ABSTRACT
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
Subject(s)
Cochlear Implantation , Hearing Loss, Bilateral/rehabilitation , Hearing Loss, Sensorineural/rehabilitation , LEOPARD Syndrome/rehabilitation , Child, Preschool , Cochlear Implants , Hearing Loss, Bilateral/etiology , Hearing Loss, Sensorineural/etiology , Humans , LEOPARD Syndrome/complications , Mainstreaming, Education , Male , Persons With Hearing Impairments , Speech , Speech Perception , Speech TherapySubject(s)
LEOPARD Syndrome/diagnosis , Adolescent , Amino Acid Substitution , Chromosomes, Human, Pair 12/genetics , Cochlear Implantation , Cysteine/genetics , DNA Mutational Analysis , Deafness/diagnosis , Deafness/genetics , Deafness/rehabilitation , Diagnosis, Differential , Exons/genetics , Female , Humans , LEOPARD Syndrome/genetics , LEOPARD Syndrome/rehabilitation , Point Mutation , Protein Tyrosine Phosphatase, Non-Receptor Type 12 , Tyrosine/geneticsABSTRACT
The rare multiple lentigines (LEOPARD) syndrome represents a complex of skin, cardiac, skeletal, inner ear and other malformations. There is marked variability in expression of the syndrome. We report on a 20 year old man, showing typical lentiginosis, a retardation of growth, tachycardiac conduction abnormality, ophthalmologic manifestations and a sensorineural hearing loss. Pathogenesis, clinical and differential diagnostic aspects are discussed in this case report. The early diagnosis of a senosorineural hearing loss is useful in order to provide appropriate rehabilitation. When lentiginosis is diagnosed, it is important to consider further abnormalities such as cardiomyopathy, which can be associated with a high mortality.
