Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara / Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology

La acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se caracteriza por la asociación de resistencia hormonal múltiple con anomalías esqueléticas. Su incidencia está infradiagnosticada debido a que comparte rasgos clínicos y de laboratorio con otras entidades como el seudohipoparatiroidismo. Presentamos el caso de una niña de 8 años, con acrodisostosis tipo 1, confirmada mediante estudio genético. Además del fenotipo característico descrito, la talla baja y la resistencia hormonal, la paciente presentó una afectación progresiva de la función pulmonar: un patrón pulmonar obstructivo no reversible. En la literatura revisada, no se han encontrado otros casos que describan esta asociación entre acrodisostosis y afectación respiratoria.

Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities. This syndrome is under-diagnosed as it shares analytical and clinical characteristics with other entities, such as pseudohypoparathyroidism. We report the case of an eight-year-old girl with genetically confirmed type 1 acrodysostosis. In addition to the characteristic phenotype described, the short stature and the hormonal resistance, the patient suffered a progressive lung function deterioration: an irreversible pulmonary obstructive pattern. We have not found in previous literature cases reporting an association between acrodysostosis and lung function impairement.

Diagnosis and treatment of acrodysostosis / 国际儿科学杂志

Acrodysostosis is a rare autosomal dominant disorder, which is caused by abnormalities in the GPCR-Gsα-cAMP-PKA signaling pathway due to mutations in the PRKAR1A gene or PDE4D gene.Acrodysostosis is mainly characterized by skeletal development disorders with or without hormone resistance, and it should be differentiated from pseudohypoparathyroidism, pseudopseudohypoparathyroidism and other related diseases.Diagnosis mainly depends on clinical diagnosis, and molecular genetic diagnosis is the gold standard.The mainstay of therapy is symptomatic treatment.The epidemiology of acrodysostosis has not been reported so far.This article reviewes recent publication of acrodysostosis at home and abroad.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.

A Case of Acrodysostosis

Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide. Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and advanced bone age. Most patients do relatively well except for the problems of mental deficiency and arthritic complaints. Progressive restriction of movement of the hands, elbows, and spine may occur. Recently, we experienced a case of acrodysostosis in and 11-year-old boy who presented with short stature, short hands and feet, nasal hypoplasia, mental retardation, and typical radiographic findings including severe shortening of metacarpals, metatarsals and phalanges, cone-shaped epiphyses of the hands and feet.