INTRODUCTION

We report 2 young brothers (ages 5 and 7 years) who had practically the same clinical history. Following investigations, these brothers were confirmed to have a rare genetic disorder called Pelizaeus-Merzbacher disease (PMD). A review of the local literature failed to reveal any previously reported cases of this disorder, thus we aim to report these brothers for awareness and recognition.

CLINICAL PRESENTATION

Both presented with roving eye movements at an early age, together with hypotonia, and subsequently were delayed in all aspects of development.

DIAGNOSTIC WORK-UP

Both boys underwent cranial magnetic resonance imaging (MRI) studies showing diffuse hypomyelination. Visual evoked potentials (VEP), brainstem auditory evoked responses (BAER), and somatosensory evoked potentials (SSEP), were abnormal, all showing delayed latencies. Nerve conduction velocity (NCV) studies were normal. Molecular gene analysis of the patients' blood and that of their mother confirmed the diagnosis of Pelizaeus-Merzbacher disease on the brothers and the carrier state of the mother.

TREATMENT AND FOLLOW-UP

Although there is no specific treatment, supportive treatment and genetic counseling may be offered. Both boys are regularly being followed-up and improvement in their neurodevelopmental status as well as progression of the disease has been slow.

Human ; Pelizaeus-merzbacher Disease