| Journal: | Revista médica del Instituto Mexicano del Seguro Social |
| Database: | PERIÓDICA |
| System number: | 000378103 |
| ISSN: | 0443-5117 |
| Authors: | García Suárez, Adrián1 Benoit Dansac Rivera, Arie1 |
| Institutions: | 1Instituto Mexicano del Seguro Social, Hospital de Ortopedia, México, Distrito Federal. México |
| Year: | 2014 |
| Season: | Nov-Dic |
| Volumen: | 52 |
| Number: | 6 |
| Pages: | 692-695 |
| Country: | México |
| Language: | Español |
| Document type: | Artículo |
| Approach: | Caso clínico, descriptivo |
| English abstract | Typical clinical features of the Coffi n-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis. Due to its scarce incidence, it is diffi cult making an early diagnosis. The aim of this report was to document the anatomical peculiarities identifi ed during the surgical treatment of a patient with this syndrome. Clinical case: Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation from C2 to C7 necessary. During the surgery, in addition to calcifi cation of the yellow ligament, adhesions on the dura mater from C4 to C4, dark purplish color in this area and hourglass-shaped thinning were found; the ends at C3 and C6 were normal. The purpose of the surgery was to stop the myopathy. Post-operatively, the patient had pulmonary complications; at the sixth day he passed away due to ventilatory complications and inadequate secretion control. Conclusions: The Coffin-Lowry syndrome is a rare diagnosis in our country; neurological involvement at the spinal level is characterized by kyphosis or scoliosis; for its diagnosis, an adequate medical history and a karyotype are necessary |
| Disciplines: | Medicina |
| Keyword: | Cirugía, Neurología, Ortopedia, Síndrome de Coffin-Lowry, Retraso mental, Proteina quinasa, Escoliosis, Cifosis, Mielomalacia |
| Keyword: | Medicine, Neurology, Surgery, Orthopedics, Coffin-Lowry syndrome, Mental retardation, Protein kinase, Scoliosis, Kyphosis, Myelomalacia |
| Full text: | Texto completo (Ver PDF) |
