Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.

Steel syndrome was initially described by H. H. Steel in 1993 in Puerto Rico, at which time he described the clinical findings required for diagnosis. The responsible gene, COL27A1, was identified in 2015 (Gonzaga-Jauregui et al., European Journal of Human Genetics, 2015;23:342-346). Eleven patients have previously been described with Steel syndrome and homozygous COL27A1 mutations, with eight having an apparent founder mutation, p.Gly697Arg. We describe three more patients identified at Einstein Medical Center Philadelphia and St. Christopher's Hospital for Children (Philadelphia, PA) diagnosed with Steel syndrome. All three are of Puerto Rican ancestry with the previously described founder mutation and had either hip dislocations or hip dysplasia. Radial head dislocation was only identified in one patient while short stature and scoliosis were noted in two of these patients. There are now 51 patients in the literature with Steel syndrome, including the 3 patients in this article, and 14 patients with a genetically confirmed Steel syndrome diagnosis.

Neuropatía por atrapamiento del nervio interóseo posterior en un adulto con displasia ósea / Entrapment neuropathy of the posterior interosseous nerve in an adult with bone displasia

Resumen: La neuropatía por atrapamiento del nervio Interóseo Posterior, rama motora del nervio radial, puede ser causada por la compresión estructural, mecánica, o dinámica en lugares específicos que conducen a la lesión del nervio. La proximidad del nervio interóseo posterior a la cabeza del radio lo hace susceptible a lesiones por eventos traumáticos agudos o crónicos, como manifestación tardía secundaria a luxación de la cabeza del radio. Esta última es una entidad poco frecuente en el adulto y siempre plantea diversos diagnósticos diferenciales referidos a su origen y eventual asociación con Acondroplasia. La patología compresiva del nervio Interóseo Posterior puede generar dos síndromes diferentes: Síndrome del nervio interóseo posterior o Síndrome del túnel radial. En este artículo se describe el caso de un adulto con una neuropatía por atrapamiento del nervio Interóseo Posterior, con subluxación unilateral de cabeza del radio y antecedentes personales de Displasia Ósea. A través del análisis de los estudios de electrodiagnóstico e imagenología, se plantean los diagnósticos diferenciales, etiológicos y diagnóstico positivo de Síndrome del nervio interóseo posterior. Así como su posibilidad de tratamiento conservador y quirúrgico.

Abstract: Entrapment neuropathy of the posterior interosseous nerve, motor branch of the radial nerve can be caused by structural, mechanical, or dynamic compression in specific locations that lead to nerve injury. The proximity of the posterior interosseous nerve to the radial head makes it susceptible to injury from acute or chronic traumatic events, such as late manifestation secondary to dislocation of the radial head. The latter is a rare entity in adults and always raises several differential diagnoses related to their origin and possible association with Achondroplasia. The compressive pathology of the posterior interosseous nerve can generate two different syndromes: posterior interosseous nerve syndrome or radial tunnel syndrome. This article describes the case of an adult with a posterior interosseous nerve entrapment neuropathy with unilateral radial head dislocation and personal history of Bone Dysplasia. Through analysis of electrodiagnostic and imaging studies, differential diagnoses, etiological and positive diagnosis of posterior interosseous nerve syndrome arise. As well as the possibility of conservative and surgical treatment.