Gomez-Lopez-Hernandez Syndrome. A case report from the state of Amazonas and literature review
DOI:
https://doi.org/10.60104/revhugv11758Keywords:
Gomez-Lopez-Hernandez syndrome, rhombencephalosynapse, neurocutaneous syndrome, alopecia, trigeminal anesthesiaAbstract
The Gomez-Lopez-Hernandez syndrome (GLHS) also known as cerebellar-trigemino-dermal dysplasia is a rare neurocutaneous syndrome, with no known etiology and likely to be underdiagnosed. It has as diagnostic criteria a triad composed of rhombencephalosynapse, parieto-occipital alopecia and trigeminal anesthesia. Patients with the syndrome have specific phenotypic characteristics that make up the diagnostic picture of GLHS. We report a case of a 14-year-old female patient, with convergent strabismus, bilateral partial fronto-parietal alopecia, brachyturcephaly, with imaging studies showing rhombencephalosynapse in addition to findings that prove hydrocephalus. Our case includes the clinical and imaging diagnostic criteria, in addition to a phenotype common to other cases compatible with Gomez-Lopez-Hernandez Syndrome. We have included a literature review to further elucidate the syndromic picture.
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References
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