Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with s...Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ventricles. Usually, infants with this disorder do not live long. This unfor-tunate little patient died at 5 weeks age from pneumonia. We emphasize the importance of antenatal screening for these disorders especially when a family history of dysmorphism is positive.展开更多
文摘Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. We report the case of a newborn white male that developed seizures and skeletal dysmorphism. The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ventricles. Usually, infants with this disorder do not live long. This unfor-tunate little patient died at 5 weeks age from pneumonia. We emphasize the importance of antenatal screening for these disorders especially when a family history of dysmorphism is positive.
