Galvez-Ruiz Alberto, Chaudhry Imtiaz
Ophthalmology Service, Hospital del MarBarcelonaSpain; King Khaled Eye Specialist HospitalRiyadhSaudi Arabia.
King Khaled Eye Specialist Hospital Riyadh Saudi Arabia.
Neuroophthalmology. 2013 May 31;37(3):129-132. doi: 10.3109/01658107.2013.792355. eCollection 2013.
Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-year-old patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.
尽管缺乏型是佝偻病最常见的表现形式,但还有其他类型的佝偻病对维生素D具有抵抗性。其中,最常见的是X连锁低磷血症性佝偻病。佝偻病代表一组多种颅骨疾病——颅骨缝早闭和Chiari I畸形的存在最为显著——这些疾病解释了颅内压升高的原因。我们报告一名4岁患者,患有X连锁低磷血症性佝偻病、双侧眼球突出和双侧视神经鞘显著增宽的罕见关联。尽管颅内高压与佝偻病之间的关联是已知的,但据我们所知,此前尚未描述过这种没有视乳头水肿的视神经蛛网膜下腔如此显著的扩张。