A Comprehensive Physical Therapy Approach in Late Infantile Form of Metachromatic Leukodystrophy – A Case Study

R. Lakshmanan¹, Dr. V. Rajalaxmi²

¹Student, PGDOSIM, Tamil Nadu Physical Education and Sports University, Chennai

²Professor, Faculty of Physiotherapy, Dr. M.G.R. Educational and Research Institute, Vellapanchavadi, Chennai.

*Corresponding Author E-mail: rajalaxmigopalakrishnan@gmail.com

ABSTRACT:

Backgrond: Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain and inherited as an autosomal recessive trait. Late infantile form of metachromatic leukodystrophy is usually detected in the second year of life, most commonly before the age of 30 months. The initial signs of the late infantile form include irritability, diminished muscle tone, and gait disturbance. Case Presentation: A 2 year male child was identified as cerebral palsy by investigating MRI brain for the first time due to delayed developmental milestones where mild periventricular leukomalacia was noticed. After few days, child suffered from pneumonia and that leads to akinesia, aphasia, spasticity and loss of intellectual function. Buclofen and other supportive drugs prescribed by neurology physician after recovered from pneumonia and encouraged physical therapy. However, it has again diagnosed as late infantile form of metachromatic leukodystrophy at the age of 2 year 3 month by investigating MRI findings for the second time after parents complained the reversal in progression of their child. The management is symptomatic and supportive; clinical support, physiotherapy, nutrition and nursing care. Conclusion: Even though there is no cure, a comprehensive physical therapy of different approaches are neurodevelopmental approach, roods approach where prolonged icing encouraged to reduce spasticity, functional position to improve neck control and spine, swiss ball exercises and sustained stretching are emphasized and that improved static neck control and reduced spasticty from grade 3 to grade 1 (MAS).

KEYWORDS: Metachromatic leukodystrophy, cerebral palsy, akinesia, spasticity.

INTRODUCTION:

Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain and inherited as an autosomal recessive trait.

In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk.

Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported.

Late infantile form of metachromatic leukodystrophy is usually detected in the second year of life, most commonly before the age of 30 months. The initial signs of the late infantile form include irritability, diminished muscle tone, and gait disturbance.

The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40, 000 to 1 in 160, 000 individuals worldwide.^[1] There are an estimated 3, 600 MLD births per year, with 1, 900 alive in the US, 3, 100 in Europe, and 49, 000 alive worldwide with MLD.^[2] MLD is considered a rare disease in the US and other countries.

CASE PRESENTATION:

Child’s parent visited a neurologist that he can’t walk independently at the age of 2 years but he can walk with support and that attained at age of 14 months. When collecting the family history, it came to knew that child was born from a second degree of consanguineous parents and no any cases were reported in their family. Regarding past medical history, the child was known case of meconium aspiration and admitted in Intensive Care Unit for 24 hours. After that, child attained neck control at 4^th month and even though it delayed, child was normal till 2 year exception of walking without support.

Neurologist advised to take MRI brain for the first time and after that, there was a mild periventricular leucomalacia was noticed in the MRI findings. Then, Neurologist suggested to do regular physiotherapy to promote motor activities. Unfortunately, the child suffered from Pneumonia by 3^rd day after consultation. After one month child recovered from pneumonia but he lost full gross motor, fine motor function, loss of speech, attention and intellectual functions.

Paediatric assessment had been evaluated and started regular physical therapy for the child of 1 hour duration per session. At the end of one month, child achieved a head control to 8/11 from 2/11 and spasticity had reduced to grade 1 from grade 3 (Modified Ashworth Scale for spasticity), Improved trunk stability to 4/20 from 0/20 (TCMS). Although the child was attaining good progression further, all the development had reversed and declined at the age of 2 year 2 month. Neuro Physician gave an opinion that to stop taking baclofen pills and continued to physical therapy.

However, the spasticity again developed to grade 3 once stopped taking baclofen. And child was suggested to rule out MRI for the second time to diagnose further. In that imaging, the child was diagnosed as metachromatic leukodystrophy.

INVESTIGATIONS:

MRI at 2yr 0mth –

Mild periventricular leukomalacia was noticed.

EEG –

No asymmetries or clear epileptiform discharges are seen during the recording.

MRI at 2yr 5mth –

Finding are suggestive of Metachromatic leukodystrophy and Pelizaeus-Merzbacher disease.

EEG –

Diffuse polymorphic delta activity.

BioChemical Genetic testing –

Has low activity of Arylsulfatase A

Molecular Genetic Testing –

Arylsulfatase A found to be deficient 0 nmol/hr/mg

Table 1: Physiotherapy specific evaluation of the child.

	Age of 2yr 0mth	Age of 2yr 2mth	Age of 2yr 3mth	Age of 2yr 6 mth
Neck control (CRSH)	2/11	8/11	1/11	7/11
Trunk Stability (TCMS)	0/20	4/20	0/20	5/20
Spasticity (MAS)	Grade 3	Grade 1+	Grade 3	Grade 1
GMFS	Level 5	Between 5 & 4	Level 5	Level 5

Table 2: Developmental Milestone

	Age of 2yr 0mth	Age of 2yr 2mth	Age of 2yr 3mth	Age of 2yr 6 mth
Gross motor	5^th month	5^th month	5^th month	7^th month
Fine motor	4^th month	4^th month	4^th month	4^th month
Cognitive	2^nd month	2^nd month	2^nd month	2^nd month
Social	6^th month	6^th month	6^th month	7^th month
Language	5^th month	5^th month	5^th month	5^th month
Self care	Not Attained

Physical therapy management:

Even though there is no cure, a comprehensive physical therapy of different approaches are neurodevelopmental approach, roods approach where prolonged icing encouraged to reduce spasticity, functional position to improve neck control and spine, swiss ball exercises and sustained stretching are emphasized.

Prolonged icing roods approach (spasticity)

Neuro developmental therapy (neck control)

Swiss ball exercises

Sustained stretching

Figure 1: Neck control at 7^th month Figure 2: swiss ball exercise

Figure 3: Neurodevelopmental therapy

Figure 4: Neurodevelopmental therapy with sustained stretching

DISCUSSION:

The foremost goal is to make the child to achieve greatest possible independence by improving gross motor function. In the present case, various therapeutic techniques are encouraged to reduce spasticity, to enhance stability, balance and motor function.

In 1950, Margaret S. Rood, a physical therapist used sensory stimuli like stroking or brushing at a given speed and for a given duration for activation of a phasic muscle response. In this case, brushing and stroking was given for facilitation of head and neck extensors for gaining head and neck control and prolonged icing to reduce spasticity in the child.⁽³⁾

Neuro-rehabilitation approaches are important for treatment of a child to prevent postural abnormalities, sensory deficits, gross motor dysfunction, and to increase functional capacity.^(4,5)

Sustained stretching plays a little role in reduction of spasticity in terms of improvement in range of motion (ROM) and improvement on Modified Ashworth Scale (MAS)^(6).During the progression of this form there may be some periods of relative stability and other periods of more rapid decline^(7).

CONCLUSION:

Even though there is no cure, a comprehensive physical therapy of different approaches like neurodevelopmental approach, roods approach was given where prolonged icing used to reduce spasticity, functional position to improve neck control and spine, swiss ball exercises and sustained stretching are emphasized to improve static neck control and reduced spasticty.

REFERENCE:

1. Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007

2. MLD 101: Genetics. www.mldfoundation.org. January 6, 2017. Retrieved January 6, 2017.

3. Montgomery PC, Connolly BH. Clinical Applications for Motor Control. 2^nd ed. Slack Incorporated; 2003. p. 9-10.

4. Shamsoddini AR, Hollisaz MT. Effect of sensory integration therapy on gross motor function in children with cerebral palsy. Iran J Child Neurol 2009; 3:43-8

5. Velikovic TD, Perat MV. Basic principles of the neurodevelopmental treatment. Medicina 2005; 42:112-20

6. Shaukat Ali, Muhammad Farrukh Shahzad the effectiveness of Sustained stretching in post Stroke upper limb spasticity. IJRS International journal of rehabilitation sciences.

7. Metachromatic leukodystrophy. Genetics Home Reference. September 2007; http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy. Accessed 5/9/2012

Received on 07.07.2019 Modified on 21.09.2019

Research J. Pharm. and Tech 2020; 13(5):2214-2216.

DOI: 10.5958/0974-360X.2020.00397.2