Goyal Chanan, Goyal Vivek, Naqvi Waqar M
Community Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Paediatric Physiotherapy, Government Physiotherapy College, Raipur, IND.
Cureus. 2021 Jun 5;13(6):e15459. doi: 10.7759/cureus.15459. eCollection 2021 Jun.
Trisomy 10p is a rare entity to be diagnosed and so is terminal 14q deletion. The total number of trisomy 10p cases reported to date is estimated to be in double digits. The number of terminal 14q deletion cases that have been reported in the literature is even lesser than that of trisomy 10p. Simultaneous occurrence of these genetic aberrations is, therefore, extremely rare. Herein, we document a case of a 14-month-old female diagnosed with trisomy 10p and terminal 14q deletion, who presented with an inability to sit without support and had difficulty in holding her neck. She had no means of independent indoor mobility, which was further limiting her development by exploration. Clinical features included hypotonia, developmental delay, extraneous movements of the head and tongue, intellectual impairment, and facial dysmorphism. She could maintain tripod sitting for less than a minute. Physiotherapy intervention was based on principles of neurodevelopmental treatment and sensory integration. After nine months of physiotherapy intervention, her total gross motor function measure (GMFM) score improved from 11% to 40%. The functional gains were maintained with a home exercise program, after almost one year of discontinuation of institution-based physiotherapy. To the best of our knowledge, this is the first report on the management of a child with the diagnosis of trisomy 10p along with terminal 14q deletion. Further research on the role of early intervention to maximize functional potential in rare genetic conditions is warranted.
10号染色体短臂三体是一种罕见的待诊断病症，14号染色体长臂末端缺失也是如此。迄今为止报道的10号染色体短臂三体病例总数估计为两位数。文献中报道的14号染色体长臂末端缺失病例数甚至比10号染色体短臂三体病例数还要少。因此，这些基因异常同时出现极为罕见。在此，我们记录了一例14个月大的女性病例，该患者被诊断为10号染色体短臂三体和14号染色体长臂末端缺失，表现为无法在无支撑的情况下独坐，且难以支撑头部。她无法独立在室内活动，这进一步限制了她通过探索来实现的发育。临床特征包括肌张力低下、发育迟缓、头部和舌头的多余动作、智力障碍以及面部畸形。她保持三脚架坐姿的时间不到一分钟。物理治疗干预基于神经发育治疗和感觉统合原则。经过九个月的物理治疗干预，她的总粗大运动功能测量（GMFM）评分从11%提高到了40%。在停止机构物理治疗近一年后，通过家庭锻炼计划维持了功能改善。据我们所知，这是关于一名同时诊断为10号染色体短臂三体和14号染色体长臂末端缺失患儿治疗的首例报告。有必要进一步研究早期干预在罕见遗传疾病中发挥最大功能潜力的作用。
