A 17-month-old boy was referred to neurology after being adopted by Spanish parents. He was born in Romania at 32 weeks of postmenstrual age (PMA), with limited prenatal care and a history of placenta previa. His birth weight was 1480 g, and he spent 3 months in the neonatal intensive care unit. Upon examination, he demonstrated left-hand preference, truncal hypotonia, generalized hyperreflexia, bilateral leg spasticity, and bilateral upgoing toes with plantar responses. He walked on his tiptoes with assistance.

Brain MRI showed posterior periventricular and deep white matter signal abnormality and volume loss. There was associated cortical thinning and angular ex vacuo ventricular enlargement ( Fig. 15.1 ).

Periventricular leukomalacia. Brain MRI, axial T1 (A), axial T2 (B), coronal FLAIR (C), sagittal T1 (D) show periventricular white matter signal and volume loss ( arrows ), along with thinning of the corpus callosum ( arrowhead ) and basal ganglia atrophy. FLAIR , Fluid-attenuated inversion recovery.

About 50% of patients with cerebral palsy (CP) have clearly identified perinatal risk factors. Symptoms can be subtle, with diagnosis delayed during the first 2 years of life. However, nonspecific abnormalities of motor development can improve and resolve with age.

Several genetic/metabolic disorders can mimic CP, including hereditary spastic paraplegia and Pelizaeus-Merzbacher disease. Neuroimaging can help determine the underlying etiology.