Gomez Lopez Hernandez Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

CEREBELLOTRIGEMINAL DERMAL DYSPLASIA CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA, Cerebellotrigeminal dermal dysplasia, Cerebellotrigeminal dermal dysplasia syndrome

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Introduction

Syndrome that may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anaesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.

100 Clinical Results associated with Gomez Lopez Hernandez Syndrome

100 Translational Medicine associated with Gomez Lopez Hernandez Syndrome

0 Patents (Medical) associated with Gomez Lopez Hernandez Syndrome

Literatures (Medical) associated with Gomez Lopez Hernandez Syndrome

01 Jan 2024·Journal of Human Genetics

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1

Article

Author: Murakami, Hiroaki ; Enomoto, Yumi ; Kurosawa, Kenji ; Kumaki, Tatsuro ; Aida, Noriko

Zic family member 1 (ZIC1), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains that is essential for the normal development of the cerebellum. Heterozygous loss-of-function of ZIC1 causes Dandy-Walker malformation, while heterozygous gain-of-function leads to a multiple congenital anomaly syndrome characterized by craniosynostosis, brain abnormalities, facial features, and learning disability. In this study, we present the results of genetic analysis of a male patient with clinically suspected Gomez-Lopez-Hernandez syndrome. The patient displayed multiple congenital abnormalities, including bicoronal craniosynostosis, characteristic facial features, cerebellar malformation with rhombencephalosynapsis, and temporal alopecia, and a de novo inversion of chromosome 3q. Breakpoint analysis using a Nanopore long-read sequencer revealed a breakpoint in the distal centromere of 3q24 located 7 kb downstream of the 3' untranslated region of ZIC1. On the basis of the clinical similarities, we concluded that the abnormalities in this patient were caused by the transcriptional dysregulation of ZIC1. We hypothesize the underlying molecular mechanisms of transcriptional dysregulation of ZIC1 such as the abnormalities in topologically associated domains encompassing ZIC1. This study highlights the usefulness of long-read sequencing in the analysis of de novo balanced chromosomal abnormalities.

01 Jan 2024·Epilepsy & Behavior Reports

Partial Rhombencephalosynapsis Presenting in an Adult with Cerebello-Trigeminal-Dermal Dysplasia

Article

Author: Kai Liow, Kore ; Ghaffari-Rafi, Arash ; Carrazana, Enrique ; Tiffany Cava Morden, Frances ; Xin Liang, Bao ; Nguyen, Linda

Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is a neurocutaneous disorder typically presenting in childhood. GLHS is characterized by rhombencephalosynapsis (RES) and partial alopecia, with or without trigeminal anesthesia. We describe a rare case of GLHS in a paucisymptomatic adult who presented with new-onset seizure-like activity. Magnetic resonance imaging revealed partial midline fusion of the cerebellar hemispheres, incomplete development of vermis, and slight medialization of the dentate nuclei: all consistent with the diagnosis of RES. Radiographic evidence combined with partial alopecia, truncal ataxia, and muscular hypotonia are suggestive GLHS diagnosis. Our report not only highlights the importance of maintaining GLHS on the differential for new-onset seizure-like activity, but also demonstrates how patients with GLHS may be minimally symptomatic and diagnosed in adulthood.Lay SummaryThe Gomez-Lopez-Hernandez syndrome (GLHS), or cerebellotrigeminal-dermal dysplasia, is a rare condition that affects both the nervous system and the skin. It involves abnormal development of the brain, partial alopecia [thinning of hair], and loss of sensation in the face. One specific brain malformation, called rhombencephalosynapsis (RES), results from abnormal formation of the cerebellum and is seen in GHLS.Both RES and GLHS present early in childhood, and cases presenting later in life are exceptionally rare. Here we describe a young adult with RES and GLHS whose normal development and mild clumsiness eluded recognition by doctors until early adulthood when she presented with a single seizure.

01 Apr 2023·Journal of Child Neurology

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

Article

Author: Viereck, Jason ; Liow, Kore K. ; Liang, Bao Xin ; Carrazana, Enrique

The specialty of Pediatric Neurology emerged during the 20th century, a period in which many neurologists played significant roles in revolutionizing this field. Two acclaimed pediatric neurologists of Hispanic origin, Drs Manual Gomez and Arturo Lopez-Hernandez, made substantial contributions to the literature on pediatric neurology. One of their remarkable contributions was their discovery of a new, rare neurocutaneous syndrome with variable phenotype, the Gomez-Lopez–Hernandez syndrome (GLHS). Here, we describe the current understanding of GLHS and the historical background of how 2 celebrated Hispanic pediatric neurologists discovered this rare, sporadic syndrome during a time when there was a limited representation of minorities in the medical profession.

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Gomez Lopez Hernandez Syndrome

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