Pande Vineeta, Arora Amodini, Khan Md Owais Ali, Mane Shailaja
Pediatrics, Dr. D. Y. Patil Medical College, Hospital, and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Paediatrics, Dr. D. Y. Patil Medical College, Hospital, and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Cureus. 2024 Dec 5;16(12):e75150. doi: 10.7759/cureus.75150. eCollection 2024 Dec.
Miller Fisher syndrome (MFS) is a rare Guillain-Barré syndrome (GBS) variant. The global incidence of GBS is approximately one to two in 100,000 children (aged 0 to 15 years) per year. Miller Fisher syndrome represents a further small subset, with the incidence being one to two in 1,000,000 children. It affects all age groups; however, adult males are more commonly affected, with a male-to-female ratio of 2:1. It usually presents with a triad of ataxia, areflexia, and ophthalmoplegia. The hallmark sign of MFS is ophthalmoplegia, with internal ophthalmoplegia being more common. Pupillary response may vary from sluggishly reactive to non-reactive. The external ophthalmoplegia observed in MFS is bilateral and symmetrical, but some unilateral cases have also been reported. Internal and external ophthalmoplegia occurring together in a pediatric patient has not been reported in the literature to the best of our knowledge. Thus, we are reporting this case to highlight the rare presentation of internal and external ophthalmoplegia in a pediatric patient. Here, we present a case of a 10-year-old male child who presented with sudden onset ataxia, headache, blurring of vision, diplopia, and four-quadrant eye movement restriction. On examination, the child was overweight and had external and internal ophthalmoplegia (third, fourth, and sixth cranial nerve involvement) with ataxia and hypertension. There were no motor deficits or any other cranial nerve involvement. The GBS variant was considered the initial diagnosis. There was no history of previous infection. We investigated the case, and a lumbar puncture was done. Cerebrospinal fluid (CSF) analysis was normal, and anti-GQ1b antibodies were present. The patient was started on steroids and intravenous immunoglobulin (IVIG) and recovered slowly. Most patients of MFS experience complete recovery within several weeks to months. Anti-GQ1b antibody positivity holds very crucial diagnostic value for MFS. IVIG and steroids are the treatments of choice for moderate to severe cases. This case report emphasizes the importance of suspecting and diagnosing MFS, particularly in pediatric patients and considering it as a differential diagnosis for acute-onset internal and external ophthalmoplegia with ataxia.
米勒-费希尔综合征（MFS）是一种罕见的吉兰-巴雷综合征（GBS）变异型。GBS在全球的发病率约为每年每10万名儿童（0至15岁）中有1至2例。米勒-费希尔综合征是GBS中更小的一个亚组，发病率为每100万名儿童中有1至2例。它可影响所有年龄组；然而，成年男性更常受累，男女比例为2:1。它通常表现为共济失调、腱反射消失和眼肌麻痹三联征。MFS的标志性体征是眼肌麻痹，其中眼内肌麻痹更为常见。瞳孔反应可能从反应迟钝到无反应不等。MFS中观察到的眼外肌麻痹是双侧对称的，但也有一些单侧病例的报道。据我们所知，儿科患者同时出现眼内肌和眼外肌麻痹的情况在文献中尚未见报道。因此，我们报告此病例以突出儿科患者中眼内肌和眼外肌麻痹这种罕见表现。在此，我们报告一例10岁男性儿童，该患儿突然出现共济失调、头痛、视力模糊、复视以及四个象限的眼球运动受限。检查发现，该患儿超重，伴有眼外肌和眼内肌麻痹（累及第三、第四和第六对脑神经），同时伴有共济失调和高血压。无运动功能缺损或其他脑神经受累情况。最初诊断考虑为GBS变异型。既往无感染史。我们对该病例进行了调查，并进行了腰椎穿刺。脑脊液（CSF）分析正常，且存在抗GQ1b抗体。患者开始接受类固醇和静脉注射免疫球蛋白（IVIG）治疗，恢复缓慢。大多数MFS患者在数周至数月内完全康复。抗GQ1b抗体阳性对MFS具有非常关键的诊断价值。IVIG和类固醇是中重度病例的首选治疗方法。本病例报告强调了怀疑和诊断MFS的重要性，尤其是在儿科患者中，并将其作为急性起病的伴有共济失调的眼内肌和眼外肌麻痹的鉴别诊断。
