Beware of missed diagnosis in patients with multiple genetic diseases: a case report

Abstract

Abstract Background Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervous system caused by the absence of the products of the CCM genes. Most CCMs cases reported occurring in a sporadic form are often asymptomatic. Case presentation We report a rare case of a 7-year-old Chinese boy with a co-existing DMD and sporadic CCMs. We found classic clinical features of DMD and non-specific pathological changes in his brain. We made the definitive diagnosis based on the results of whole-exome sequencing (WES), a repeat from exon 3 to exon 9 of the DMD inherited from his mother, and a de novo heterozygote nonsense mutation C.418G > T of the PDCD10 exon 6. Conclusion We should take care to avoid missed diagnoses in patients with multiple genetic disorders.

Keywords

• Duchenne muscular dystrophies
• Cerebral cavernous malformations
• DMD gene
• PDCD10 gene
• Whole-exome sequencing
• Case report