Necrosis isquémica intestinal transmural en un paciente con síndrome de Kabuki: un reporte de caso

Kabuki syndrome (KS) is a rare genetic disorder in which mutations in the KMT2D or KDM6A genes result in a wide spectrum of clinical manifestations including development and growth delay; intellectual dysfunction; craniofacial dysmorphism; and various systemic structural and functional defects. We p...

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Bibliographic Details
Published inInternational Journal of Medical and Surgical Sciences Vol. 10; no. 3
Main Authors Dragustinovis Hinojosa, Gustavo, Mendoza, Humberto, Muñoz Maldonado, Gerardo Enrique, Méndez, Néstor, Gutiérrez González, Jorge Aurelio, Guerrero Zertuche, Juventino Tadeo
Format Journal Article
LanguageSpanish
Published 2023
Subjects
intestinal obstruction
Kabuki make up syndrome
Kabuki syndrome
obstrucción intestinal
síndrome de Kabuki
síndrome del maquillaje de Kabuki
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Summary:Kabuki syndrome (KS) is a rare genetic disorder in which mutations in the KMT2D or KDM6A genes result in a wide spectrum of clinical manifestations including development and growth delay; intellectual dysfunction; craniofacial dysmorphism; and various systemic structural and functional defects. We present the case of a 16-year-old male, diagnosed with KS in his infancy. He presented with acute diffuse abdominal pain, accompanied by distension, nausea and clinical data suggestive of intestinal obstruction. After radiological confirmation, focal intestinal necrosis was identified on exploratory surgery, so he underwent intestinal resection and ileostomy in shotgun. The final diagnosis was transmural intestinal ischemic necrosis with acute inflammatory process and serofibrinous peritonitis. El síndrome de Kabuki (SK) es un trastorno genético raro, en el que mutaciones en los genes KMT2D o KDM6A determinan la aparición de un amplio espectro de manifestaciones clínicas que incluyen retraso en el desarrollo y crecimiento; disfunción intelectual; dismorfias craneofaciales; y defectos sistémicos estructurales y funcionales varios. Presentamos el caso de un masculino de 16 años, con diagnóstico de SK en la infancia. Acude por dolor abdominal agudo difuso, acompañado de distensión, náusea y datos clínicos sugestivos de obstrucción intestinal. Tras la confirmación radiológica, se identifica necrosis intestinal focal a la intervención quirúrgica exploratoria, por lo que se somete a resección intestinal e ileostomía en escopeta. Se diagnostica finalmente, necrosis isquémica transmural intestinal con proceso inflamatorio agudo y peritonitis serofibrinosa. 
ISSN:0719-3904
0719-532X