Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico

Abstract

Introduction: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). Objective: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause. Clinical case: Preschool with a prenatal diagnosis of hydrocephalus and rhombencephalosynapsis, karyotype and study of TORCH was normal. At the moment of birth, the prenatal diagnoses were confirmed and a malformation of cerebral cortical development was excluded. During the first week of life, peritoneal ventricle shunt was performed. A reevaluation at age 4, the absence of corneal reflexes bilateral parietal and congenital focal alopecia associated with rhombencephalosynapsis, meet definitive criteria for cerebello-trigeminal-dermal displasia or Gómez-López-Hernández syndrome (GLHS). Conclusions: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed. Due to the new imaging and genetic technologies pre and post-natal, today it is possible to achieve a better and more accurate diagnosis of hydrocephalus with a genetic origin, in which the high suspicion of teams of clinical specialists is essential. Without accurate diagnosis, we can not access to a long-term prognosis, prevention of aggregate morbidity or an adequate genetic counseling, which are required in today's pediatrics.

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“…12 En la actualidad se dispone, en diverso grado, de pruebas genéticas y epigenéticas que permiten la identificación de gran parte de las anomalías congénitas. 13 La información acerca de la placenta enriquece el diagnóstico y es decisiva en varios casos. 14,15,16 En la autopsia deben observarse los cambios morfológicos y clasificarlos según las definiciones comunes de la Genética y de la Patología pediátrica y fetal.…”

The Gomez-Lopez-Hernandez Syndrome: The Contribution of 2 Hispanic Giants of Pediatric Neurology

“…Hydrocephalus is consistently present and may be associated with the structural anomalies caused by rhombencephalosynapsis. 7,8 Another common feature of the syndrome, although not as consistent, is trigeminal anesthesia, which presents as numbness of facial features, such as the eyes, sinuses, and mouth. Trigeminal anesthesia often affects the trigeminal nerve's ophthalmic (V1) branch, causing an abnormal sensation in the forehead regions and cornea.…”