An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

摘要: Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in case maternal phenylketonuria, foetus. The phenylketonuria syndrome caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly mental retardation. We report on affected Albanian woman her seven children. mother a compound heterozygote for two pathogenetic mutations, L48S P281L. diagnosis was only made context children, all whom have at least one organic malformation. first child, 17 years old, has double-chambered right ventricle, vertebral malformations epilepsy. She also mentally retarded, microcephalic, exhibits facial dysmorphies small stature. second girl 15 age, retardation microcephaly, stature various dysmorphic features. next sibling, boy, died tetralogy Fallot age three months. He had multiple rib malformations. subsequent girl, now eleven retardation, epilepsy along dysmorphy, partial deafness short eight-year-old child slightly retarded microcephalic. A five-year-old boy premature, dystrophic baby features, brachydactyly clinodactyly fifth finger both hands. Following miscarriage, our index case, youngest microcephalic shows minor anomalies. All children exhibit features embryopathy because not been diagnosed earlier and, therefore, never received any diet. This largest family suffering from reported literature. Maternal remains challenge, countries without neonatal screening program. Therefore, it mandatory be alert possibility clinical described here prevent siblings.