Nagara Syunsuke, Usui Shinji, Kawashiri Miwa, Kondo Masashi, Yamagishi Atsushi
Department of Pediatrics, Japanese Red Cross Takayama Hospital, Gifu, Japan.
Department of Neonatology, Gifu Prefectural General Medical Center, Gifu, Japan.
Clin Pediatr Endocrinol. 2021;30(1):71-73. doi: 10.1297/cpe.30.71. Epub 2021 Jan 5.
We report the case of a boy with partial skull defects in addition to widespread craniotabes due to vitamin D deficiency rickets. He was born at 30 wk and 4 d of gestation (birth weight, 2406 g). At 77 d of age, clinical examination of the head revealed widespread craniotabes of the occipital region centered around the lambda suture, and palpation revealed a defect of about 1 cm in the parietal bone of the left occipital region. Cranial computed tomography showed thinning of the cortex and bone defects in the parietal bones bilaterally, as well as in the left occipital bone. At 3 mo of age, he was diagnosed with vitamin D deficiency rickets and was administered alfacalcidol for 4 mo. Although patients with vitamin D deficiency rickets are prone to fractures, bone defects, as in this case, have not been reported. In addition to vitamin D deficiency rickets, the causes of the bone defects, in this case, are hypothesized to be abnormalities in the Ras-mitogen activated protein kinase pathway associated with Noonan syndrome, and long-term compression of the back of the head. However, there are no other similar reports, and further ones need to be accumulated.
我们报告了一名因维生素D缺乏性佝偻病导致广泛性颅骨软化以及部分颅骨缺损的男孩病例。他出生时孕周为30周零4天（出生体重2406克）。77日龄时，头部临床检查发现枕部以人字缝为中心广泛性颅骨软化，触诊发现左枕部顶骨有一处约1厘米的缺损。头颅计算机断层扫描显示双侧顶骨以及左枕骨皮质变薄和骨缺损。3月龄时，他被诊断为维生素D缺乏性佝偻病，并接受了4个月的阿法骨化醇治疗。虽然维生素D缺乏性佝偻病患者容易发生骨折，但如此病例中的骨缺损此前尚未见报道。除维生素D缺乏性佝偻病外，推测该病例中骨缺损的原因是与努南综合征相关的Ras-丝裂原活化蛋白激酶途径异常以及头部后部的长期受压。然而，尚无其他类似报道，需要积累更多病例。
