Introduction

Möbius syndrome, a rare congenital neurological disorder, is characterized by facial paralysis and limited eye movement due to cranial nerve deficits. Beyond these primary features, it often presents with additional cranial nerve palsies, orofacial anomalies, and musculoskeletal defects, contributing to a complex clinical profile [1]. While the etiology of Möbius syndrome remains unclear, recent studies have started to shed light on potential genetic factors [2]. Since its initial description by Von Graefe in 1880 and later by Moebius in 1888, over 300 cases have been reported worldwide [3,4,5,6,7,8,9], reflecting its global occurrence.

Rehabilitation plays a pivotal role in the management of Möbius syndrome, and the role of rehab has been explained previously in published case studies. Early initiation of speech and physical rehabilitation therapies is recommended to improve speech, language, swallowing, and motor skills coordination [10]. Problems with sucking and feeding among infants should prompt early audiology and speech therapy assessments and rehabilitation. Furthermore, the enhancement of motor and sensory abilities through early rehabilitation, coupled with parental support, can significantly impact the long-term physical and psychological prognosis of children with Möbius syndrome [11]. Orofacial and limb deformities, when present, may be corrected through surgical interventions, further improving rehabilitation outcomes [12,13,14]. It is essential that diagnosis and rehabilitation commence concurrently, with rehabilitative interventions updated over time in response to functional assessments.

This paper presents a comprehensive case of a 4-year-old female born with Möbius syndrome, accompanied by a constellation of associated symptoms, including syndactyly, clubfoot, and G-tube dependence. The patient’s journey highlights the intricate nature of this disorder and underscores the importance of a holistic approach, particularly in the realm of pediatric Physical medicine and rehabilitation (PM&R).

Case presentation

We present a 4-year-old female patient who was born in Ecuador via cesarean section at 35 weeks of gestation in May 2019. From birth, she exhibited muscle weakness predominantly localized to the cervical spine, resulting in notable deficits in head and trunk control. However, it is important to note that while cervical spine pathology may partially explain these deficits, additional factors likely contribute to her difficulties in trunk control. Unfortunately, we do not have access to data regarding her natural history and development before the age of 4, as the patient was abroad and only established care in the USA at that age.

The patient has been diagnosed with Möbius syndrome, a rare neurological disorder characterized by facial paralysis and limited eye movement due to underdeveloped cranial nerves. She presents with syndactyly and clubfoot, which are clinical signs of her condition, along with a G-tube for nutritional support due to her complex medical needs. Global developmental delay and congenital hypotonia further contribute to her complex motor challenges. Notably, the patient has experienced finger amputations, predominantly on the left side, along with occurrences of Bell’s palsy and bilateral talipes equinovarus. On physical examination at 4 years old, the patient opens their eye spontaneously, with decreased lateral extraocular movements, expressionless facies, and moist mucous membranes with excessive secretions. MRI at 3 years old demonstrated foci of increased T2 signal in the posterior basal ganglia, thalami internal capsule, and mild prominence of the fourth vertical with mild flattening of the dorsal pons.

Residing with her mother and two older sisters in an elevator-accessible apartment building, the patient’s living situation holds implications for her daily mobility and accessibility.

Functionally, the patient’s severe limitations are evident. Non-ambulatory since birth, she relies on a commercial stroller for mobility. Restricted range of motion spans her entire body, accompanied by compromised functional mobility across her extremities and core. Sporadically tight hip, knee, and ankle joints further restrict her movement. Her developmental delay renders her incapable of sitting, standing, walking, or utilizing her hands and lower extremities effectively.

Under the care of a comprehensive pediatric PM&R team, the patient follows an intensive physical therapy program, attending sessions twice a week. Her physical therapy regimen includes the following:

  • Sensory integrative techniques with manual stimulation.

  • Trunk rotation involving shoulders and hips moving in opposite directions.

  • Cervical spine extension/flexion training aimed at enhancing head control. Sensory facilitation is applied to her neck and spine, utilizing quick strokes.

  • Semi-Fowler positioning on a wedge.

  • Passive range of motion (PROM) and Active assisted range of motion (AAROM) exercises for bilateral upper and lower extremities.

  • Parent education and training to empower caregivers to continue exercises at home.

Additionally, the patient engages in an occupational therapy program, targeting both short- and long-term goals. Short-term goals encompass providing parents with passive range of motion exercises for all extremities and improving rolling activity by 20%. Parents are educated in various techniques to safely carry and position the child, preventing falls. Long-term goals, spanning 4 to 6 weeks, focus on transitioning to home-based therapy and evaluating the potential for school-based therapy. The patient received feeding therapy by occupational therapists. While family training was initiated, and education regarding the importance of family participation was commenced, it is noteworthy to mention that compliance has been suboptimal up to this point. Despite this challenge, the patient’s care team continues to actively work on improving compliance to enhance outcomes and optimize the potential of interdisciplinary care.

In addition to ongoing therapy, the patient will be provided with a manual tilt in space and a recline pediatric adaptive stroller with adjustable head and neck support, as well as torso/leg support. The patient will continue to be evaluated by a physiatrist every 3 months and at the wheelchair clinic every 6 months. The interdisciplinary approach continues to be paramount in the patient’s journey toward enhanced functional independence and an improved quality of life. The patient follows up with her Primary Care Physician regularly, including vision and hearing tests. The patient was recommended speech-language pathologist (SLP) consults and programs but has had not followed up with them any SLP just yet. Speech therapy has the potential to assist the patient, especially as it relates to swallow evaluation and therapy.

In summary, this case report illustrates a case of Möbius syndrome, which is a rare neurological disorder characterized by facial paralysis and limited eye movement. However, this case exemplifies that the syndrome’s presentation can extend far beyond primary features, often involving associated conditions that significantly impact a patient’s functional abilities and quality of life. In this report, we present a complex case of a 4-year-old female with Möbius syndrome, accompanied by a constellation of symptoms, including pronounced muscle weakness, syndactyly, clubfoot, and G-tube dependence. These clinical manifestations raised suspicions of an underlying syndrome and highlighted the intricate nature of the patient’s medical profile, emphasizing the importance of a holistic approach in managing functionality in Möbius syndrome. In addition to the characteristic facial paralysis, limited eye movement, developmental delay, and congenital hypotonia indicative of Möbius syndrome, the patient’s medical history also included finger amputations, Bell’s palsy episodes, and bilateral talipes equinovarus, further contributing to the complexity of her case. The culmination of these signs and symptoms led to a comprehensive diagnosis encompassing both Möbius syndrome and its associated conditions, highlighting the intricate nature of the patient’s medical profile that necessitates the integrated expertise of PM&R specialists for effective symptom management.

Discussion

This case report presents a 4-year-old female with Möbius syndrome accompanied by various associated symptoms and conditions. The complexity of this case highlights the importance of a comprehensive approach, particularly in the field of pediatric PM&R. Möbius syndrome, a rare neurological disorder, is characterized primarily by facial paralysis and limited eye movement, with potential additional cranial nerve palsies and musculoskeletal anomalies [1].

Our patient’s clinical presentation closely aligns with the classical features of Möbius syndrome, reflecting the intricate neural and musculoskeletal disruptions inherent to this condition. The diagnosis of Möbius syndrome remains clinical, though recent studies hint at potential genetic factors [2]. This case contributes to the growing body of literature on Möbius syndrome by providing another example of this rare condition with its distinct clinical manifestations [3,4,5,6,7,8,9].

The etiology of Möbius syndrome remains uncertain, with ongoing debates regarding its genetic or environmental origins. Various hypotheses, including genetic predisposition, fetal toxic exposure, and vascular disturbances during fetal development, have been proposed [15]. Our patient exhibited the typical findings associated with Möbius syndrome, further highlighting the complexity of this disorder.

In prior research, multidisciplinary approaches with personalized rehabilitative measure were shown to improve both physical and psychological deficits among patients [11, 16]. In this case, tailored interventions, including sensory integration, targeted exercises, and caregiver education, exemplify the family-centered and goal-oriented nature of pediatric PM&R. These interventions not only address immediate challenges but also extend to long-term management, exemplifying the significance of individualized care for individuals with complex conditions like Möbius syndrome.

The patient’s comprehensive care encompasses a tailored array of therapeutic interventions spanning both physical and occupational therapy. Physical therapy (e.g., focusing on improving mobility, strength, and functional abilities through exercises and interventions targeting musculoskeletal and neuromuscular conditions) strategies include sensory integration, trunk rotation, and cervical spine training, all designed to address her unique challenges—enhancing sensory processing, promoting core stability, and addressing head shape symmetry concerns. Similarly, occupational therapy, which focuses on enhancing independence in daily activities by addressing physical, cognitive, and psychosocial factors, often through adaptive strategies and environmental modifications, is assisting her with functional abilities through short-term goals like improving rolling and providing a passive range of motion exercises. Furthermore, caregiver education equips her support system with essential strategies for home-based assistance. Furthermore, speech therapy interventions, although not administered during the documented period, would play a pivotal role in addressing communication, swallowing, and related disorders, utilizing various techniques and interventions to improve speech, language, voice, and swallowing function. This integrative approach embodies the ethos of PM&R, delivering holistic care to enhance her well-being and functional independence.

In addition to medical and therapeutic interventions, the holistic care approach for patients with Mobius syndrome involves a multidisciplinary team comprising various professionals beyond the realms of medicine and rehabilitation. Social workers play a pivotal role in addressing psychosocial needs, facilitating access to resources, and advocating for the patient and family. Neuropsychologists contribute expertise in assessing cognitive and emotional functioning, guiding tailored interventions to optimize learning potential and overall well-being. Case managers ensure seamless coordination of care, monitoring treatment progress and addressing logistical challenges. Educators collaborate with the healthcare team to support educational development and promote social inclusion. Integrating these team members into the multidisciplinary approach enables comprehensive care addressing diverse needs, ultimately enhancing health outcomes and quality of life for patients and their families.

As the patient’s journey extends into long-term management, several challenges and opportunities emerge, including the need for additional assessments that were not included in this case. Recommended assessments such as a video swallow study, cognitive evaluations, and functional vision assessment could provide valuable insights into the patient’s condition and guide tailored interventions. Moreover, the feasibility of transitioning to home-based therapy holds promise, aligning with the continuity of care and fostering familial involvement in her rehabilitation. Simultaneously, the prospect of school-based therapy presents potential benefits, offering structured interventions within an educational framework. This trajectory emphasizes the significance of multidisciplinary collaboration, where the convergence of medical specialists, therapists, and caregivers becomes pivotal in yielding positive outcomes. Cooperative synergy ensures holistic interventions that address diverse aspects of the patient’s well-being. As the patient’s journey continues, the importance of ongoing interdisciplinary support remains evident, sustaining the comprehensive care that has been integral to her progress thus far.

This case report has certain limitations. Firstly, the absence of comprehensive data pertaining to the patient’s development and medical history from infancy to the age of 4 years old poses a limitation. The patient’s prior medical records were unavailable due to her being abroad during that period, which limits our ability to provide a complete natural history of her condition. Additionally, the assessment and evaluation of the patient’s progress primarily relied on clinical observations and subjective measures, as no standardized objective scales, such as the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY), were employed for a more structured and quantitative evaluation. The utilization of such objective scales could have provided a more comprehensive and quantifiable assessment of the patient's functional status and progress. Finally, another noteworthy limitation is the absence of any media or images of the deformities noted for this patient. Future research should prioritize genetic exploration to identify causative factors and delve into the long-term outcomes of affected individuals. Developing objective assessment tools, exploring multidisciplinary approaches, and investigating the effectiveness of early interventions are essential. Family-centered outcomes, global prevalence studies, advanced imaging techniques, and psychosocial assessments can provide valuable insights. Additionally, exploring emerging therapies holds promise for enhancing motor function and quality of life in Möbius syndrome patients.

In summary, this case report not only illustrates the challenges encountered by a patient with Möbius syndrome but also highlights the efficacy of pediatric PM&R approaches in addressing its multifaceted challenges. The integration of tailored interventions and personalized collaboration presented here holds relevance not only for similar cases but also for the wider medical landscape. Moreover, the lessons gleaned from this case can serve as a compass for future clinical practices and research endeavors. As the medical community seeks to refine treatment modalities, the amalgamation of interdisciplinary insights and family-centered strategies, as exemplified by this report, serves as a cornerstone for advancing care and optimizing outcomes for individuals with Möbius syndrome and analogous conditions.