3 documents found, page 1 of 1
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on ...
Marques, Lúcia; Lipari Pinto, Patrícia; Loureiro Cadilha, Hugo; Janeiro, Patrícia; Gaspar, AnaGlutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces. We present the case of an infant with macrocephaly since birth, diagnosed with glutaric aciduria type 1 through newborn screening, who exhibited accelerated cephalic growth during follow-up. At eight months of age, cranial magnetic resonance imaging...
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health ...
Lipari Pinto, Patrícia; Florindo, Cristina; Janeiro, Patrícia; Santos, Rita Loureiro; Mexia, Sandra; Rocha, Hugo; Tavares de Almeida, IsabelThe early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thrive. We assess the usefulness of the early detection of asymptomatic B12 deficiency related to acquired conditions and highlight the importance of monitoring serum vitamin B12 l...
Inborn errors of metabolism in a tertiary pediatric intensive care unit
Lipari Pinto, Patrícia; Shchomak, Zakhar; Boto, Leonor; Janeiro, Patrícia; Moldovan, Oana; Abecasis, Francisco; Gaspar, Ana; Vieira, MarisaFew studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic refe...