caa a22 4500 475784197 CHVBK 20180406123653.0 cr unu---uuuuu 170329e20000501xx s 000 0 eng 10.1007/s004310051297 doi (NATIONALLICENCE)springer-10.1007/s004310051297 Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate [Elektronische Daten] [D. Popp, B. Zieger, W. Nützenadel, F. Schaefer, A. Schmitt-Gräff] A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis. Conclusion Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels. Springer-Verlag Berlin Heidelberg, 2000 Key words Malignant infantile osteopetrosis nationallicence Rickets nationallicence Neonate nationallicence Vitamin D deficiency nationallicence Abbreviations25OHD 25-Hydroxyvitamin D nationallicence 1,25(OH)2D 1,25-Dihydroxyvitamin D nationallicence PTH Parathyroid hormone nationallicence ALP Alkaline phosphatase nationallicence Popp D. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut Zieger B. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut Nützenadel W. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut Schaefer F. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut Schmitt-Gräff A. Department of Pathology, University of Freiburg, Freiburg, Germany, DE aut https://doi.org/10.1007/s004310051297 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310051297 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Popp D. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut NATIONALLICENCE 700 1- Zieger B. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut NATIONALLICENCE 700 1- Nützenadel W. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut NATIONALLICENCE 700 1- Schaefer F. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany, DE aut NATIONALLICENCE 700 1- Schmitt-Gräff A. Department of Pathology, University of Freiburg, Freiburg, Germany, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer