Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.

BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. METHODS: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. RESULTS: The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. CONCLUSIONS: NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.

The Association Between Hemoglobin HbA1c with Serum Inorganic Phosphate in Children with Type 1 Diabetes.

BACKGROUND: Diabetes mellitus is one of the most common chronic metabolic diseases in children and adolescents, which changes the cellular metabolism. Phosphorus is an essential element for metabolism. Early in the progression of diabetes, a paradoxical metabolic imbalance in inorganic phosphate (Pi) occurs that may lead to reduced high energy phosphate and tissue hypoxia. While low and high uncontrolled blood sugars can be easily recognized by clinical symptoms, low and high plasma inorganic phosphate remain unrecognizable. Therefore, we aimed to assess the association between hemoglobin A1c (HbA1c) with serum inorganic phosphate in children with type 1 diabetes. MATERIALS AND METHODS: This cross-sectional study was conducted on 102 patients selected from a pediatric ward in 17th Shahrivar hospital in Rasht, North of Iran. Clinical data including age, sex, height, weight, BMI, duration of diabetes, the level of HbA1c, and phosphorus were gathered. The level of HbA1c was adjusted by age in the final analysis. RESULTS: The mean age of samples was 9.98±3.91 years old and 46 participants (45.1%) were male. It was found that HbA1c had a reversed and significant relationship with BMI (r=-0.215 and P=0.03), but there was no correlation between phosphate, age, height and weight, duration of diabetes mellitus, or rate of insulin consumption with HbA1c (P>0.05). CONCLUSION: The finding showed that HbA1c had a reversed relationship with BMI but there was no correlation between phosphate and HbA1c.