Clinical Guidance

An overview study of 66 affected individuals revealed preliminary evidence in support of a genotype-phenotype correlation . A recent study on antenatal and early-infantile presentation of LBSL substantiates genotype-phenotype correlation. Individuals with this presentation lack the common "leaky" splice site variants and instead have more severe loss-of-function variants .

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Diagnostic Criteria

Suggestive Findings

Diagnosis of leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) should be suspected in individuals with characteristic abnormalities observed on brain and spinal cord MRI . However, atypical presentations with antenatal or early-infantile onset characterized by either profound cerebral atrophy or a leukoencephalopathy in the absence of typical involvement of tracts in the brain stem and spinal cord have been described; see *NOTE: (1) .

MRI Criteria for LBSL

See , , , , and . Major criteria. EITHER:

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Differential Diagnosis

Classic Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation The classic clinical picture of leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) consists of slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, involving the legs more than the arms. The tendon reflexes are retained. Based on these findings alone, many disorders can be considered ; however, characteristic brain and spinal cord MRI findings distinguish LBSL from other disorders with overlapping clinical features. Ataxia. MRI findings distinguish LBSL from other hereditary ataxias .

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Clinical Guidance

Case reports have described neurologic deterioration following head trauma (as has been reported for several other leukodystrophies including vanishing white matter and adrenoleukodystrophy). The exact risk is not clear. No specific guidelines exist for contact sports or other activities. Affected individuals should be counseled on the above-mentioned observations and can then make an individual decision based on personal preference .

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation

Source: GeneReviews — "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation"