A Unique Pediatric Case of COACH Syndrome with Hypertension and Scoliosis: Diagnostic Challenges and Clinical Insights

COACH Syndrome; Hypertension and Scoliosis

Abstract

COACH syndrome is a rare autosomal recessive ciliopathy characterized by cerebellar vermis hypoplasia, ocular coloboma, hepatic fibrosis, and developmental delay, with diagnosis often delayed due to its variable and nonspecific presentation. We report the case of an 8-year-old male who presented with developmental delay, ataxic gait, nystagmus, hypertension, and scoliosis—an unusual combination not commonly associated with the syndrome. Clinical evaluation revealed hepatosplenomegaly, elevated liver enzymes, iron deficiency anemia, secondary hyperparathyroidism, and mild hypoxemia. Abdominal imaging confirmed hepatic fibrosis and the presence of an accessory spleen. The patient was diagnosed with COACH syndrome in the context of chronic kidney disease, and despite multidisciplinary treatment, his condition continued to deteriorate. This case expands the known phenotypic spectrum of COACH syndrome by highlighting hypertension and scoliosis as potential but underrecognized features. It underscores the importance of considering rare genetic disorders in pediatric patients presenting with neurological and hepatic symptoms, even when additional findings deviate from the classical triad. Early diagnosis through imaging and genetic evaluation, followed by coordinated care, is essential for improving prognosis and quality of life in patients with complex multisystem syndromes like COACH.