Ophthalmologic manifestations of cri-du-chat syndrome. Case report
Keywords:
case reports, cri-du-chat syndrome, exotropia, hypertelorism, preschool child, vision disorders, visual acuityAbstract
Introduction: cri-du-chat syndrome (maladie du cri du chat, in French) is a genetic disorder caused by the deletion of the distal short arm of chromosome 5 (5p-). It is rare and predominates in girls. It is diagnosed at birth by a characteristic high-pitched cry resembling a feline's sound.
Objective: to present the case of a minor diagnosed with cri-du-chat syndrome, with emphasis on the associated ophthalmological conditions.
Case presentation: a four-year-old female mixed-race minor. She resides in Ambato, Tungurahua province (Ecuador). At birth, she emitted the characteristic cry. She presents tetralogy of Fallot, global developmental delay, and decreased visual acuity. Ophthalmological examination revealed bilateral epicanthus, hypertelorism, and divergent strabismus. Additional testing was indicated for her and her parents; they also received genetic counseling. Her regular follow-up was maintained in the clinic to ensure appropriate therapeutic treatment based on the progression of her visual impairment.
Conclusions: the ophthalmological conditions associated with this disease caused the patient's visual impairment. Regular checkups in the ophthalmology clinic were recommended because there is no specific treatment for this syndrome. Early, systematic, and multidisciplinary rehabilitation is the key to improving the quality of life for the patient and her family. This case provided scientific evidence on the importance of comprehensive pregnancy monitoring and assessment, and early diagnosis and treatment of patients.
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