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Reporte de una nueva mutación en Colombia: un paciente con síndrome de Kabuki

Introducción: el síndrome de Kabuki es un desorden pediátrico congénito de origen genético. Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades ver...

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Published in:Iatreia (Medellín, Colombia) Colombia), 2020-01, Vol.33 (1), p.78-83
Main Authors: Hernández-Woodbine, María José, Castillo-Rix, Daniel Sebastián del, Baquero-Mejía, Ingrid Carolina
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description Introducción: el síndrome de Kabuki es un desorden pediátrico congénito de origen genético. Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades vertebrales. La mayoría cursan con dificultad del aprendizaje. Objetivo: reportar un caso pediátrico de síndrome de Kabuki y fomentar el reconocimiento del fenotipo asociado para facilitar su diagnóstico oportuno. Caso clínico: paciente masculino de 9 años con características clínicas y diagnóstico genético probable para síndrome de Kabuki. Presenta fisuras palpebrales largas, paladar en ojival, baja implantación auricular, persistencia de almohadillas en pulpejos de dedos, talla baja y colangitis esclerosante primaria. Conclusión: el síndrome de Kabuki tipo 1, se caracteriza por alteraciones faciales que inducen una sospecha diagnóstica. El paciente reportado presentaba múltiples hallazgos descritos. En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica. PALABRAS CLAVE Anomalías Craneofaciales; Colangitis Esclerosante; Colombia; Fenómenos Genéticos Report of a new mutation in Colombia in a patient with Kabuki Syndrome Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease. KEY WORDS Congenital Abnormalities; Cholangitis Sclerosing; Colombia; Genetic Phenomena
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Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades vertebrales. La mayoría cursan con dificultad del aprendizaje. Objetivo: reportar un caso pediátrico de síndrome de Kabuki y fomentar el reconocimiento del fenotipo asociado para facilitar su diagnóstico oportuno. Caso clínico: paciente masculino de 9 años con características clínicas y diagnóstico genético probable para síndrome de Kabuki. Presenta fisuras palpebrales largas, paladar en ojival, baja implantación auricular, persistencia de almohadillas en pulpejos de dedos, talla baja y colangitis esclerosante primaria. Conclusión: el síndrome de Kabuki tipo 1, se caracteriza por alteraciones faciales que inducen una sospecha diagnóstica. El paciente reportado presentaba múltiples hallazgos descritos. En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica. PALABRAS CLAVE Anomalías Craneofaciales; Colangitis Esclerosante; Colombia; Fenómenos Genéticos Report of a new mutation in Colombia in a patient with Kabuki Syndrome Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease. 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En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica. PALABRAS CLAVE Anomalías Craneofaciales; Colangitis Esclerosante; Colombia; Fenómenos Genéticos Report of a new mutation in Colombia in a patient with Kabuki Syndrome Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. 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En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica. PALABRAS CLAVE Anomalías Craneofaciales; Colangitis Esclerosante; Colombia; Fenómenos Genéticos Report of a new mutation in Colombia in a patient with Kabuki Syndrome Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. 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subjects Congenital diseases
Genetics
MEDICINE, GENERAL & INTERNAL
Mutation
title Reporte de una nueva mutación en Colombia: un paciente con síndrome de Kabuki
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