Evaluating the brainstem in children with breath-holding spells.

Objective: Breath-holding spells (BHSs) are a non-epileptic paroxysmal phenomenon characterized by frequent apnea episodes, loss of consciousness, and changes in skin tone and postural tone triggered by negative stimuli of childhood. The pathophysiology of the disease remains unclear; autonomic dysregulation caused by delayed myelination is believed to play a role. In this study, we aimed to evaluate the brainstems of children with BHS using diffusion tensor imaging (DTI) and investigate the etiology of this phenomenon.

Methods: The study group consisted of 16 children with a history of severe breath-holding episodes (accompanied by loss of consciousness and tonic contraction due to prolonged anoxic response) and 18 age-, gender-, and handedness-matched controls. All children underwent systemic, neurologic, and cardiologic evaluation, including complete blood count, blood biochemistry, serum iron and ferritin level, serum vitamin B12 level, electrocardiogram, and electroencephalograms. Magnetic resonance imaging was performed using a 1.5-Tesla Siemens Aera scanner (Siemens, Germany).

Results: Evaluation of brainstem (midbrain, pons, and medulla oblongata) volumes revealed no statistically significant differences between the BHS patient and control groups. In a voxel-wise analysis of DTI data, the BHS patient group had significantly lower fractional anisotropy (FA) values than the control group in the bilateral midbrain and medulla, right corticospinal tract, bilateral corpus callosum body and splenium, and left corpus callosum genu. In contrast, there were no significant differences in FA values in the pons, cerebellum, left corticospinal tract, and right corpus callosum genu.

Conclusion: Based on our findings, we think that patients with BHS should be treated with an approach similar to other neurodevelopmental diseases and that this study may help elucidate the pathophysiology and establish the groundwork for future studies on its treatment.