Several diseases cause a salt-wasting state during infancy, notably with severe diarrhea, endocrine abnormalities (such as congenital adrenal hyperplasia), renal disease, and cystic fibrosis.1 However, none are associated with a specific eye abnormality. Pseudohypoaldosteronism (PHA) is characterized by salt wasting with hyponatremia and hyperkalemia in the presence of elevated serum aldosterone levels.2 We report a unique eyelid abnormality resulting from PHA, which may be a valuable clue to the presence of a life-threatening disease, the diagnosis of which can only be made following complex biochemical investigation.
Report of a Case.
A full-term, 5-day-old male neonate was admitted to the special care baby unit with a white discharge from the eyes and vesicular rash on the scalp and trunk. A row of 0.5-mm white toothlike projections were noted on the margin of all 4 eyelids (Figure 1), consisting of solid columns of white material that were visible within and
Ainsworth JR, Ramsay AS, Galea P, Diaper C. Disordered Meibomian Gland Function in Pseudohypoaldosteronism. Arch Ophthalmol. 1996;114(8):1018-1019. doi:10.1001/archopht.1996.01100140226025