RESUMO
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type. CASE PRESENTATION: A 2-month-19-day-old male child presented with symptoms of limited movement and discomfort with movement in the extremities. His sister, who had similar clinical findings, was diagnosed with tetralogy of Fallot and died at 6 months of age. A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long bones, limited movement in both knees and elbows and axial hypotonicity. Laboratory analyses revealed normal ammonia, lactate, plasma and urine amino acids, long chain fatty acids and phytanic acid levels. Rhizomelia, significant metaphyseal expansion, irregularities in the cortex, loss of ossification, fragmented appearance and punctate calcifications in both elbows, both knees and in the femoral epiphysis were seen on the skeletal survey. A homozygote p.L70W (c.209T>G) mutation was found in the PEX7 gene. CONCLUSIONS: Plasma phytanic acid levels can be normal in a patient with type 1 RCDP that develops as a result of a PEX7 gene mutation, as in our case. A molecular genetic analysis and/or fibroblast culture must be conducted in clinically suspicious cases. While no cardiac pathology was found in our case, tetralogy of Fallot was present in his sister with similar clinical findings. The presence of different cardiological phenotypes in the sibling suggested that the genotype-phenotype correlation may not be complete in this disorder.
Assuntos
Condrodisplasia Punctata Rizomélica/genética , Mutação , Receptor 2 de Sinal de Orientação para Peroxissomos/genética , Homozigoto , Humanos , Lactente , Masculino , FenótipoRESUMO
La canalización de los vasos umbilicales es un procedimiento frecuente en las unidades de cuidados intensivos neonatales, especialmente en los recién nacidos de muy bajo peso al nacer. Raras veces el catéter arterial umbilical se rompe; los fragmentos retenidos pueden provocar trombosis, infección, embolización distal e incluso la muerte. En este artículo, describimos el caso de un recién nacido con isquemia bilateral, clínicamente significativa, de las extremidades que se manifestó después de la extracción de un catéter arterial umbilical roto. Estaba recibiendo tratamiento vasodilatador junto con fibrinolíticos y anticoagulantes. La evolución fue favorable.
Umbilical vessel catheterization is a common procedure in Neonatal Intensive Care Units, especially in very low birthweight infants. Rarely, umbilical artery catheters break, and the retained fragments can cause thrombosis, infection, distal embolization, and even death. Herein, we describe a neonate with clinically significant bilateral limb ischemia developing after removal of a broken umbilical artery catheter. He was under vasodilator treatment in addition to fibrinolytic and anticoagulants. The evolution was favourable.
Assuntos
Humanos , Masculino , Recém-Nascido , Arteriopatias Oclusivas/etiologia , Artérias Umbilicais , Cateteres de Demora/efeitos adversos , Recém-Nascido de muito Baixo Peso , Falha de EquipamentoRESUMO
La canalización de los vasos umbilicales es un procedimiento frecuente en las unidades de cuidados intensivos neonatales, especialmente en los recién nacidos de muy bajo peso al nacer. Raras veces el catéter arterial umbilical se rompe; los fragmentos retenidos pueden provocar trombosis, infección, embolización distal e incluso la muerte. En este artículo, describimos el caso de un recién nacido con isquemia bilateral, clínicamente significativa, de las extremidades que se manifestó después de la extracción de un catéter arterial umbilical roto. Estaba recibiendo tratamiento vasodilatador junto con fibrinolíticos y anticoagulantes. La evolución fue favorable.(AU)
Umbilical vessel catheterization is a common procedure in Neonatal Intensive Care Units, especially in very low birthweight infants. Rarely, umbilical artery catheters break, and the retained fragments can cause thrombosis, infection, distal embolization, and even death. Herein, we describe a neonate with clinically significant bilateral limb ischemia developing after removal of a broken umbilical artery catheter. He was under vasodilator treatment in addition to fibrinolytic and anticoagulants. The evolution was favourable.(AU)
RESUMO
Umbilical vessel catheterization is a common procedure in Neonatal Intensive Care Units, especially in very low birthweight infants. Rarely, umbilical artery catheters break, and the retained fragments can cause thrombosis, infection, distal embolization, and even death. Herein, we describe a neonate with clinically significant bilateral limb ischemia developing after removal of a broken umbilical artery catheter. He was under vasodilator treatment in addition to fibrinolytic and anticoagulants. The evolution was favourable.
