S Parab, M Bose, A Mahajan, P Kumar

Abstract

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder marked by hypopigmented skin, silver hair, and impairments in both immunological and neurological functions, which hinder functional independence and daily activities. Present case report investigates the impact of a four-week, personalised physiotherapy program focused on core activation, balance training, and functional strengthening. The evaluation utilised outcome measures such as the strength assessment, Gross Motor Function Measure, Trunk Control Measurement Scale, Paediatric Berg Balance Scale, and Functional Independence Measure for Children. Results following the intervention revealed notable enhancements in muscle strength, trunk control, balance, and functional independence. These findings emphasize the potential role of targeted physiotherapy in the holistic management of GS2, advocating for its importance in improving neuromotor performance and achieving optimal functional outcomes for affected individuals.

Introduction

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterised by hypopigmentation of skin and hair. Three subtypes namely GS1, GS2, and GS3 are caused by mutations of three genes MYO5A, RAB27A and MLPH respectively.¹ Griscelli syndrome type 2 (GS2) results in immune system abnormalities and neurological deficits associated with hemophagocytic lymphohistiocytosis (HLH).² Neurological impairments include hemiparesis, ataxia, intracranial hypertension, seizures, and psychomotor retardation,^3,4 which impact the function and quality of life in these children.

Case Presentation

A six-year-old girl with typical silvery grey hair, eyelashes, and eyebrows.⁵ She had difficulty in performing independent activities of daily living (ADLs), majorly effecting sit to stand from a chair or floor sitting. She achieved typical milestones until age 2 years but later suffered from a week-long high-grade fever and weakness in bilateral lower limbs. An MRI scan of the brain revealed cerebellar involvement, moderate bilateral atrophy, hyperkeratosis, lymphocyte infiltration, and cerebral oedema. Genetic testing confirmed the diagnosis of GS2.

The child was diagnosed with HLH and received immunosuppressive therapy consisting of dexamethasone and etoposide according to the HLH-2004 protocol, which remains the standard therapeutic approach for HLH management.^6,7 Following initial treatment, she achieved clinical remission of the haemophagocytic episode with normalisation of inflammatory markers and resolution of fever.⁷ Allogeneic haematopoietic stem cell transplantation (HSCT), which remains the sole curative treatment for GS2⁸ had not yet been performed for the child. The child had been medically stable for 3 months with no active HLH manifestations and was referred for physiotherapy assessment and treatment. The authors here are the first to highlight the benefits gained by this GS2 child through physiotherapeutic approaches, which have not reported to date.

Firstly, muscle strength, trunk control, motor function and balance were evaluated and recorded using manual muscle testing, Trunk Control Measurement Scale (TCMS), Gross Motor Function Measure (GMFM-88), and Paediatric Berg Balance Scale (PBBS) respectively. These tests revealed weakness in muscle strength, poor motor control in kneeling and standing, balance impairment, and high risk of falls. Functional Independence Measure for Children (WeeFIM) scores indicated use of moderate assistance for self-care and mobility. The child's current performance was below her capacity in domains of general tasks, mobility, and self-care (Table 1).

Integrating the evaluation findings and expectations of the parents, specific, achievable, and realistic goals were set for physiotherapy. A 4-week (12 sessions; 3 sessions per week) individually tailored exercise programme was systematically designed to target muscle strengthening, motor function, trunk control, and balance. A task-oriented approach was employed to facilitate activation of the gluteal, hamstring, and quadriceps muscle groups through functional activities and play-based therapy, thereby enhancing participation and functional independence.⁹ Additionally, Progressive Resistance Training (PRT) was integrated with functional task practice to further augment motor function (Table 2).

The study demonstrated improvements in overall functional performance, as evidenced by enhanced post-test scores on the TCMS, GMFM-88 dimensions, PBBS, and WeeFIM (Table 1).

Discussion

The improvements observed in our patient represent a combination of physiotherapeutic intervention and the overall medical management of GS2 and HLH. It is important to acknowledge that the medical treatment, including immunosuppressive therapy and the achievement of HLH remission, contributed to the overall clinical stability and improvement in the patient's general state. The HLH-2004 etoposide-dexamethasone backbone has demonstrated efficacy in achieving complete or partial remission in the majority of patients, with 5-year survival rates of approximately 61%.⁶ These medical interventions may represent potential confounders when attributing functional gains specifically to physiotherapy. However, the targeted nature of the improvements in specific muscle groups (gluteal, hamstring, and quadriceps), trunk control, and balance parameters that were directly addressed in the physiotherapy programme suggests a meaningful contribution of the structured rehabilitation approach. Furthermore, the assessments were conducted during a medically stable phase with no active HLH episode, allowing us to more specifically evaluate the effects of physiotherapy on motor function and functional independence. Early HSCT before the development of the accelerated phase is associated with better outcomes.6 However, our patient did not receive it and was stable to be subject to optimal window for rehabilitation. Nevertheless, we acknowledge the multifactorial nature of recovery in such complex cases and recognise that optimal outcomes likely result from comprehensive, multidisciplinary management including both medical and rehabilitation interventions.

The neurological and motor impairments observed in our patient are not unique to GS2-associated HLH but are common sequelae of HLH across various aetiologies. Children with HLH, regardless of underlying cause, frequently experience neurological complications including motor deficits, ataxia, muscle weakness, and functional limitations due to cerebellar involvement, cerebral oedema, or prolonged critical illness.^3,10 Therefore, the role of physiotherapy may extend beyond GS2 patients to benefit the broader population of children with HLH-related neurological sequelae. Structured physiotherapy assessment and goal-orientated rehabilitation programmes addressing muscle strength, motor control, balance, and functional independence should be considered as part of the comprehensive management of all children recovering from HLH with motor impairments. Future research examining physiotherapy outcomes in the wider HLH population would be valuable to establish evidence-based rehabilitation protocols for these patients.

Conclusion

Referral of GS2 children with problems of motor control and function is important to achieve their holistic healthcare needs. The authors recommend targeted therapy sessions to improve muscle strength, motor functions, trunk control, motor function, balance, and functional independence in GS2. Playful activities play an important role in motivating and engaging the child during therapy sessions.

Declaration of Interest

The authors declare no conflict of interest.

Acknowledgement

The authors are thankful to the parents of the child for providing informed consent to report the evaluation findings and clinical improvement of the child during and following the treatment sessions.

References

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