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INTRODUCTION: Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the accumulation of two glycosaminoglycans in cell lysosomes, namely, chondroitin and keratan sulfate. OBJECTIVE: To present two female patients with Morquio A syndrome in their late adult years (over 50 years of age) with a classical phenotype, treated with enzyme replacement therapy; and to present a summary of the natural history and the characteristics of the disease, and the benefit of comprehensive management. MATERIALS AND METHODS: Descriptive clinical study before and after the treatment with enzyme replacement therapy as part of the comprehensive management of MPS IVA. RESULTS: Enzyme replacement therapy with elosulfase alfa was effective, with an adequate safety profile in these two patients, showing evidence of sustained improvement in terms of endurance and gait patterns. CONCLUSION: We present two cases of MPS IVA, with longer survival than reported previously in classical phenotypes associated with this disease condition. There is a paucity of reports of similar cases in the literature. We believe that the clinical heterogeneity of the disease manifesting with the classical phenotype, together with comprehensive management, have played a role in the survival of these two patients. Therapy with elosulfase alfa as part of comprehensive management has been crucial; we suspect a clinical response and infer a better quality of life and reduced burden for the caregiver, supporting its use in older patients.

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Resumen: dentro de las displasias óseas hay cuadros clínicos que hacen parte de las denominadas condrodisplasias metafisarias, conocidas también como disostosis metafisarias, las cuales presentan mínimas diferencias entre sí, lo que las hace susceptibles de ser confundidas con otros cuadros clínicos como la acondroplasia y el raquitismo. En este artículo se presenta un caso clínico de condrodisplasiametafisaria tipo Schmid de un paciente de Popayán, Colombia, al igual que algunas consideracionessobre las principales características clínicas, radiológicas, de diagnóstico y tipo de herencia de esta enfermedad. El caso clínico corresponde a un paciente de género masculino de 23 meses de edad, en quien se inician estudios por la presencia de talla baja desproporcionada. Los resultados mostraron coxa vara, genu varo y extremidades cortas, con un fenotipo similar en la madre y el abuelo materno. Las radiografías evidencian la presencia de irregularidad con “deshilachamiento” de las metáfisis de huesos largos; además, ensanchamiento y esclerosis en las metáfisis proximales de ambos fémur. La meta final es ser confirmado por medio de pruebas genéticas. En conclusión, las condrodisplasias metafisarias, especialmente la tipo Schmid, son enfermedades caracterizadas por talla baja y hallazgos radiológicos especiales, dados principalmente por el compromiso metafisario a nivel de los huesos largos, que en conjunto con las características fenotípicas pueden conducir a la sospecha e identificación de este tipo de patología.

Abstract: between the dysplastic bone pathologies there are some medical conditions that belong to so-called metaphyseal chondrodysplasias, also known as metaphyseal dysostosis. These differ slightly from each other, making them capable of being confused with other medical conditions such as achondroplasia and rickets. This article presents a case of Schmid type metaphyseal chondrodysplasiafrom Popayan, Colombia, as well as some considerations about the main clinical characteristics, radiological, diagnosis, and type of inheritance of this disease. The clinical case corresponds to a male patient, 23 months old, who was studied by the presence of disproportionate short stature. Findings showed coxa vara, genu varus, and short limbs, with similar phenotype to the mother and maternal grandfather. The radiological images showed the presence of irregularity with ®fraying¼ of the metaphysis of long bones, in addition to widening and sclerosis in the proximal metaphysis of both femurs. The ultimate goal is to be confirmed by genetic testing. In conclusion, the metaphyseal chondrodysplasias, especially Schmid type, are diseases characterized by short stature and by special radiological findings, mainly given by the metaphyseal affectation of long bones, which together with the phenotypic characteristics may lead to the suspicion and identification of this disease.Keywords: Schmid type metaphyseal chondrodysplasia, osteochondrodysplasias, collagen type.

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PURPOSE: To assess helical computed tomography (CT) with contrast material administered intravenously, orally, and rectally (triple contrast helical CT)) in the prospective evaluation of stable patients with abdominal gunshot wounds in whom there is no clinical indication for immediate exploratory laparotomy. MATERIALS AND METHODS: The study was conducted for 19 months. All patients met the following inclusion criteria: age of 16 years or older, hemodynamic stability, no clinical signs of peritoneal irritation, and signed consent to participate. Patients with obvious indications for laparotomy, such as gastrointestinal bleeding or evisceration, were excluded from the study. Forty-seven patients fulfilled the criteria and underwent abdominal triple-contrast helical CT. CT findings were evaluated by one of four radiologists for evidence of peritoneal penetration and injury to solid organs or hollow viscera. Patients were followed up clinically for 13 weeks. CT findings were compared with those at surgery and/or clinical follow-up. RESULTS: CT demonstrated abnormalities in 27 (57%) patients. Laparotomy was performed in 11 (23%) patients; 10 procedures were therapeutic and one was nontherapeutic. The remaining 20 patients had a negative CT scan. These patients were treated conservatively. One injury was missed at CT. For prediction of the need for laparotomy, sensitivity of CT was 96%; specificity, 95%; positive predictive value, 96%; negative predictive value, 95%; and accuracy, 96%. CONCLUSION: In stable patients with gunshot wounds to the abdomen in whom there is no indication for immediate surgery, triple-contrast helical CT can help reduce the number of cases of unnecessary or nontherapeutic laparotomy (negative laparotomy) and can help identify patients with injuries that may be safely treated without surgery.

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Para el manejo quirúrgico de la parálisis del oblicuo superior es indispensable saber si son unilaterales o bilaterales. La clasificación de Knapp con algunas modificaciones continúa siendo nuestra base para una correcta decisión quirúrgica

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El tratamiento del síndrome de Brown verdadero está solo indicado si hay una hipotropia en posición primaria de la mirada o una posición anormal de la cabeza. Se valoraron los resultados de los tratamientos quirúrgicos con tenotomía del oblicuo superior, tenotomía del oblicuo superior con debilitamiento simultáneo del oblicuo inferior y la elongación con banda de silicona

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Se presentan los resultados de los tratamientos de la DVD bilateral asimétrica, monocular y la DVD asociada a hiperfunción de los oblicuos inferiores. En 35 pacientes se hicieron retroinserciones bilaterales asimétricas de los rectos superiores, obteniéndose buenos resultados en 25 pacientes. En 17 pacientes con DVD monocular se hizo retroinserción solamente de un recto superior, obteniéndose buenos resultados en 12 pacientes. En 19 pacientes se hizo una transposición anterior de los oblicuos inferiores para pacientes con DVD disociada a una hiperfunción de oblicuos inferiores, obteniéndose buenos resultados en 14 pacientes

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