Pakize Karakaya

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.

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.

Rhabdomyolysis associated with olanzapine treatment in a child with Autism.

Children with autism often display difficult behaviors including tantrums, extreme irritability, and physical aggression. There is emerging evidence that olanzapine is useful in decreasing these disruptive behaviors. The most common adverse effects are weight gain and short-term sedation. On the other hand, olanzapine rarely causes rhabdomyolysis. We report a case with rhabdomyolysis in an autistic child just after 2 doses of olanzapine treatment. Initial creatine kinase value was 30,690 IU/L (range, 5-130 U/L), and rhabdomyolysis resolved with hydration and alkalinization over 7 days. Monitoring serum creatine kinase levels may be useful in pediatric cases after initiation of olanzapine treatment.

Importance of acrocyanosis in delayed walking

We present a four-year-old wth ethylmalonic encephalopathy who presented with delayed walking. She had bilateral hyperintense lesions in the basal ganglia. Molecular analysis revealed a homozygous c.3G>T mutation in the ETHE1 gene. She did not have typical findings of the disease including recurrent petechia, chronic diarrhea and acrocyanosis was very subtle and orthostatic. She benefited from riboflavine and Q10 treatments. We suggest that acrocyanosis should be questioned and examined in patients with motor delay.

Importance of Diazepam Administration During Electroencephalography in the Differential Diagnosis of Cortical Visual Loss

A 14-year-old boy presented with acute visual loss due to cortical blindness. Two weeks after the visual symptoms, the patient developed behavioral abnormalities. Brain magnetic resonance imaging (MRI) revealed hyperintense lesions at parieto-occipital lobes on T2-weighted and fluid attenuated inversion recovery images. Sleep and awake electroencephalography (EEG) were normal, but diazepam administration revealed bilateral periodic synchronous complexes occurring every 20 to 30 seconds. Elevated measles antibody titers in cerebrospinal fluid confirmed the diagnosis of subacute sclerosing panencephalitis. We conclude that visual loss due to cortical blindness is an important finding of subacute sclerosing panencephalitis. Diazepam administration during EEG should be a part of investigation in cases with unexplained cortical blindness.

Acute cervical dystonia after the first dose of butamirate citrate.

Butamirate citrate is a central-acting antitussive drug and is widely used in clinical practice in childhood. It is thought that to be centrally active antitussive drugs act through receptors in the brainstem to inhibit cough, and these findings were based on the evidence of animal models. Central nervous system adverse effects of cough suppressants are rare and include irritability, lethargy, hallucinations, and dystonic reactions. In this report, we present the first patient who developed cervical dystonia shortly after the first dose of butamirate citrate, and the patients symptoms improved immediately after a single intramuscular dosage of biperiden.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.

“Pankreas Yaralanması” Olgu Sunumu

Blunt trauma is responsible for 80% of abdominal injuries in childhood. Pancreatic injury is quite rare and often overlooked or diagnosed too late. The most are frequently injured by being exposed to compression as a result of bicycle accidents. In the early period, a normal physical examination and normal values of pancreatic amylase, can lead patients to be bypassed. In this article, two cases with the complaint of a fall from a bicycle and then diagnosed as pancreatic injury are reported and reviewed with the review of the literature.