Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis

Borges, Frederico Mendes; Carneiro, Zumira Aparecida; Lourenço, Charles Marques

doi:10.1590/1806-9282.66.10.1344

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…In early phases, MLD is usually presented with unspecific signs and symptoms including behavioral problems and focal neurological disorders, which make the MLD difficult to diagnose (9). About 75% of cases show the initial symptoms prior to 18 months of age (10). Our patient had a gradually progressive gait problem and motor regression since age of 15th month until he got para-paralyzed at 3 years of age.…”

Section: Discussionmentioning

confidence: 65%

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

Rahafard¹,

Kia²

2022

jcbr

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Background and objectives: Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disease, with an estimated prevalence rate of 1 per 40,000 to 160,000 worldwide. Progressive alteration in motor and cognitive functions is the most common clinical presentation. Late infantile MLD is the most common form of the disease that presents with a progressive decrease in visual acuity, impaired swallowing, muscle rigidity, seizures, and developmental delays. We herein present a rare case of late infantile MLD in a four-and-halfyear-old male patient presenting with gradually-onset paraplegia. Case description: The patient had normal growth and neurodevelopmental pattern until 15 months of age. Afterward, he had a gradually increasing abnormality in gate and finally became paralyzed since the age of three years. The patient was also suffering from dysphagia, bilateral ptosis, and bad temperament. Normal metabolic test, myopathies, and brain MRI findings led to the diagnosis of MLD with gradually-onset paraplegia. Conclusion: Generally, early diagnosis of MLD may increase the chance of recovery from the disease. We suggest considering MLD in patients suffering from behavioral, visual, and motor regressions, especially those with normal metabolic tests.

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Section: Discussionmentioning

confidence: 65%

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

Rahafard¹,

Kia²

2022

jcbr

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“…This study calls for a large-scale study analyzing the best cut off values for injecting in such diseases with short life expectancy. (Borges et al, 2020) The potential effects of BoNT on muscular structures should be explored.…”

Section: Gmfcs Versus Masmentioning

confidence: 99%

Botulinum Toxin Type A: Efficacy in the management of Lower Limb Spasticity in Children with Genetic Disorders

Saleh,

Ashraf,

Halim

et al. 2024

Preprint

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Background: Botulinum toxin type A (BoNT) is a well-established therapeutic modality for the treatment of lower limb spasticity in children with cerebral palsy. Objective: To assess the functional outcomes and tolerability of BoNT injection for the treatment of lower limb spasticity in children with neurometabolic/genetic disorders. Methods: We conducted a retrospective chart review for history, demographic data, comorbidities, neurological examination, and neuroimaging findings for all patients diagnosed with neurometabolic/genetic disorders from December 2020 to December 2022. The outcomes were assessed by recording the Gross Motor Function Classification system (GMFCS) for Cerebral Palsy "Initially and after 6 months' post-treatment", the Modified Ashworth scale (MAS) "initially and at 1,3,6 month post-treatment" and the achieved preset functional goals using the Goal Attainment Scaling (GAS) at 4-6 months post-treatment. Results: A total of 90% of the patients showed improvement in their GAS scores, with 20% achieving the preset goal, 55% achieving a better outcome than anticipated and 15% achieving the best possible outcome. Furthermore, the GMFCS and MAS scores showed a significant statistical improvement after six months post-injection (p=0.02, p=0.03), respectively. None of the patients developed serious adverse effects except one who had mitochondrial cytopathy. Conclusion: BoNT injections were effective and showed a high safety profile in children with neurometabolic/genetic disorders. To our knowledge, this is the first study that specifically targets this patient population, filling a gap in the literature and providing valuable insights into the potential benefits of BoNT injections for this group. However, further large-scale studies are recommended to confirm these findings.

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“…MLD is a neurodegenerative disorder caused by deficiency of arysulfatase A (ARSA) and sphingolipid activator protein B (sap B, saposin B) enzyme, that leads to accumulation of sulfatide within the cells. 1,4,6 Arysulfatase A enzyme breakdown the sulfatide, due to improper function of ARSA and sap B enzyme sulfatide accumulate in the neurons and myelinating cells that causes severe demyelination. 3,6 A few individual with MLD have mutation in prosaposin (PSAP) gene.…”

Section: Causes and Pathophysiologymentioning

confidence: 99%

“…1,4,6 Arysulfatase A enzyme breakdown the sulfatide, due to improper function of ARSA and sap B enzyme sulfatide accumulate in the neurons and myelinating cells that causes severe demyelination. 3,6 A few individual with MLD have mutation in prosaposin (PSAP) gene. 5 This gene assists an enzyme for breaking down various fats one of these smaller proteins is called saposin B this protein works with arysulfatase A to break down sulfatide.…”

Section: Causes and Pathophysiologymentioning

confidence: 99%

An audiological profiling in metachromatic leukodystrophy: a case study

Mahallik¹,

Ansari²,

Sahu³

et al. 2022

Int J Otorhinolaryngol Head Neck Surg

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<p class="abstract">Metachromatic leukodystrophy (MLD) is a lysosomal storage disease, which is characterized by damage of the myelin sheath that covers most of nerve fibers of the central and peripheral nervous systems. The disease occurs due to a deficiency of the lysosomal enzyme arylsulfatase A (ARSA) or its sphingolipid activator protein saposin B (SapB). Audiological test batteries were carried out, i.e.; behavioural observation audiometry (BOA), impedance audiometry, otoacoustic emission (OAE) and brainstem evoked response audiometry (BERA). Result showed there was no changes in behaviour towards the stimulus, has been noticed in BOA, bilateral A type tympanogram with absence of acoustic reflexes in all frequencies on Ipsi and contra-lateral stimulations and no wave Vth was found at 90 dBnHL in both ears even at repeated trials in BERA. Early identification of hearing loss offers children the opportunity to develop significantly improved language skills. Otologist and audiologist need to be taken care and to provide medical treatment as well as amplification device to the patients.</p>

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Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis

Cited by 6 publications

References 17 publications

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

Botulinum Toxin Type A: Efficacy in the management of Lower Limb Spasticity in Children with Genetic Disorders

An audiological profiling in metachromatic leukodystrophy: a case study

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