Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases.

In this paper, two cases with mucolipidosis type II (I-cell disease) (proven in one presenting newborn and presumed in an elder deceased brother) are presented. These infants showed severe skeletal changes with diffuse periosteal new bone formation in long bones and ribs, marked osteopenia, and resorption of scapula, clavicula, and mandible. There was also irregular demineralization of metaphyses of long tubular bones, as seen in rickets. The activities of serum alkaline phosphatase and parathyroid hormone were markedly elevated. Phosphorus was decreased. Serum 1,25-dihydroxyvitamin D was slightly elevated, but 25-hydroxyvitamin D and calcium were normal. Dysostosis multiplex resembling rickets and very high alkaline phosphatase activity were due to defective osteoblastic activity, but the mechanism of elevated parathyroid hormone was not clear. We conclude that early skeletal manifestation of mucolipidosis type II is not clearly identified and that differentiation from congenital rickets or congenital hyperparathyroidism could be difficult. It is speculated that hyperparathyroidism in these patients could be related to the calcium-sensing receptor malfunction in the parathyroid gland.

Early prognostic significance of umbilical cord troponin I in critically ill newborns. Prospective study with a control group.

AIM: To determine the value of cord blood cardiac troponin I levels (cTnl) as an early prognostic factor in critically ill newborns, and to compare cord cTnl levels with the prognostic value of the score for neonatal acute physiology (SNAP). METHODS: Cord arterial samples were collected routinely for blood gas analysis, and cord venous samples for cTnl and cardiac-specific creatine kinase assay. The study group (n=109) comprised critically ill newborns who required mechanical ventilation. The control group (n = 96) comprised newborns who were either completely healthy (n = 48) or were followed in a level I neonatal care unit due to moderate-severity problems. RESULTS: The critically ill newborns had significantly higher cTnl levels than control babies (median [min-max] 1.4 [0-13] vs. 0 [0-1.8] ng/mL, respectively; P<0.001). In critically ill newborns, non-survivors had significantly higher cTnl levels than survivors (median [min-max] 6.6 [1.3-13.0] vs. 1.3 [0-8.0] ng/mL, respectively; P<0.001). Receiver-operator curve analysis revealed that, compared with SNAP, cTnl was a more sensitive predictor of mortality in critically ill newborns (area under curve=0.96; 95% CI=0.90-1.02). CONCLUSION: Significantly elevated cord cTnl may be a valuable predictor of mortality in critically ill newborns.