Leukodystrophies and Inherited Metabolic Conditions

Abstract

Leukodystrophies encompass a large group of rare entities which often have an ill-defined onset and vary widely in terms of clinical presentations. Though individual disorders are rare, the group as a whole is not uncommon. Early diagnosis can be crucial in a few selected conditions, where early intervention may help prevent further neurometabolic insult to the developing brain. Clinical neuroradiology plays an important part in recognizing that a leukodystrophy is at play and subsequently analyzing the imaging and clinical clues to help narrow the differential, thence allowing to tailor subsequent laboratory or genetic investigations. Observing specific imaging patterns has led to the discovery of new diseases and genetic mutations. Biochemical tests and extensive genetic testing, though expensive and time consuming, may or may not yield the answers that the families are desperate for. A large proportion of children with inborn errors of metabolism never receive a final diagnosis. Even in cases where the diagnosis is made, the outlook may be poor, as often irreversible brain injury has set in and treatment options are typically limited.

This chapter provides a systematic approach to the recognition and work-up of inherited leukodystrophies and leukoencephalopathies. We discuss the radiological techniques and outline a systematic step-wise clinical and radiological approach to assessing childhood leukodystrophies and leukoencephalopathies. Finally, we discuss the radiological mimics.

This publication is endorsed by: European Society of Neuroradiology (www.esnr.org).