Pearl Syndrome With an Unusual Association of Spina Bifida and Congenital Cholesteatoma

We report a case of a one-day-old female with congenital facial nerve palsy, bilateral microtia, congenital heart disease, spina bifida, and congenital cholesteatoma. The newborn was brought by the mother with complaints of abnormally looking ear and a facial droop toward the left side, following which a two-dimensional echocardiography was done showing the atrial septal defect and ventricular septal defect. Computed tomography of the temporal bone showed the presence of congenital cholesteatoma in the left ear. MRI of the lumbosacral spine was suggestive of spina bifida occulta. Brainstem evoked response audiometry was suggestive of sensorineural hearing loss. Such a combination of symptoms is very rare, and therefore this case is being reported.