A Rare Peroxisomal Biogenesis Disorder: Rhizomelic Chondrodysplasia Punctata Type 1 – A Case

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a rare autosomal recessive peroxisomal biogenesis disorder. It is clinically characterized by dysmorphic facial features, proximal limb shortening (rhizomelia), epiphyseal calcifications, congenital cataracts, and global developmental delay. In this report, we present a case of RCDP1 with classical clinical and radiological findings, in whom a compound heterozygous variant was detected in the PEX7 gene. A male infant born at 34 weeks of gestation was admitted to the neonatal intensive care unit due to respiratory distress starting in the delivery room. He was referred to our center on postnatal day 43 due to dysmorphic facial features, rhizomelic shortening of the limbs, congenital cataracts, and neonatal-onset seizures. Based on clinical findings, radiological, biochemical, and molecular evaluations were performed, and a diagnosis of RCDP1 was made. The patient required prolonged mechanical ventilation and passed away at 29 months of age due to respiratory failure. Although rare, RCDP1 can be diagnosed in the early period due to its characteristic features. Therefore, it is important to consider the diagnosis in patients with suggestive clinical findings and to ensure multidisciplinary follow-up.