ABSTRACT
Usher Syndrome (USH) is a genetically inherited condition characterized by congenital sensorineural hearing loss and progressive vision loss secondary to retinitis pigmentosa. Patients may also display vestibular areflexia and balance issues secondary to inner ear damage. Usher Syndrome is the most commonly diagnosed syndrome within the blind-deaf community, and it accounts for a significant portion of the hearing and visual deficit cases among patients younger than 65 years of age. Due to the reported prevalence of Usher Syndrome in the United States, it appears there is chronic underdiagnosis in clinical settings throughout the country. A possible explanation for this is the visual deficits of Usher syndrome do not appear until later in life and thus inappropriately lower the index of suspicion for this diagnosis in young children with hearing deficits. This case study highlights a healthy newborn who failed the universal newborn hearing screening (UNHS) bilaterally and a follow-up hearing screening in a pediatrician's office. Auditory brainstem response (ABR) later confirmed bilateral severe-to-profound sensorineural hearing loss. Upon genetic testing, an abnormality in the Unconventional Myosin VII-A (MYO7) gene was discovered and consistent with Usher syndrome Type 1B (USH1B). Usher Syndrome should be considered on the differential for patients with congenital hearing loss. Genetic counseling should be used if no other cause of sensorineural hearing loss is identified. Due to the progressive nature of this condition and the physical and developmental deficits that will transpire without treatment, a genetic panel for hearing loss should be prioritized to determine the presence of genetic mutations suggesting Usher syndrome.
ABSTRACT
Sjogren's Syndrome is a chronic multisystem autoimmune condition where lymphocytes attack exocrine glands. Although this condition occurs in pediatric populations, it is often a missed diagnosis or diagnosis made after significant disease progression, frequently leading to extensive investment of time and resources. This case study follows a six-year-old African American female who, after an extensive medical course, was ultimately diagnosed with Sjogren's Syndrome. This case study intends to increase awareness of the potential abnormal presentations of this connective tissue disease in special populations, specifically school-aged pediatric patients. Even with the rarity of this condition in the pediatric population, physicians should keep Sjogren's Syndrome on their differential diagnosis when a patient presents with atypical or non-specific autoimmune-like symptoms. The presentation of children can be more severe than anticipated in an adult. A rapid, multi-disciplinary approach must be implemented to improve the prognosis of pediatric patients with Sjogren's Syndrome.
