American Research Journal of Pediatrics

Faton Krasniqi1, Shpetim Salihu1, Isabere Krasniqi3, Edmond Pistulli2* 

Abstract: Arthrogryposis multiplex congenita is a rare disorder that accompanies with multiple joint contractures, which can occur at delivery and are non progressive. It affects both sexes. Most of the cases have been reported from Asia, Africa and Europe. Incidence is about 1:3000 to 1:10.000 of all live newborns. The causes, for now are unknown. However, this disorder can be provoked from neuropathic and myopathic diseases or some another cause that decreases the mobility of fetal joints. Great joints of both extremities are more attacked. The muscles of the extremities that are attacked can be hypoplastic. Also, the IQ of these children can be affected. We have presented a newborn female, born in term, by normal delivery, with arthrogryposis multiplex congenita, that has been resuscitated in delivery room and endotracheal intubation was needed. In utero, there has been a suspicion from the gynecologists at the end of pregnancy, for esophageal atresia. After delivery, all the needed consults and examinations have been realized. After three weeks in Neonatal Intensive Care Unit, the baby has been discharged in a better general condition,  with recommendations to further consultations with orthopedics, physiatrician and pediatrician-neurologists.

Pierre Jean Aurelus1*, Hermilo De La Cruz Yáñez1, Edwin Allen Mejía Solís2, Elvia Ximena  Lemus Manjarrez3, María Antonieta Julián Núñez3, Rafael Roberto Zapata Carrión1

Introduction: Portal hypertension and its complications are the main cause of morbidity and mortality in pediatric Patients with cirrhosis or end-stage liver disease. Those Patients should require a threshold value of hepatic venous pressure gradient of 10 to 12 mmHg for the development of varices. The aim of this work was to evaluate the influence of splenectomy with disconnection of short veins of stomach by  using Child-Turcotte to evaluate the influence of splenectomy with disconnection of short veins of stomach by using Child-TurcottePugh score in a small case series of four Pediatric Patients with liver disease or cirrhosis.

K. M. D. L. Siriwardena 

Abstract: Lesch Nyhan syndrome (LNS) is a rare genetic disorder at the chromosome point Xq26-q27.2. This disease occurs almost exclusively in male children at a very young age and caused by mutations in the hypoxanthine-guanine phosphoribosyl transferase (HPRT) gene and is inherited in an X-linked recessive manner. The clinical manifestations are associated with the hypoxanthine-guanine phosphoribosyl transferase (HPRT) enzyme deficiency. The symptoms of LNS may become apparent as early as six months of age. The first clinical manifestation of LNS is earlier urate crystal formation, resulting from abnormally elevated levels of uric acid in the urine, leads to the presence of orange colored deposits in the diapers of affected infants. Self-mutilation, mental retardation, self injurious behavior, gouty arthritis, hemiplegia and kidney stones may commonly occur in later stages. LNS is diagnosed by hyperuricemia, macrocytic anaemia, HPRT enzyme activity, identification of a molecular genetic mutation in the HPRT gene, imaging studies of the brain and spinal cord, ultrasound imaging of the urinary tract and slightly delayed bone age. Although treatment of the condition is limited; management of symptoms is effective for most individuals for surviving into the second or third decade of life. Hence there may be slow progression of disease in adulthood; sudden death may highly occur with respiratory abnormalities. My review may provide the latest clinical information and findings of Lesch Nyhan syndrome. Since this disease is rare in the society, researches and information sources are also limited. But this information provide here may help to find some interesting pathways for new research and findings on LNS.

Nevra Koç, Ph.D.1, Emine Akal Yıldız, Ph.D.2, İhsan Esen, MD3, Gülhan Samur, Ph.D.4 Seyit Ahmet Uçaktürk, MD5, Mehmet Gündüz, MD6

Aim: The aim of our study is to evaluate adolescent girls with chronic lymphocytic thyroiditis (CLT), regarding  eating habits, dietary calcium intake, anthropometric measurements, biochemical findings, bone mineral density (BMD) and to evaluate the effect of nutritional education on these parameters.