First child of a healthy father and mother undergoing treatment for cystic acne who reported risks to him 10 mg per day for 3 months prior to pregnancy, prescribed by a dermatologist.
A check-up during the second month of pregnancy revealed acid suppression.
At the third month she had symptoms of premature delivery.
The child was born by vaginal delivery, full term, suitable for gestational age, without asphyxia.
She presented difficulties in suction and authenticity that required phototherapy, without other complications.
Impairment of global psycho-motor development (MSRD).
At 6 months she was hospitalized for a diarrheal condition, with hypotonic syndrome, global RDSM and anisocoria.
Brain computed tomography showed increased subarachnoid space, frontal signs and probable signs of posterior fossa.
In our service we found a normal cranial circumference, hypernea episodes, little eye contact, ocular apraxia, anisocoria with mydriasis of the right eye and abnormal axial fundus with abnormal accumulation of the extensor retina not bilateral.
She also had a history of chronic constipation.
Biochemical tests in blood and urine, acylcarnitines, electrophysiology (electroencephalogram, visual evoked potentials and auditory evoked potentials), karyogram, digestive tract manifestations were normal.
Neuroophthalmological evaluation showed normal papillae with anisocoria of the right eye greater than left, without bilateral photomotor reflex, suggesting a dorsal mesencephalic lesion.
Magnetic resonance imaging of the brain showed agenesis of the cerebellar vermis.
