Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.

Mucopolisacaridosis tipo IV como causa de talla baja patológica: reporte de un caso y revisión de la literatura / Mucopolysaccharidosis type IV as a cause of pathological short stature: a case report and literature review

Se presenta un caso clínico de síndrome de Morquio o mucopolisacaridosis tipo IV, en una niña de 5 años que consulta al servicio de endocrinología pediátrica del Hospital Pablo Tabón Uribe, por talla baja y deformidades esqueléticas que iniciaron al año de edad. Inicialmente admitida con una impresión diagnóstica de raquitismo, pero al evaluar el caso en conjunto con el grupo de ortopedia infantil se confirma el diagnóstico por clínica, hallazgos radiológicos característicos y pruebas específicas para mucopolisacaridosis. Se revisan los principales aspectos clínicos y radiológicos de la enfermedad y el manejo actual.

We report a case of Morquio syndrome, or mucopolysaccharidosis type IV, in a girl of 5 years attending the pediatric endocrinology service at the Pablo Tobón Uribe Hospital, because of short stature and skeletal deformities that began in the first year of life. Initially admitted with a working diagnosis of raquitism, but reassessment of the case by the children's orthopedic group confirmed the diagnosis by clinical, specific serological tests and characteristical radiological findings specific for mucopolysaccharidosis. We review the clinical and radiological characteristics of the disease and current treatment options.