Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Area of Science:

• Neuroscience
• Genetics
• Endocrinology

Background:

• Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal disorder resulting from arylsulfatase A deficiency and sulfatide accumulation in the nervous system.
• Central precocious puberty (CPP) is characterized by early onset of puberty due to premature activation of the hypothalamic-pituitary-gonadal axis.

Observation:

• A female child with MLD presented with gait disturbance and language regression.
• She later developed bilateral thelarche at 4 years and 7 months.
• Brain MRI revealed leukoencephalopathy and pituitary changes; hormonal tests confirmed CPP.

Findings:

• The patient was diagnosed with MLD based on reduced arylsulfatase A activity and genetic mutations.
• She subsequently developed central precocious puberty (CPP).
• This association between MLD and CPP has not been previously reported.

Implications:

• This case suggests that CPP can occur in MLD, a previously undescribed association.
• Sulfatide accumulation in MLD may disrupt the hypothalamic-pituitary axis, triggering CPP.
• Further research is needed to understand the neuroendocrine implications of MLD.