Subclinical hypothyroidism and Pelizaeus-Merzbacher Disease in same-sex twins: Case report

Abstract

Thyroid hormones are essential for differentiation and function of oligodendrocytes, contributing to the process of myelination, development and maturation of the nervous system. Prematurity and low birth weight are conditions commonly present in multiple pregnancies and the immaturity of the hypothalamic-pituitary-thyroid axis can result in changes in thyroid hormones. Peliazeus-Merzbacher's disease (PMD) is a rare form of hypomyelinating leukodystrophy with X-linked inheritance. The aim of this report is to present an uncommon association of PMD and subclinical hypothyroidism in same-sex twins and discusses relevant aspects of the diagnostic and therapeutic approach.

Keywords

• Congenital hypothyroidism
• Leukodystrophy
• Pelizaeus-merzbacher
• Rare disease