Hendriksen Ruben G F, Aalbers Marlien W, Hendriksen Jos G M, de Die-Smulders Christine E M, Hoogland Govert, Vles Johan S H
Department of Neurology, Maastricht University Medical Centre, Maastricht, the Netherlands.
Department of Neurosurgery, Groningen University Medical Centre, Groningen, the Netherlands.
Child Neurol Open. 2016 Apr 19;3:2329048X16642948. doi: 10.1177/2329048X16642948. eCollection 2016 Jan-Dec.
We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurological disorders may overshadow each other. In addition, it demonstrates that every child with cerebral palsy and either an atypical clinical course or with inexplicable laboratory values-as well as every infant boy born to a theoretical Duchenne muscular dystrophy carrier-should be subjected to additional investigations.
一名目前12岁的患有脑瘫和癫痫的男孩,后来又被诊断出患有杜氏肌营养不良症。我们描述了导致这一特殊诊断的临床过程。本病例报告说明了不同的神经系统疾病可能如何相互掩盖。此外,它表明,每一个患有脑瘫且临床病程不典型或实验室检查结果无法解释的儿童,以及每一个理论上为杜氏肌营养不良症携带者所生的男婴,都应接受进一步检查。