Mazzanti L, Ambrosetto P, Libri R, Pascarella R, Balsamo A, Tani G
1st Paediatric Clinic, University of Bologna, Bologna, Italy.
Pediatr Radiol. 1999 Jan;29(1):16-8. doi: 10.1007/s002470050525.
Chronic idiopathic hyperphosphatasia (CIH) is a rare generalised skeletal dysplasia in childhood. The clinical, radiographic and cerebral MR findings in a 5-year-old girl with the severe infantile form of CIH are reported. In spite of cranial enlargement, the intracranial space and the skull base were markedly reduced, the whole brain was compressed and a Chiari I malformation was present. Normal flow in the dural venous sinuses was documented. The patient showed no detectable cranial nerve involvement or hydrocephalus. Cranial MR in this patient enabled us to confirm that CIH involves the skull base and vault.
慢性特发性高磷酸酶血症（CIH）是一种罕见的儿童期全身性骨骼发育异常。本文报道了一名患有严重婴儿型CIH的5岁女孩的临床、影像学及脑部磁共振成像（MR）表现。尽管存在颅骨增大，但颅内空间和颅底明显缩小，整个大脑受到压迫，且存在Chiari I型畸形。硬脑膜静脉窦血流正常。该患者未发现可检测到的颅神经受累或脑积水情况。该患者的头颅MR使我们能够确认CIH累及颅底和颅顶。
