The behavior pattern of parents of patients with subacute sclerosing panencephalitis concerning alternative medicine

The aim of the study was to examine the attitude of the parents of Subacute Sclerosing Panencephalitis (SSPE) patients regarding alternative treatment methods and compare with those of the parents of epilepsy patients. The study comprised 39 SSPE and 53 epilepsy patients who were under follow-up in Gaziantep Children's Hospital. A questionnaire designed to inquire about the knowledge (13 questions) and behavior (11 questions) of parents about alternative medicine methods was given to the caregiver of all patients. The ratio of parents using alternative medicine methods was 29/39 (74.4%) in the SSPE group and 8/53 (15.1%) in the epilepsy group. Less than half of the parents of SSPE patients reported talking about it with their doctors. These results show parents facing a chronic debilitating disease frequently seek benefit from alternative methods. Most define this treatment as complementary to the established medical treatment. However, potential and unrecognized adverse events of alternative methods and their interference with regular medical treatment can be of importance, especially because treating physicians are seldom informed about concurrent use

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene

Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular alpha-dystroglycan to its extracellular matrix ligands. O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of alpha-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature

Peripheral Neuropathy: Not a Feature of Childhood Thalassemia

Background: Chronic anemia in thalassemia patients may cause multiple complications such as bone deformities, growth retardation, and peripheral neuropathy. Aim: To examine the presence of possible electrophysiological changes in children diagnosed with thalassemia and to investigate the clinical factors affecting the electrophysiological findings in those children. Subjects and Methods: A hospital based prospective study. This prospective study included 154 children, who were diagnosed as having thalassemia and 100 control cases. Demographic features and laboratory data were recorded. All cases were examined electrophysiologically using standard procedures. Results: Totally 154 patients and 100 control cases were included in the study. Neurological examination did not indicate any abnormalities in any of the participants. Any evidence of large-fiber neuropathy was not present in any of the participants. Conclusions: In this study, we did not find any cases with neuropathy. With these results we can conclude that, thalassemia at early stages is not a risk factor for polyneuropathy in thalassemia patients under follow-up

An infant with glutaric aciduria type IIc diagnosed with a novel mutation

Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month-old female patient presented with respiratory failure and diagnosed with glutaric aciduria type II via whole exome sequencing that exhibited one known and a novel mutation. Her blood and urine analyses were all normal. After the diagnosis, dramatic and sustained improvement on a low-fat, low-protein, and high-carbohydrate diet supplemented with oral riboflavin and carnitine was determined. In especially hypotonic patients with unknown etiologies, though the blood and urine analyses are normal, glutaric aciduria type II should also be kept in mind and genetic tests may be required for the diagnosis

Serebral kalsifikasyon tanısı alan hastalar çölyak hastalığı açısındanaraştırılmalı mı?

Amaç: Bu çalışmada Çölyak hastalığı ve serebral kalsifikasyon arasındaki ilişki ve prevalansı saptamayı amaçladık.Gereç ve Yöntemler: Serebral kalsifikasyonu olan çocuklar çölyak hastalığı yönünden anti-doku transglutaminaz IgA kullanılarak tarandı.Bulgular: Toplamda 129 serebral kalsifikasyonu olan hasta (6 ay-16 yaş arası 75 erkek ve 54 kız) tetkik edildi. Kontrol grubu 223 sağlıklı çocuktan oluşmaktaydı. Çölyak hastalığı olan hastalarda serebral kalsifikasyon anlamlı olarak yüksek bulundu (p0.01). Üç hastanın duodenal biyopsisinde total villus atrofisi saptandı. Bu hastalarda demir eksikliği anemisi ve boy kısalığı mevcuttu. Bu hastalarda oksipital lobda kalsifikasyon saptanmadı. Koroid pleksus ve pineal glandda nonspesifik kalsifikasyonlar saptandı.Sonuç: Çalışmamızın sonuçlarına göre, intrakranial kalsifikasyonun çölyak hastalarında az miktarda olması intrakranial kalsifikasyon ve çölyak hastalığı arasında güçlü bir birliktelik olmadığını gösterdi. Pineal gland ve koroid pleksusta kalsifikasyonun olması Çölyak hastalığı ile ilişkili olabilir.Objective: In this study, we aimed to examine the prevalence and relationship of celiac disease (CD) in children with cerebral calcifications (CC). Material and Methods: Children with cerebral calcifications were screened for celiac disease using the anti-tissue transglutaminase IgA antibody. Results: A total of 129 children with CC (75 boys, 54 girls; age: 6 months to 16 years) were evaluated. Control group consisted of 223 healthy children. The prevalence of CD was significantly higher in patients with CC than control subjects (p0.01). In three patients pathological examination of duodenal biopsy resulted as total villous atrophy. All three patients had both iron deficiency anemia and short stature problem. Although, no calcification in occipital lobe was detected in computed tomography of these three patients, there were nonspecific calcifications in choroid plexus and pineal gland localizations. Conclusion: According to results from our study, prevalence of celiac disease being low in patients with intracerebral calcifications suggested that there is not a strong correlation between development of calcification and celiac disease. It suggested that occurrence of calcification in choroid plexus and/or pineal gland might be related to celiac disease

A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child

Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy-Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities

Non-Ketotic Hyperglycinemia

On the newborn period some metabolic diseases may cause encephalopathy clinic which can threat the life. This is related with tke accumulation of metabolic intermediates ond the brain and their toxic effects.Babies are usually asymptomatic at birth. By the accumulation of toxic metabolytes patients have the encephalopathy symptoms such as hypotonia, hypertonia, convulsions and lethargy. in this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia. [Cukurova Med J 2015; 40(Suppl 1): 117-121

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin alpha 2

Laminin alpha 2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement. It may be associated with significant white matter abnormalities resembling leukodystrophies. In this study, we elaborated on two cases with laminin alpha 2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. Although laminin alpha 2 related congenital muscular dystrophy with white matter abnormalities is known, the association with occipital cortex dysplasia has been not well recognized by clinical colleagues