Conrado Medici

Locked-In Syndrome in Three Children With Guillain-Barré Syndrome

Locked-in syndrome is a rare disorder in childhood. It resembles brain death, but patients are fully conscious, and incapable of communicating because of the complete paralysis of voluntary muscles. Although it can be caused by Guillain-Barré syndrome, it is rarely reported in pediatrics. We describe three pediatric cases of locked-in syndrome in patients with Guillain-Barré syndrome presenting acute tetraplegia, areflexia, cranial nerve involvement, and albuminocytologic dissociation in the cerebrospinal fluid. Electrophysiologic studies indicated acute motor axonal polyradiculoneuropathy in one patient, and acute motor sensory axonal polyradiculoneuropathy in the other two. Most Guillain-Barré syndrome patients with locked-in syndrome demonstrate nerve inexcitability in neurophysiologic studies, poor clinical outcomes, and increased risk of sequelae.

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings

Phenylketonuria is a treatable inborn error of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine. We report a 10-month-old boy with psychomotor regression and infantile spasms. He was diagnosed with classic phenylketonuria and West syndrome. Treatment was initiated with phenylalanine-restricted diet and vigabatrin. After 5 months of treatment, he persists with developmental delay, severe hypotonia, swallowing disorder, and drug-resistant epilepsy. Brain magnetic resonance imaging showed the typical abnormalities in supratentorial white matter and exceptional infratentorial and basal ganglia compromise. Severity of white matter abnormalities and neurologic symptoms correlates with blood levels of phenylalanine. Infratentorial changes occur in severe cases. Other mechanisms could take part in cases like this with atypical neuroimaging abnormalities of the basal ganglia.