Genetic mutations of the gene coding for purine-rich element binding protein A (PURA, 5q31.2) lead to a developmental disorder, named PURA syndrome.

PURA is thought to play a role in the control of DNA replication and transcription, neuron proliferation, dendrite maturation, and mRNA transportation to translation sites during neuronal development. The gene is relevant in brain development and may be involved in the automatic regulation of breathing by the brainstem. PURA defects affect the development of neurons and may also affect the formation of maturation of myelination, leading to developmental problems and seizures, although the exact mechanism is unclear. Early signs of this disorder include hypotonia, hypothermia, swallowing disorders, seizures, central and obstructive sleep apnoea. Later manifestations include neurodevelopmental delay, speech delay or absence, delayed and impaired gross motor development, intellectual disability, and seizure disorder. Challenges for an anaesthesiologist are multifold and the proposed approach is deduced from the above-mentioned clinical problems and from the anaesthetic implications of other phenotypically similar neurodevelopmental disorders. Primary anaesthetic concerns focus on the respiratory, cardiovascular, and neurologic functions of the child as these patients could show an increased sensitivity to sedative medications.