A 20-month-old boy was referred to evaluate a 6-week history of exophthalmos in the right eye (OD).
At the first visit, the general pediatric examination was good and showed no neurological abnormalities.
The exploration revealed proptosis and hypertropia of the right eye with facial expression.
With the fixation of the frontotemporal region, the child had pain.
The anterior segment of the RE explored with linterna was apparently normal.
Intrinsic motility was normal while motility presented limitation in isolation and decrease in DO.
Magnetic resonance imaging (MRI) revealed a recessive lesion displacing the ocular globe upwards with destruction of the lateral orbital wall and multiple lesions in the sacabulated skull.
Other studies demonstrated similar lesions in the vertebrae and long bones of infected bones.
Signaling and biochemical tests showed normal values.
A biopsy of bone origin revealed Langerhans cells with inflammatory infiltrate and immunohistological study for S100 protein (indicating its presence in the neural crest) and for CD68 surface proteins expressed as lysosomal protein
Two months later the child was hypersomnated day and night with excessive fluid intake.
A new MRI showed a lesion affecting the hypothalamic-pituitary area, which led to the diagnosis of diabetes insipidus.
