Khan Hamza Hassan, Parr Lauren, Jay Allison, Raza Saleem, Lyons Hernando, Kumar Sanjay
Department of Pediatrics, Ascension St. John Children's Hospital, Detroit, MI, USA.
Department of Medical Genetics, Ascension St. John Children's Hospital, Detroit, MI, USA.
Case Rep Pediatr. 2020 Sep 18;2020:8836534. doi: 10.1155/2020/8836534. eCollection 2020.
We report a case of a 17-month-old male with a history of developmental delay with poor muscle control, hepatomegaly, and transaminitis. Ultrasound of abdomen revealed hepatomegaly with a liver span of 13 cm, homogeneous parenchyma, and normal spleen size. Liver and muscle biopsies were obtained: the liver biopsy revealed distended hepatocytes with excessive glycogen accumulation and fine septate fibrosis. Biopsy of the right vastus lateralis muscle showed focal swollen glycogen containing mitochondria. For the developmental delay, a chromosomal microrarray was ordered. The chromosomal microarray revealed the patient to have 1q21 duplication syndrome and 16p11.2 deletion syndrome. Given the liver and muscle biopsy findings, a glycogen storage disease panel was sent which identified the patient to be hemizygous for a variant of uncertain significance denoted as p.Gly 131Val, c.392G > T in the PHKA2 gene. PKHA2 gene encodes the alpha subunit of hepatic phosphorylase kinase. This change in the PHKA2 gene was in a highly conserved region and had been reported in another patient with decreased enzymatic activity of the phosphorylase kinase and who had symptoms of GSD IX. Based on this, the patient was started on treatment for GSD IX, and his family met with a dietician.
我们报告一例17个月大的男性患儿，有发育迟缓病史，伴有肌肉控制能力差、肝肿大和转氨酶升高。腹部超声显示肝肿大，肝左右径为13厘米，实质均匀，脾脏大小正常。进行了肝脏和肌肉活检：肝脏活检显示肝细胞肿大，糖原过度蓄积，并有细的间隔纤维化。右侧股外侧肌活检显示含有线粒体的局灶性肿胀糖原。针对发育迟缓，安排了染色体微阵列检测。染色体微阵列检测显示该患者患有1q21重复综合征和16p11.2缺失综合征。鉴于肝脏和肌肉活检结果，送检了糖原贮积病检测组，结果显示该患者在PHKA2基因中存在一个意义未明的变异体，半合子状态，记为p.Gly 131Val，c.392G＞T。PKHA2基因编码肝磷酸化酶激酶的α亚基。PHKA2基因的这一变化位于高度保守区域，在另一名磷酸化酶激酶酶活性降低且有糖原贮积病IX型症状的患者中也有报道。基于此，该患者开始接受糖原贮积病IX型的治疗，其家人与营养师进行了面谈。
