Türker Gülcan, Hatun Sükrü, Gülleroğlu Kaan, Cizmecioğlu Filiz, Gökalp Aye S, Cokun Turgay
Department of Pediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.
Turk J Pediatr. 2005 Oct-Dec;47(4):376-8.
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.
本文报告了两例II型粘脂贮积症（I型细胞病）患者（其中一例为新生儿，诊断明确；另一例为已故兄长，为推测诊断）。这些婴儿表现出严重的骨骼改变，长骨和肋骨有弥漫性骨膜新生骨形成，明显的骨质减少，肩胛骨、锁骨和下颌骨骨质吸收。长管状骨干骺端也有不规则的骨质脱矿，类似佝偻病表现。血清碱性磷酸酶和甲状旁腺激素活性显著升高。磷降低。血清1,25 - 二羟维生素D略有升高，但25 - 羟维生素D和钙正常。类似佝偻病的多发性骨发育异常和极高的碱性磷酸酶活性是由于成骨细胞活性缺陷所致，但甲状旁腺激素升高的机制尚不清楚。我们得出结论，II型粘脂贮积症的早期骨骼表现尚不明确，与先天性佝偻病或先天性甲状旁腺功能亢进症鉴别困难。推测这些患者的甲状旁腺功能亢进可能与甲状旁腺中钙敏感受体功能异常有关。
