Open AccessA case of occult bilateral optic nerve aplasia with pituitary dysfunction: hidden anomaly missed on ultrasound
Author(s) -
Harsha Saxena,
Brijesh Takkar,
Arun Kumar,
Radha Sarawagi
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-232839
Subject(s) - medicine , hypopituitarism , aplasia , occult , optic nerve , radiology , surgery , pathology , ophthalmology , alternative medicine
We report a case of 'occult' bilateral optic nerve aplasia (ONA) where pituitary dysfunction was discovered subsequently. The initial ultrasonography had missed ONA in a child with bilateral microcornea, small non-dilating pupils and roving eye movements. Due to presence of relevant clinical signs in this case, ONA was re-evaluated with MRI, and was subsequently discovered to be associated with life-endangering hypopituitarism. This case raises the possible underestimation of ONA, and hence also the risk of missing life-threatening endocrine disorders.