Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)

Ledesma-Porras Y.; Torres-Salinas C.; Montero-Girón A.; Bustinza-Camarena V.; Riveros-Feril Y.; Córdova-Paucarchuco D. · Anales de la Facultad de Medicina (2024) · DOI: 10.15381/anales.v85i1.26805

Resumen

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a rare and lethal skeletal dysplasia. We present the first case detected in Peru, in a 13-month-old infant with phenotypic characteristics of relative macrocephaly, narrow thorax, micromelic extremities and accordion skin; likewise, a marked delay in psychomotor development in all milestones (Peruvian test), and acanthosis nigricans. The patient had a poor clinical evolution characterized by recurrent seizures, progressive respiratory difficulty, dying from respiratory failure concomitant to pneumonia. This entity requires access to specific exams such as the skeletal dysplasia panel, which is not part of the offering in most hospitals in Peru. Greater attention is required for rare diseases, to provide timely diagnoses and information to those involved.

Instituciones: Universidad Continental; Universidad Nacional del Centro del Perú