The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran

How to Cite This Article: Noroozi Asl S, Vakili R, Ghaemi N, Eshraghi P. The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran. Iran J Child Neurol. Summer 2017; 11(3):53-56. AbstractNiemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood).Early detection of NPC is important so that therapy with miglustat can delay onset of neurological symptoms and prolong survival. We describe here three infants from Birjand, South Khorasan, eastern Iran in 2016 with splenomegaly and different neurological signs that diagnosis was confirmed by genetic study. In all of them, NPC-509 was pathologically increased. They also had an unreported homozygous mutation (c. 1415T>C, p.Leu472Pro) in exon 9 of the NPC1 gene. We found unreported homozygous mutation in NPC gene.Knowing this mutation is significant to our people. Genotype-phenotype correlations for this specific mutation needs to be further studied. References1. Mengel E, Klunemann H, Lourenco C, and et al. Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis 2013;8:166.2. Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.3. Di Rocco M1, Dardis A, Madeo A, Barone R, Fiumara A. Early miglustat therapy in infantile Niemann-Pick disease type C. Pediatr Neurol 2012;47(1):40-3.4. Karimzadeh P, Tonekaboni SH, Ashrafi MR, et al. Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C Iranian Pediatric Case Series. J Child Neurol 2013;28(12):1599-606.5. Wijburg F, Sedel F, Pineda M et al. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012;78(20):1560-7.6. Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag 2009;5:877-87.7. Patterson M, Hendriksz Ch, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012;106(3):330-44.8. Margaret M, Destinck DJ. Lipidosis(Lysosomal storage disease). Nelson Textbook of Pediatrics. 19th ed.Philadelphia: WB Saunders Company. 2011:488-9.9. Patterson M.C, Mengel E, Wijburg F, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis 2013;8:12

Evaluating of psychiatric behavior in obese children and adolescents

Abstract IntroductionObesity is a medical condition  that it may have a harmful effect on health, leading to increased illness and reduced life expectancy. This study is aimed to evaluate the relationship of psychiatry disorders in overweight and obese children and adolescents.MethodsIn this was case-control study, one hundred and sixty child and Adolescent were recruited. The sampling method of this study was non-probability and biased. Study instruments were SDQ, CDI, STAI, Peds QL. All questionnaires were self-administrating that was completed by subjects or their parents. Differences between groups were examined using t-test and chi-square tests as appropriate. ResultsThe results our study showed no significant different in scores of anxiety between two groups. But showed significant different in scores of depression, quality of life, and strength and difficult between two groups.  Also there was no significant difference in gender effect on anxiety and Depression. However, in Quality of life test showed that emotional symptoms were more in girl than boys. In contrast, the conduct problems were more in boys than girls. Anxiety and Depression was more in adolescents than childrenConcussion Our study showed obesity has a negative effect on the anxiety, depression, and self-esteem of children and adolescents. It can be suggested that obesity might be a more important risk factor for depression, anxiety, and other psychiatry disorders. This study also emphasizes the importance of prevention of obesity

5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family

Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome. Sex assignment should be deferred until puberty because spontaneous virilization occurs and the patient can engage in the decision‐making process. Abstract 5‐Alpha reductase deficiency is a genetic disorder causing 46, XY disorder of sex development (DSD). Typical clinical feature is a male with ambiguous genitalia or undervirilization at birth. Here we report three cases of this disorder within a family

Novel DNA variation of GPR54 gene in familial central precocious puberty

Abstract Background Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. This study was designed to evaluate variations of GPR54 in familial precocious puberty. Methods Genomic DNA was extracted from peripheral whole blood of 25 subjects with familial precocious puberty. Coding exons 1–5 of the GPR54 gene were amplified by polymerase chain reaction (PCR) and the PCR products were purified and sequenced. DNA sequences were compared to the human GenBank GPR54 sequence using Sequencher sequence alignment software. Results We detected three different Single Nucleotide Polymorphisms (SNPs) in GPR54: rs10407968 (24A > T) in 13 subjects (52%); rs3050132 (1091 T > A) in 16 subjects (64%), and a novel polymorphism (492C > G) in one subject (4%), while three subjects (12%) had no SNPs. No mutations were found in the GPR54 gene. Conclusions Regarding the presence of SNPs in 88% of the subjects in this study, it is likely a relationship exists between the SNPs of the GPR54 gene and familial precocious puberty. Further research is needed to investigate this possibility, and potential functional effects of these polymorphisms