Ophthalmological And Systemic Findings Associated With Arthrogryposis Multiplex Congenita

Rohit Sharma; Priyanka Sharma; Jyoti Raina

摘要

Arthrogryposis multiplex congenital (AMC) is a birth defect characterised by multiple joint contractures and is associated with various other congenital abnormalities. Various systemic associations like cleft palate, low set ears, gastrointestinal (GI) abnormalities, congenital heart defects, hypoplastic lungs and cryptorchidism have been described with this syndrome.A detailed clinical examination comprising of ophthalmic , orthopaedic, paediatric, orthoptic, ENT, haematologic and neurologic review of two babies with AMC was undertaken.These cases presented some never before described ocular and systemic abnormalities in association with AMC. We suggest a close multidisciplinary follow up on all cases of arthrogryposis multiplex congenita to detect, report and better understand these associations. Introduction Arthrogryposis multiplex congenital (AMC) is a birth defect characterised by multiple joint contractures and is associated with various other congenital abnormalities. The syndrome was first reported by Otto in 1841 as “congenital myodystrophy”(1). The reported incidence is 3 in 10,000 live births(2). The abnormality according to Banker(3) was neurogenic in origin (93%) as opposed to myopathic origin (7%) ,but Strehl and Vanasse, studied 24 cases, who underwent muscle biopsy and EMG, which showed that 40% were myopathic disorder(4).Irrespective of these, there are two common features i) onset in utero and ii) primary alteration in one structure comprising the final common pathway (anterior horn cells, roots, peripheral nerves, motor end plates, or muscles) leading to decreased fetal movement during pregnancy. The affected muscles clinically appear normal, atrophic, or absent but histologically they usually show fatty or fibrous tissue infiltration(3).Treatment of AMC involves physical therapy, serial casting and finally surgery(5,6).Various systemic associations like cleft palate, low set ears, gastrointestinal (GI) abnormalities, congenital heart defects, hypoplastic lungs and cryptorchidism have been described with this syndrome. We present two babies with AMC and unfamiliar anomalies of sickle cell anemia and G6PD deficiency.We present the unusual and never before reported finding of unsteady fixation and delayed maturation of fixation in two babies with AMC. Method A detailed clinical examination including complete ophthalmic assessment, orthopaedic, paediatric, orthoptic, otorhinolaryngologist (ENT) , haematologist and neurologist review of two babies with AMC was undertaken. Case Reports Case 1 : She was a full term normal vaginal delivery in hospital setting with a birth weight of 7 lbs and 2 oz. Diagnosis of AMC was made at birth due to the presence of multiple joint contractures and talipes. Contractures were worse in lower limbs and was managed on splintage and physiotherapy. She was born with congenital pneumonia. Systemic abnormalities in this child included sickle cell anemia, laryngomalacia, severe gastroesophageal reflux and cleft palate. The neonate required ventilation in hospital in the initial period and phased therapy to combat various anomalies. At the age of 6 months she was diagnosed to have otitis media with effusion impairing her hearing. Subsequent to grommet insertion her hearing improved in both ears. At 10 months of age she had an episode of bronchiolitis which was successfully treated. The patient was first seen by us at the age of 3 months because the child did not appear to fix the objects and follow them well. Pupils were equal on both sides and were equally reacting. She had faint cortical cataract in both eyes which were not obscuring central vision. Fundus was normal on both sides. Refraction under atropine revealed a myopia of about 6 diopters in both eyes for which she was prescribed spectacles. She was next seen at age of 6 months. Unsteady fixation persisted. There was moderate right divergent squint, left hypertropia , and intermittent fine nystagmus right eye. The horizontal ext

机译：多发性先天性关节炎（AMC）是一种先天性缺陷，其特征是多个关节挛缩，并与其他各种先天性异常有关。该综合征已被描述为多种系统性关联，例如c裂，下垂耳朵，胃肠道（GI）异常，先天性心脏缺陷，肺发育不全和隐睾症。对2名AMC婴儿进行了神经系统检查，这些病例表现出一些以前从未描述过的与AMC相关的眼部和全身异常。我们建议对多发性先天性关节炎的所有病例进行密切的多学科随访，以发现，报告和更好地了解这些关联。引言多发性先天性关节炎（AMC）是一种先天性缺陷，以多个关节挛缩为特征，并伴有其他各种先天性异常。该综合征最初由Otto于1841年报告为“先天性肌营养不良症”（1）。报告的发病率为10,000例活产中的3例（2）。 Banker（3）的异常是神经源性的（93％），而不是肌病性的（7％），但是Strehl和Vanasse研究了24例接受肌肉活检和肌电图检查的患者，其中40％是肌病性疾病。（4）。不管这些，有两个共同特征：i）子宫内发作和ii）包含最终共同通路（前角细胞，根，周围神经，运动终板或肌肉）的一种结构的主要改变怀孕期间胎儿运动减少。受累的肌肉在临床上看起来正常，萎缩或缺失，但在组织学上通常表现为脂肪或纤维组织浸润（3）.AMC的治疗涉及物理疗法，连续铸造以及最后的手术（5,6）。该综合征已被描述为低耳，胃肠（GI）异常，先天性心脏缺陷，肺发育不良和隐睾症。我们介绍了2名AMC婴儿以及镰状细胞贫血和G6PD缺乏症的陌生异常。我们报道了2名AMC婴儿的不稳定固定和固定成熟延迟的异常和从未报道过的报道。方法对两名患有AMC的婴儿进行全面的眼科评估，骨科，儿科，骨科，耳鼻喉科医师（ENT），血液科医师和神经科医师复查，进行详细的临床检查。病例报告病例1：她在医院环境中足月正常分娩，出生体重7磅2盎司。由于存在多个关节挛缩和滑石，在出生时进行了AMC的诊断。下肢挛缩更严重，并通过藤蔓和物理疗法进行处理。她出生时患有先天性肺炎。这个孩子的全身异常包括镰状细胞性贫血，喉软化，严重的胃食管反流和c裂。新生儿在初期需要在医院进行通气，并需要分阶段进行治疗以应对各种异常情况。在6个月大的时候，她被诊断患有中耳炎，积液损害了她的听力。插入垫圈后，两只耳朵的听力均得到改善。在10个月大时，她发生了细支气管炎发作，并得到了成功治疗。我们在3个月大时首次见到该患者，因为孩子似乎没有固定好这些物体并不能很好地跟随它们。双方的学生平等，并且反应平等。她的两只眼睛都患有隐隐可见的皮质性白内障，并未掩盖中央视力。双方眼底都正常。在阿托品的折射下，两只眼睛的近视度数约为6屈光度，她被配戴了眼镜。接下来她的年龄为6个月。不稳定的注视持续存在。伴有中度右斜视斜视，左眼肌增生和右眼间歇性细眼震。水平扩展

Ophthalmological And Systemic Findings Associated With Arthrogryposis Multiplex Congenita

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