The eye, ear and the kidney: a diagnostic triad in a child with progressive sensory deficits

Abstract

Progressive hearing loss and visual impairment in childhood are often evaluated as isolated sensory disorders; however, their coexistence may indicate an underlying multisystem disease. We report a 13-year-old boy who presented with a three- to four-year history of gradually progressive bilateral hearing impairment and diminution of vision. Audiological assessment demonstrated bilateral moderate sensorineural hearing loss, while ophthalmological examination revealed bilateral anterior lenticonus with associated refractive abnormalities. Further evaluation uncovered persistent microscopic hematuria and proteinuria of glomerular origin. The combination of renal, auditory, and ocular abnormalities pointed to a hereditary basement membrane disorder affecting multiple organ systems. Based on the characteristic clinical triad, a diagnosis of Alport syndrome was established. Molecular confirmation was advised but could not be performed because of financial constraints. The patient was initiated on enalapril for renoprotection, fitted with bilateral hearing aids, and referred for ophthalmological surgical evaluation. This case highlights the importance of considering an underlying systemic disorder in children presenting with concurrent sensory deficits. It also emphasizes the value of simple urinalysis as an inexpensive screening tool capable of revealing occult renal involvement and facilitating early diagnosis before the onset of advanced kidney disease.