PURPOSE: To report a case of a Gómez-López-Hernández syndrome (GLHS) variant with corneal neurotrophic ulcer. METHODS: Case report and review of the literature. RESULTS: A 6-year-old child presented with watering in the right eye for 3 days without ocular inflammation or pain. He had a peculiar facial phenotype and scalp alopecia in the right side. Slit-lamp examination showed an epithelial defect in the right eye and a corneal scar around the defect. Belmonte noncontact esthesiometry showed reduced corneal mechanosensory and thermal sensitivity. In vivo confocal microscopy revealed the absence of innervation in the right cornea. There was also an evident insensitivity in the alopecic region. Despite normal magnetic resonance imaging, the phenotypic manifestations along with ocular features suggested the diagnosis of a GLHS variant. CONCLUSIONS: Patients with GLHS remain asymptomatic even when they develop a corneal ulcer. Parents should be advised regarding the susceptibility of an affected child to the development of corneal lesions and the importance of regular follow-up and prompt treatment to prevent vision-threatening abnormalities.
PURPOSE: To report a case of a Gómez-López-Hernández syndrome (GLHS) variant with corneal neurotrophic ulcer. METHODS: Case report and review of the literature. RESULTS: A 6-year-old child presented with watering in the right eye for 3 days without ocular inflammation or pain. He had a peculiar facial phenotype and scalp alopecia in the right side. Slit-lamp examination showed an epithelial defect in the right eye and a corneal scar around the defect. Belmonte noncontact esthesiometry showed reduced corneal mechanosensory and thermal sensitivity. In vivo confocal microscopy revealed the absence of innervation in the right cornea. There was also an evident insensitivity in the alopecic region. Despite normal magnetic resonance imaging, the phenotypic manifestations along with ocular features suggested the diagnosis of a GLHS variant. CONCLUSIONS:Patients with GLHS remain asymptomatic even when they develop a corneal ulcer. Parents should be advised regarding the susceptibility of an affected child to the development of corneal lesions and the importance of regular follow-up and prompt treatment to prevent vision-threatening abnormalities.
Authors: Alessandro Meduri; Giovanni William Oliverio; Antonio Valastro; Claudia Azzaro; Umberto Camellin; Francesco Franchina; Leandro Inferrera; Anna Roszkowska; Pasquale Aragona Journal: Front Med (Lausanne) Date: 2022-05-30
Authors: Eduardo Perrone; Vânia D'Almeida; Nara Lygia de Macena Sobreira; Claudia Berlim de Mello; Allan Chiaratti de Oliveira; Stênio Burlin; Maria de Fátima de Faria Soares; Mirlene Cecília Soares Pinho Cernach; Ana Beatriz Alvarez Perez Journal: Am J Med Genet A Date: 2020-04-17 Impact factor: 2.802