Osimani Sara, Husson Isabelle, Passemard Sandrine, Elmaleh Monique, Perrin Laurence, Quelin Chloé, Marey Isabelle, Delalande Olivier, Filocamo Mirella, Verloes Alain
Department of Genetics, AP-HP Robert DEBRE University Hospital, Paris, France.
Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5.
Uncommon features of rare genetic disorders are often poorly known, as the likelihood of having them reported is low. We describe a 7-year-old boy with clinical and radiological diagnosis of pycnodysostosis, and c.436G>C (p.G146R) mutation in CSTK). He developed intracranial hypertension that required surgical decompression. Despite patent fontanels, the cause of the intracranial hypertension was identified to be a combination of coronal and metopic craniosynostoses. Intracranial hypertension and craniosynostosis have only been reported once in pycnodysostosis, which is on the contrary characterized by delayed closure of the sutures and persistence of open fontanels. Our observation confirms that intracranial hypertension represents a rare but life-threatening complication of pycnodysostosis. We strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients.
罕见遗传疾病的不常见特征往往鲜为人知，因为报告这些特征的可能性很低。我们描述了一名7岁男孩，临床和影像学诊断为致密性骨发育不全，并且在CSTK基因中存在c.436G>C（p.G146R）突变。他出现了颅内高压，需要进行手术减压。尽管囟门未闭，但颅内高压的原因被确定为冠状缝和额缝早闭共同作用的结果。颅内高压和颅缝早闭在致密性骨发育不全中仅被报道过一次，而致密性骨发育不全的特征恰恰相反，是缝线闭合延迟和囟门持续开放。我们的观察证实，颅内高压是致密性骨发育不全一种罕见但危及生命的并发症。我们强烈建议在对这些患者进行系统的临床随访时，纳入眼底系统检查和头围监测。
