ABSTRACT
RESUMEN Se presenta el caso del paciente de 36 años de edad, con antecedentes de acondroplasia que desde hace 7 meses sufrió una lesión traumática no de gravedad en la rodilla derecha. La cual comienza a aumentar de volumen con contenido líquido fluctuante. Fue puncionado en dos ocasiones obteniéndose líquido serohemático; al no resolver y continuar aumentando de tamaño, se le plantea que es portador de un hematoma seroso de Morel Lavallée, que se produce por la fricción entre el tejido celular subcutáneo y la fascia. Su localización es infrecuente en la rodilla por lo que se decide presentar el caso ya que en la literatura revisada; no aparece ningún caso descrito. Por lo que constituye el objetivo principal de este trabajo, describir su proceder y la eficacia del tratamiento quirúrgico, con el que se obtuvo resultado satisfactorio (AU).
ABSTRACT We present the case of a patient aged 36 years, with antecedents of achondroplasia who 7 months ago suffered a non serious traumatic lesion in the right knee. The volume of the lesion began to increase with a fluctuant fluid contain. It was punctured twice draining serohematic fluid; it did not solve and the size increased more and more, so the patient was said that he had a serous Morel Lavallée hematoma, produced by the friction between the subcutaneous cell tissue and fascia. Its location in the knee is infrequent and it was not found any case like this in the reviewed literature; therefore we decided to present the case. The main objective of our work was describing it, showing the procedure and efficacy of the surgical that gave a satisfactory result (AU).
Subject(s)
Humans , Male , Adult , Hematoma/epidemiology , Knee/abnormalities , Achondroplasia/diagnosis , Achondroplasia/pathology , Wounds and Injuries/diagnosis , Friction/physiology , Fascia/abnormalitiesABSTRACT
OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients. The most common clinical intercurrences were middle ear dysfunction, sleep apnea, limb pain and obesity from 2 to 9 years of age. One patient was large for the gestational age but did not develop obesity. One patient developed hydrocephalus at 10 years old. The current age of the patients varies from 15 months to 36 years. The molecular study performed by Sanger sequencing of the common heterozygous mutation 1138G>A in FGFR3 was positive in all patients. Four cases were inherited, and 35 were sporadic (paternal age from 19 to 66 years). CONCLUSIONS: The diagnoses were made early based on clinical and radiographic findings. All cases were confirmed molecularly. Despite presenting a benign course, it is necessary to establish a systematic protocol for the surveillance of these patients due to the common clinical intercurrences.
Subject(s)
Humans , Male , Female , Infant, Newborn , Adult , Middle Aged , Aged , Young Adult , Achondroplasia/diagnosis , Achondroplasia/pathology , Achondroplasia/genetics , Radiography , Retrospective Studies , Follow-Up Studies , Age Factors , Molecular Diagnostic Techniques , Receptor, Fibroblast Growth Factor, Type 3/genetics , MutationABSTRACT
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
Subject(s)
Female , Humans , Pregnancy , Abortion, Induced , Achondroplasia/diagnostic imaging , Achondroplasia/pathology , Bone and Bones/pathology , Fetal Diseases/diagnostic imaging , Fetal Diseases/pathology , Ultrasonography, PrenatalABSTRACT
Se describen dos casos clínicos de acondroplasia, atendidos en el Servicio Nutrición, Crecimiento y Desarrollo del Hospital de Niños J. M. e los Ríos, de Caracas, y se destacan sus características clínicas y antropométricas más importantes. Como se trata de una alteración del crecimiento, su evaluación y control, con los habituales valores de referencia (Tanner-Whitehouse(TW) o estudio transversal de Caracas (ETC)) para poblaciones normales, no es adecuado. Se recomienda que en la evaluación y el seguimiento del crecimiento de estos pacientes, se usen gráficas que proporcionen valores de crecimiento característicos de la población de acondroplásicos