatric Migraine Disability Assessment Score (PedMIDAS).

Zonisamide attenuates hyperoxia-induced apoptosis in the developing rat brain.

Oxygen therapy used in the treatment of perinatal hypoxia induces neurodegeneration in babies with immature antioxidant mechanisms. Zonisamide is a new antiepileptic drug used in childhood intractable seizures. Many studies demonstrated its neuroprotective effects. There is no study evaluating its effect on hyperoxic brain injury. The aim of this study was to investigate the neuroprotective effect of zonisamide on hyperoxia-induced neonatal brain injury. A total of 21 Wistar rat pups were used. The animals were divided into three groups: control group, hyperoxia group, and zonisamide-treated group. The zonisamide-treated group received an intraperitoneal injection of zonisamide. Zonisamide significantly preserved the number of neurons in CA1 and dentate gyrus parts of hippocampus, prefrontal, and parietal cortex. Zonisamide treatment also decreased the number of apoptotic neurons in all examined parts of hippocampus, prefrontal, and parietal cortex. We suggest that zonisamide treatment may be used as a neuroprotective agent in hyperoxic brain injury.

Severe Neurologic Involvement of Degos Disease in a Pediatric Patient

A 14-year-old male presented with paresthesias on the right upper and lower extremities, headache, and vomiting. In addition to worsening paresthesia and weakness on the right side of his body, blurred vision, fever, and skin lesions developed. He also had skin lesions characterized with 3-10 mm papules with a white atrophic center surrounded by pink rim mostly on the trunk and lower extremities. Brain magnetic resonance imaging showed chronic subdural effusion and encephalomalacia of the left cerebral hemisphere. Cerebrospinal fluid (CSF) examination revealed increased protein levels. Electromyography was consistent with diffuse polyradiculoneuropathy. Skin biopsy confirmed the diagnosis of a rare vasculopathy: Degos disease. A case presenting with chronic subdural effusion, encephalomalacia, elevated CSF protein, and polyradiculopathy should be carefully examined for skin lesions, which may suggest the diagnosis of Degos disease.

Expression patterns of micro-RNAs 146a, 181a, and 155 in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis is caused by persistent brain infection of mutated virus, showing inflammation, neurodegeneration, and demyelination. Although many factors are emphasized in the pathogenesis of subacute sclerosing panencephalitis, the exact mechanism of neurodegeneration remains unknown. Micro-RNAs are small, noncoding RNAs that regulate gene expression at the posttranscriptional levels. Micro-RNAs are essential for normal immune system development; besides they are also implicated in the pathogenesis of many chronic inflammatory disorders. The aim of this study is to investigate the expression patterns of micro-RNAs 146a, 181a, and 155 in peripheral blood mononuclear cells of patients with subacute sclerosing panencephalitis. We enrolled 39 patients with subacute sclerosing panencephalitis and 41 healthy controls. Quantitative analysis of micro-RNAs 146a, 181a, and 155 were performed using specific stem-loop primers followed by real-time polymerase chain reaction. All of 3 micro-RNAs were upregulated in subacute sclerosing panencephalitis patients. In addition, the level of micro-RNA 155 expression was higher in stage 3 patients. But, micro-RNA 146a and 181a expression levels showed no association or correlation with clinically relevant data. Alteration of peripheral blood mononuclear cell micro-RNAs in subacute sclerosing panencephalitis may shed new light on the pathogenesis of disease and may contribute to the aberrant systemic rise in mRNA levels in subacute sclerosing panencephalitis.

Carnitine palmitoyl transferase II deficiency in an adolescent presenting with rhabdomyolysis and acute renal failure.

The most common cause of recurrent rhabdomyolysis in childhood is inherited metabolic disorders. Carnitine palmitoyl transferase II (CPT II) deficiency is a lipidosis and is a common cause of inherited recurrent myoglobinuria. The disease is inherited in autosomal recessive trait, and the clinical phenotype ranges from a severe and multisystemic infantile form to a milder muscle form, which is characterized with rhabdomyolysis and myoglobinuria. Exercise, infection, fasting, and cold are the most important triggering factors of rhabdomyolysis in CPT II deficiency. The severity of attacks is highly variable and some of these attacks may be complicated by acute renal failure. We report a case of a 13-year-old girl with recurrent rhabdomyolysis due to CPT II deficiency whose last attack was complicated by acute renal failure.