Rhizomelic Chondrodysplasia Punctata in a Neonate: A Diagnostic Challenge in Resource-Limited Settings

Sushma¹, Nandipatti², Mary Chandrika³, Aljin V ⁴*

This case determines the importance of recognizing clinical and radiological features of RCDP for early diagnosis in limited-resource settings.

Abstract

Background: Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive peroxisomal disorder characterized by dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts, multiple joint contractures, and specific radiological abnormalities, such as punctate epiphyseal calcification. The condition is often caused by mutations in the PEX7 gene and presents significant diagnostic challenges due to its complex clinical manifestations and overlaps with other peroxisomal disorders. Method: This case report describes a male neonate born at term with features suggestive of RCDP. Clinical evaluation, ophthalmological examination, and skeletal surveys were performed to assess the presence of characteristic findings associated with the disorder. Due to financial constraints, advanced biochemical profiling and genetic assays were not conducted. Results: The neonate presented with proximal limb shortening, dysmorphic facial features, bilateral megalocornea, near-mature cataracts, and multiple joint contractures. Radiological investigations showed bilateral symmetrical shortening of the humerus and femur, stippled calcification, diaphyseal thickening, metaphyseal splaying and fraying, and paravertebral calcific foci. These findings were consistent with the diagnosis of RCDP. Conclusion: This case underscores the importance of recognizing the clinical and radiological hallmarks of RCDP for early diagnosis and management, especially in resource-limited settings where advanced genetic testing may not be available. Genetic counselling is crucial for affected families, considering the autosomal recessive inheritance pattern and recurrence risk in future pregnancies.

Keywords: Rhizomelic Chondrodysplasia Punctata, Peroxisomal Disorders, Skeletal Dysplasia, PEX7 Gene Mutation, Neonatal Diagnosis.

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