ABSTRACT
We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 5 , Neurocutaneous Syndromes/diagnosis , Neurocutaneous Syndromes/genetics , p120 GTPase Activating Protein/genetics , Blood Vessels/abnormalities , Blood Vessels/metabolism , Brain/metabolism , Brain/pathology , Brain/physiopathology , Child , Disease Progression , Female , Gene Deletion , Humans , MEF2 Transcription Factors/deficiency , MEF2 Transcription Factors/genetics , Neurocutaneous Syndromes/pathology , Neurocutaneous Syndromes/physiopathology , Penetrance , Skin/blood supply , Skin/metabolism , Skin/pathology , p120 GTPase Activating Protein/deficiencyABSTRACT
Se describe un caso clínico con manifestaciones compatibles con una neuralgia trigeminal. La investigación por imágenes muestra un probable osteoma de seno maxilar que, una vez operado, es confirmado histológicamente. Los síntomas desaparecen automáticamente. A propósito del caso, se hacen consideraciones acerca de los aspectos clínicos, diagnósticos y terapéuticos (AU)
Subject(s)
Humans , Female , Middle Aged , Trigeminal Neuralgia , Osteoma/surgery , Osteoma/diagnosis , Maxillary Sinus Neoplasms/surgery , Tomography, X-Ray ComputedABSTRACT
Se describe un caso clínico con manifestaciones compatibles con una neuralgia trigeminal. La investigación por imágenes muestra un probable osteoma de seno maxilar que, una vez operado, es confirmado histológicamente. Los síntomas desaparecen automáticamente. A propósito del caso, se hacen consideraciones acerca de los aspectos clínicos, diagnósticos y terapéuticos
