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.

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.

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.

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.

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 patient's symptoms improved immediately after a single intramuscular dosage of biperiden.

Correlation between motor performance scales, body composition, and anthropometry in patients with Duchenne muscular dystrophy.

The aim of this study is to investigate the relationship between body composition, anthropometry, and motor scales in patients with Duchenne muscular dystrophy (DMD). Twenty six patients with DMD were evaluated by Expanded Hammersmith Functional Motor Scale (HFMSE), gross motor function classification system (GMFCS), multifrequency bioelectrical impedance analysis, and anthropometric measurements. Seventeen healthy children served as control group. There were 26 patients with a mean age of 9.5 ± 4.8 years. Ages and anthropometric measurements did not differ between groups. Of the 26 patients, nine were level I, seven were level II, two were level III, seven were level IV, and one was level V, according to the GMFCS. Despite the similar percentage of total body water, extracellular water/intracellular water ratio was significantly elevated in DMD patients (p = 0.001). Increased values of fat percentage and body fat mass index (BFMI) correlated positively with elevated GMFCS levels (r = 0.785 and 0.719 respectively). Increased fat-free mass index (FFMI) correlated negatively with elevated GMFCS levels (r = -0.401). Increased fat percentage and BFMI correlated negatively with HFMSE scores (r = -0.779 and -0.698, respectively). Increased values of FFMI correlated positively with HFMSE scores. There was also a negative correlation between increased skin fold measurements from triceps and scapula and HFMSE scores (r = -0.618 and -0.683, respectively). Increased skin fold values from the same regions correlated positively with elevated GMFCS levels (r = 0.643 and 0.712, respectively). Significant body composition changes occur in patients with DMD. Anthropometric and multifrequency bioelectrical impedance analyses measurements show good correlation between motor function scales. These results may also be helpful to evaluate the effects of new treatment strategies.

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.

Endocrinological and cardiological late effects among survivors of childhood acute lymphoblastic leukemia.

OBJECTIVE: Survival rates for childhood acute lymphoblastic leukemia (ALL) have significantly improved and late effects of therapy have been important in the follow-up of survivors. The objective of this study is to identify the endocrinological and cardiological late effects of ALL patients treated in our pediatric hematology unit. MATERIALS AND METHODS: Patients treated for ALL with BFM protocols after at least 5 years of diagnosis and not relapsed were included in the study. Endocrinological late effects (growth failure, obesity, insulin resistance, dyslipidemia, thyroid gland disorders, osteopenia/osteoporosis, and pubertal disorders) and cardiological late effects were evaluated. The study group was evaluated with anthropometric measurements, body mass index, and laboratory testing of fasting glucose, insulin, serum lipids, thyroid functions, and bone mineral densities. Echocardiography and pulsed wave Doppler imaging were performed for analysis of cardiac functions. RESULTS: Of the 38 ALL survivors, at least 1 adverse event occurred in 23 (60%), with 8 of them (21%) having multiple problems. Six (16%) of the survivors were obese and 8 (21%) of them were overweight. Subjects who were overweight or obese at the time of diagnosis were more likely to be overweight or obese at last follow-up. Obesity was more frequently determined in patients who were younger than 6 years of age at the time of diagnosis. Insulin resistance was observed in 8 (21%) subjects. Insulin resistance was more frequently seen in subjects who had family history of type 2 diabetes mellitus. Hyperlipidemia was detected in 8 (21%) patients. Hypothyroidism or premature thelarche were detected in 2 children. Two survivors had osteopenia. Cardiovascular abnormalities occurred in one of the subjects with hypertension and cardiac diastolic dysfunction. CONCLUSION: We point out the necessity of follow-up of these patients for endocrinological and cardiological late effects, since at least one adverse event occurred in most of our cases. CONFLICT OF INTEREST: None declared.

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.