TYROSINEMIA TYPE 1: A CASE REPORT

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Introduction Tyrosinemia type 1 is an AR inherited metabolic disorder attributed to deficiency of Fumarylacetoacetatehydrolase, which is a terminal enzyme in the metabolism of tyrosine.The gene for this enzyme has been mapped to the long arm of chromosome 15.Its prevalence has been reported as 1: 100.000.The patients with tyrosinemia expire in the early years of their lives.There is a markedly increased risk of hepatocellular carcinoma among the survivors.
Case report An Saudi 8-month-old male infant presented with complaints of abdominal distension, fever, jaundice, melena and disturbed level of consciousness for 3 days prior to admission to PICU (in King Fahd Hospital, Al-Baha).He was the 1 st child of 1st degree consanguineous parents.
His motor and mental development were delayed.One day after admission, the infant developed repeated daily attacks of neurological crises in bouts of irritability, crying with increased tone and deep tendon reflexes in the lower limbs.
Tracheal aspirate C/S showed MRSA The left wrist graphy showed evidence of rickets.Abdomen ultrasonography revealed hepatosplenomegaly with moderate ascites.Liver examination showed multiple hyperechoic masses.Abdominal CT showed hepatomegaly with multiple hyperdense masses, splenomegaly and ascites.CT brain showed cerebral atrophy.
Blood phenylalanine, tyrosine and methionine levels were all high.Urine examination showed increased levels of organic acids.
So, the infant was diagnosed as tyrosinemia type I and was prescribed a phenylalanine and tyrosine restricted diet (special formula milk) and received treatment for Vit.D resistant rickets.Following treatment, patient showed much clinical and laboratory improvement, but not to the safe level to conduct liver biopsy.

Retinopathy of prematurity prevalence and risk factors in developing countries
Introduction Retinopathy of prematurity (ROP) is an avoidable disorder in preterm infants, which can lead to blindness unless it is diagnosed and treated at early stages.
Objectives The goal of this study is to determine the prevalence of ROP and its predisposing factors in preterm infants admitted to NICU at community hospital, Mashhad, Iran.Method ROP screening was done for infants that admitted to NICU weighing less than 1500 mg and a gestational age of 32 weeks or less was conducted from January 2018 to 2019 in.A total of 149 neonates (89 males and 60 females) underwent retinal evaluation using indirect ophthalmoscopy during the fourth week and were periodically followed up.
Prenatal risk factors of ROP were evaluated using univariate analysis.Results Of the 149 neonates under study, 42 were ROP positive out of whom 17 (40%) were at stage 2, 12 (29%) at stage 1, 2 (5%) at stage 3 and 2 (5%) at stage 4while19 (21%) of newborns were treated with Avastin injection.The results of univariate analysis showed that there was a significant difference between ROP occurrence and gestational age, birth weight and oxygen therapy duration.(p = 0.0001).However, there was no significant relationship between the ROP occurrence and gender (p = 0.55), stage of disease and gestation age (p = 0.208) and oxygen therapy duration (p = 0.314).

Conclusion
The estimated prevalence of ROP in this study was 28% that was higher than developed countries.Gestational age, oxygen therapy and low birth weight are known risk factors of ROP.The risk of ROP in a gestational age of less than 32 weeks is 4.2 times higher than the gestational age of more than 32 weeks.Therefore, it is essential to make plan for the most effective control over the predisposing factors like oxygen therapy, preventing premature delivering, and incidence of birth asphyxia in NICU. Retinopathy Reza Saeidi, 2 Azra Izanloo*, 2 Raheleh Habibnejad. 1 Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran, Islamic Republic of; 2 Razavi Cancer Research Center, Razavi Hospital, Imam Reza International University, Mashhad, Iran, Islamic Republic of 10.1136/archdischild-2019-epa.771 1 Adjagba Mahouna Philippe, 1 Tchiakpe Nicole. 1 Faculte Des Sciences De La Sante, Universite D'abomey-Calavi, Cotonou, Benin; 2 E Des Sciences De La Sante, Universite D'abomey-Calavi, Cotonou, Benin 10.1136/archdischild-2019-epa.772Introduction Pulse oximetry screening for critical congenital heart defect in newborn infants is not widely used even in developed countries.In Benin, the diagnosis of congenital heart disease is often late, making the surgical treatment impossible Arch Dis Child: first published as 10.1136/archdischild-2019-epa.771 on 12 June 2019.Downloaded from AbstractsA326ADC 2019;104(Suppl 3):A1-A428on October 31, 2023 by guest.Protected by copyright.http://adc.bmj.com/