• Kai Ma, Dong Wang, Wandong Hu, Jie Wang, Chunmei Yu, Zhenqiong Cui, and Fangfang Liu.
• Department of Neurology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
• Medicine (Baltimore). 2024 Aug 2; 103 (31): e39076e39076.

RationaleBoth spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function. But if only 1 disease is treated while neglecting the other, the treatment effect will be compromised. Here, for the first time, we report a case from China diagnosed with both these diseases and treated properly.Patient ConcernsA boy was admitted to the Children's Hospital Affiliated to Shandong University (Jinan, China) due to "limb weakness for 19 months" when he was 22 months old. Considering that the child's motor function development is delayed, we made a comprehensive examinations including inherited metabolic diseases and found a significantly increase of phenylalanine concentration in the blood which indicating PKU. Combined with his typical clinical manifestations of SMA, target capture sequencing followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) technologies were used for genetic confirmation.DiagnosesSMA and PKU was confirmed.InterventionsThe child was treated with risdiplam and low phenylalanine formula immediately when he was diagnosed with both SMA and PKU.OutcomesThe child showed remarkable improvement in motor function and significant decrease of blood phenylalanine concentration after treatment.LessonsTo our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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