Chiari I Malformation and Idiopathic Growth Hormone Deficiency Case Series

Chiari I malformation (CIM) and idiopathic growth hormone deficiency (GHD) are distinct, yet occasionally coexisting conditions in pediatric patients. The underlying pathophysiological link between the two entities remains controversial. In this case series, we present five pediatric patients with concurrent CIM and idiopathic GHD, detailing their clinical presentations, diagnostic workups, and responses to recombinant human growth hormone (rhGH) therapy. Notably, three of the cases were asymptomatic for CIM, with the malformation incidentally detected during evaluations for short stature. All patients demonstrated a positive growth response to rhGH treatment, with no evidence of CIM progression over the monitoring period. Our literature review highlights several proposed mechanisms linking CIM and GHD, including the potential effects of breech delivery, congenital midline developmental anomalies, and an underdeveloped posterior cranial fossa. Despite concerns in some reports about the possible exacerbation of CIM symptoms with rhGH therapy, such as persistent headaches, cerebellar ataxia, or spinal cord-related symptoms, our findings suggest that, when administered under careful multidisciplinary supervision, rhGH can effectively promote growth without adversely affecting CIM. To conclude, we highlight the importance of close collaboration between endocrinologists and neurologists in managing patients with these coexisting conditions.