Tudor Lazaruc, Iuliana Magdalena Starcea, Anca Ivanov, Georgiana Scurtu, Maria Adriana Mocanu, Vasile Valeriu Lupu, Ancuta Lupu, Roxana Alexandra Bogos, Ingrith Miron, Lavinia Bodescu Amancei – Ionescu
We present a case study who underlines the complexity of a rare form of microcephalic primordial dwarfism, also known as Seckel syndrome. This autosomal recessive disease, although very rare, requires a multidisciplinary approach in order to manage the neurologic, cardiovascular, hematologic, endocrinologic, metabolic and kidney related complications. Being a congenital nanosomic disorder, this condition can be suspected before birth if late second-semester or third-semester ultrasound indicates microcephaly in the context of symmetrical intrauterine growth restriction and the hallmark of a “bird-headed” appearance. Although born at normal gestational age, these patients have a very small birth-weight. Further in life, developmental issues with mild to moderate mental retardation install. Here, we present the case of an adult patient who was diagnosed during childhood, who needed specialized nephrological pediatric assistance because of her anthropometrical characteristics and end-stage renal disease (ESRD) of an uncertain etiology which required extra-renal epuration.