Woman born at term by vaginal delivery. First child of non-consanguineous parents. Intrauterine detection of mild bilateral ventriculomegaly in the 21st week of gestation, which persisted in successive check-ups. No other incidents were observed during pregnancy. The Apgar test score was 3/10, 4/10 and 8/10 at 1, 10 and 20 minutes respectively, requiring endotracheal intubation in the delivery room. Birth weight was 3480 grams, length 55 cm and head circumference 39.5 cm. At birth the baby had dysmorphic features: coarse fascia, hypertelorism, anteverted nostrils, microretrognathia and frontal asymmetry with left prominence. Generalised hypotonia progressing to generalised hypertonia with vivid reflexes, clonus and generalised convulsive episodes. There is no visual monitoring. During the neonatal period, an electroencephalogram was performed showing a discrete diffuse slowing. Brain ultrasound showed asymmetric ventriculomegaly with left ventriculomegaly and hemispheric asymmetry in favour of the left side. Cranial computed tomography showed prominence of the ventricular system. Magnetic resonance imaging showed cortical dysplasia with foci of nodular heterotopia.
Metabolic and infectious screening is normal. Karyotype 46XX.
At 7 months of age she was referred to the ophthalmology department for esotropia of the right eye of 15º. She presented with left eye dominance, abduction nystagmus in both eyes. The retina had a dystrophic appearance with diffuse disorganisation and retinal pigmentary abnormalities. Optic nerve hypoplasia.
Myopia of -13.00 dioptres (-2 to 90º) in the right eye and -14.00 dioptres (-2 to 180º) in the left eye. Optical correction is prescribed. Visual evoked potentials are pathological with an increased latency period. An electroretinogram could not be performed due to lack of cooperation. At 14 months, the large left hemicranial hypertophy made it impossible to wear glasses, and contact lenses were prescribed, which were well tolerated.
At 10 months of age, there was significant psychomotor retardation, hypertonia of the extremities and cervico-axial hypotonia. There is no head control or sitting. Eye contact improves with increased interaction with the environment and social smile. Electroencephalographic controls show an interhemispheric asymmetry of the tracing, without irritative paroxysms. There is a progressive enlargement of the left hemibody, plagiocephaly and lowering of the ipsilateral orbit.
Progressive appearance of deformities: tibia vara, coxa valga and bilateral femoral thinning. At 15 months, macrocephalic appearance with involvement of the craniofacial massif. Epidermal nevus and scattered haemangiomas, predominantly on the left side. Spasticity in response to stimuli. At 16 months of age, tracheostomy was performed due to laryngotracheomalacia. He died on the sixth postoperative day due to pneumonia.
