Clinical Manifestations of Type 1 Gaucher Disease

 How to Cite this Article: Salehpour Sh. Clinical Manifestations of Type 1 Gaucher Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):13-14.pls see PDF.References 1. Beutler E, Grabowski GA. Gaucher disease. In: Metabolic and molecular bases of inherited disease, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York 2001: 3635. 2. Cox TM, Schofield JP.   Gaucher’s disease: clinical features  and   natural   history.   Baillieres   Clin Haematol. 1997 Dec;10(4):657-89.  

Diagnostic Methods for Gaucher Disease

How to Cite This Article: Salehpour Sh. Diagnostic Methods for Gaucher Disease. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 14-15.Pls see Pdf.

Diagnostic Methods for Neimann-Pick Type C

How to Cite This Article: Salehpour Sh. Diagnostic Methods for Neimann-Pick Type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 16-17. Pls see pdf.

Leigh Disease

Pls see PDF

Clinical Manifestations of Organic Acidemia

A clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis Diseases with OA Isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydrogenase deficiency, glutaric, methylmalonic, formiminoglutamic acidurias.DescriptionThe term “organic acidemia” or “organic aciduria” (OA) applies to a diverse group of metabolic disorders characterized by the excretion of non-amino organic acids in urine. Most organic acidemias results from a dysfunction of a specific step in amino acid catabolism, usually due to deficient enzyme activity. This leads to the accumulation of organic acids in the biological fluids (blood and urine), which, in turn, produces disturbances in the acid-base balance and causes alterations in pathways of intermediary metabolism.Methylmalonic acidemia occurs when the activity of Methylmalonyl CoA mutase is defective in the isoleucine, valine, methionine and threonine degradative pathway.Propionic acidemia occurs when the activity of Propionyl CoA carboxylase isdefective in the isoleucine, valine, methionine and threonine degradative pathway.Isovaleric acidemia occurs when the activity of Isovaleryl CoA dehydrogenase is defective in the leucine degradative pathway.Glutaric acidemia type I occurs when the activity of Glutaryl CoA dehydrogenase is defective in the lysine, hydroxylysine and tryptophan degradative pathway.3-Hydroxy-3-methylglutaryl CoA (HMG-CoA) lyase deficiency occurs when the activity of HMG CoA lyase is defective in the leucine degradative pathway.3-Methylcrotonyl CoA carboxylase deficiency occurs when the activity of 3-methylcrotonyl-CoA carboxylase is defective in the leucine degradative pathway.IncidenceWhile each individual disorder is rare, overall incidence of organic acidemias is 1:20, 000.Clinical FeaturesA neonate affected with an organic acidemia is usually well at birth and for the first few days of life. The usual clinical symptoms of OA disorders may include vomiting, metabolic acidosis, ketosis, dehydration, coma, hyperammonemia, lactic acidosis, hypoglycemia, failure to thrive, hypotonia, global developmental delay, sepsis and hematologic disorders. The non-distinct clinical presentation may initially be attributed to sepsis, poor breast-feeding, or neonatal asphyxia.ScreeningNewborn Screening Laboratory performs a screening test for organic acidemias by tandem mass spectrometry (MS/MS). It is a screening test and not a diagnostic test. Confirmatory TestingA diagnosis must be confirmed using an independent analysis of urinary organic acids as well as other appropriate tests.It is important to confirm or exclude the diagnosis of an organic acidemia in a timely fashion and with a high degree of accuracy to avoid unnecessary testing, to provide appropriate interventions, prognostic and genetic counseling, and to ensure access to specialized medical services.Implications for Genetic TestingThe disorders included in this screening are inherited in an autosomal recessive manner. While a family history of neonatal death should prompt consideration of an organic acidemia, a negative family history does not preclude the possibility.Interpretations/RecommendationsMandated Disorders:• Expected Results: No elevated markers for C3, C5, C5DC, and C5OH (Acylcarnitine Profile within acceptable limits)• Equivocal Results: Indeterminate results Recommend: Repeat filter paper specimen within 2 days• Presumptive-Positive Results: Elevated acylcarnitine markers indicating a possible organic acidemia or repeat equivocal results Glutaric acidemia type I – C5DC Propionic and Methylmalonic acidemia – C3 Isovaleric acidemia – C5 3-Hydroxy-3-methylglutaryl CoA lyase deficiency – C5OH 3-Methylcrotonyl CoA carboxylase deficiency – C5OHRecommend: Immediate assessment of the baby’s health status and consultation with metabolic/genetic specialist strongly recommended.Non-Mandated Disorders:Other acylcarnitine markers detected on MS/MS• Positive Results: An elevated acylcarnitine result that does not match a mandated organic acidemia disorder profile Recommend: Immediate assessment of the baby’s health status and consultation with a metabolic/genetic specialist for appropriate urine and/or serum confirmatory/diagnostic testing and treatment Newborn screening tests are adjuncts to clinical assessment, which is paramount. An organic acidemia disorder should be considered in infants with any of the signs/symptoms regardless of newborn screening results.

Relationship Between Intrinsic/Extrinsic Motivation and L2 Speaking Skill Among Iranian Male and Female EFL Learners

This study investigated the relationship between intrinsic/extrinsic motivation and L2 (English) speaking skill between male and female high school students in Iranian EFL context. To this end, 249 male and female students' intrinsic and extrinsic motivation was measured with a questionnaire and their English speaking skill was assessed by a speaking rating scale. To triangulate the data, semi-structured interviews with a sample of 25 EFL students were conducted. The results of descriptive statistics and correlation coefficients demonstrated that the females had a higher level of intrinsic motivation while the males had a higher level of extrinsic motivation. Besides, the degree of correlation between intrinsic motivation and attainment of L2 speaking skill was statistically higher among the females. Also, t-test results indicated a statistically significant difference in the intrinsic/extrinsic type of motivation between the male and female students. The findings highlight the role of gender in dealing with motivation in L2 classes.En este estudio se ha investigado la relación entre la motivación extrínseca/intrínseca y la habilidad de hablar inglés L2 entre estudiantes de secundaria masculinos y femeninos en el contexto de EFL de Irán. La motivación intrínseca y extrínseca de 249 estudiantes masculinos y femeninos se midió con un cuestionario y su habilidad para hablar inglés se evaluó con una escala de calificación oral. Para triangular los datos, se realizaron entrevistas semiestructuradas con una muestra de 25 estudiantes de EFL. Los resultados de estadística descriptiva y los coeficientes de correlación demostraron que las mujeres tenían un mayor nivel de motivación intrínseca, mientras que los hombres tenían un mayor nivel de motivación extrínseca. Además, el grado de correlación entre la motivación intrínseca y el logro de la habilidad de hablar L2 fue estadísticamente mayor entre las mujeres. Los resultados de la prueba-t indicaron también una diferencia estadísticamente significativa en la motivación intrínseca/extrínseca entre los estudiantes masculinos y femeninos. Los resultados destacan el papel del género en el tratamiento de la motivación en las clases de L2.Cette étude est à analyser le rapport entre la motivation intrinsèque/extrinsèque et la compétence parlée L2 (en anglais) parmi les lycéens/lycéennes Iranien(ne)s dans le contexte de l'apprentissage iranien d'ALE. Pour atteindre ce but, les motivations intrinsèque et extrinsèque ont été mesurées par un questionnaire parmi 249 étudiants masculins et féminins iraniens, leur compétence parlée étant saisie par une échelle d'évaluation dans la production orale. Afin de trier les données, des entretiens demi-structurés avec 25 étudiants ont été programmés. Les résultats des statistiques descriptives et les facteurs de corrélation démontre que les femmes ont un niveau plus élevé de la motivation intrinsèque. Quant aux hommes ils sont plus motivés extrinsèquement. En plus, le degré de corrélation entre la motivation intrinsèque et l'arrivée au niveau L2 de la compétence parlée est statistiquement plus élevé parmi les femmes. Également, les résultats de t-test ont marqué une énorme différence de la motivation intrinsèque/extrinsèque entre les hommes et les femmes étudiants, enfin, ce que nous trouvons dans ce travail met en lumière le rôle du genre des étudiants dans la motivation qu'ils obtiennent dans les cours du niveau L2 parlée dans ALE.En aquest estudi s'ha investigat la relació entre la motivació extrínseca/intrínseca i l'habilitat de parlar anglès L2 entre estudiants de secundària masculins i femenins en el context de EFL de l'Iran. La motivació intrínseca i extrínseca de 249 estudiants masculins i femenins es va mesurar amb un qüestionari i la seva habilitat per parlar anglès es va avaluar amb una escala de qualificació oral. Per triangular les dades, es van realitzar entrevistes semiestructurades amb una mostra de 25 estudiants de EFL. Els resultats d'estadística descriptiva i els coeficients de correlació van demostrar que les dones tenien un major nivell de motivació intrínseca, mentre que els homes tenien un major nivell de motivació extrínseca. A més, el grau de correlació entre la motivació intrínseca i l'assoliment de l'habilitat de parlar L2 va ser estadísticament més gran entre les dones. Els resultats de la prova-t van indicar també una diferència estadísticament significativa en la motivació intrínseca/extrínseca entre els estudiants masculins i femenins. Els resultats destaquen el paper del gènere en el tractament de la motivació en les classes de L2

Mismanagement of Phenylketonuria: An Underlying Cause of Kwashiorkor

ObjectiveToo much restriction of dietary proteins can cause severe protein malnutrition,which can occur in adjusting the diet for some kinds of aminoacidopathies, urea cycle disorder and organic academia. This report presents the case of a 1.5-year-old boy with history of phenylketonuria with a three weeks history of erythematous scaly plaques and edema of his extremities; he had a history of similar skin manifestations three months earlier that resolved spontaneously. The patient had been on very restricted phenylalanine diet. Diagnosed with Kwashiorkor, a phenylalanine level of 0.4 mg/dl, the child was hospitalized and put on a special diet and given the appropriate antibiotic; after a few days of treatment his condition  improved. We underscore the importance of education for those considering prescription of diet restriction and emphasize the regulation of balanced diet in such patients.

Pfeiffer Type I Syndrome: A Genetically Proven Case Report

ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.

Freeman-Sheldon Syndrome: A Case Report

ObjectiveThe Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia, in which fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. The authors report with a review of literature the case of an infant with Freeman-Sheldon syndrome, which his characteristics was mentioned above.