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Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India
P S Bindu1, A Mahadevan, A B Taly
1Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore 560029, India.
Background:
There is a paucity of literature from India on metachromatic leucodystrophy (MLD), a rare metabolic disorder of childhood resulting from aryl sulfatase A (ASA) deficiency.Patients/
Methods:
Case records of histopathologically verified cases of MLD, evaluated over a period of 12 years at the National Institute of Mental Health and Neurosciences, Bangalore, India, were reviewed.
Results:
The late infantile group (36) manifested with regression of milestones (all), delayed mile stones (14), gait abnormalities (14), and seizures (11). Despite spasticity (29), there was hypo/areflexia in 25 patients. Optic atrophy (six) was rare. Consanguinity was noted in 25 children and four had a history of similar illness in siblings. Behavioural problems dominated in the juvenile group (four), but associated cognitive decline and hyporeflexia provided a clue to the diagnosis. Low serum ASA (seven of 20), raised cerebrospinal fluid protein (five of 12), and urinary metachromatic granules (two of 32) were infrequent. Electrophysiological evidence of severe demyelinating and length dependent sensory motor neuropathy was observed in all, even in the presence of hyper-reflexia. In addition to metachromatic dysmyelinating neuropathy in all patients, sural nerve biopsy in 20 patients revealed orthochromatic deposits within perivascular macrophages, particularly among those patients with normal ASA values (11 of 14), suggesting the accumulation of other glycosphingolipids.
Conclusions:
This study produced some noteworthy observations: the high degree of consanguinity associated with MLD in India, the existence of MLD with normal serum concentrations of ASA, the deposition of orthochromatic lipids, and electrophysiological evidence of a partial conduction block.
Insights
Metachromatic leucodystrophy (MLD) in India shows high consanguinity and can occur with normal aryl sulfatase A (ASA) levels. Electrophysiology reveals demyelination and conduction blocks, with unusual lipid deposits in some cases.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Metachromatic leucodystrophy (MLD) is a rare childhood metabolic disorder caused by aryl sulfatase A (ASA) deficiency.
- Literature on MLD in India is scarce, highlighting the need for regional data.
Purpose of the Study:
- To investigate the clinical, biochemical, and pathological features of MLD in Indian patients.
- To identify unique characteristics of MLD in the Indian population.
Main Methods:
- Retrospective review of histopathologically confirmed MLD cases over 12 years.
- Analysis of clinical presentations, neurological examinations, biochemical tests, and nerve biopsy findings.
Main Results:
- Late infantile MLD presented with developmental regression, gait issues, and seizures; juvenile MLD with behavioral changes and cognitive decline.
- Consanguinity was frequent (25%), and MLD was observed even with normal serum ASA levels.
- Electrophysiology confirmed severe demyelinating neuropathy in all patients; nerve biopsies showed orthochromatic deposits, suggesting other glycosphingolipid accumulation.
Conclusions:
- High consanguinity rates in Indian MLD cases are notable.
- MLD can present with normal serum ASA levels and unique lipid depositions.
- Electrophysiological findings indicate partial conduction blocks in MLD neuropathy.
