Female born at term by vaginal delivery.
Primer son of non-consanguineous parents.
Intrauterine detection in ultrasound control of mild bilateral ventriculomegaly at week 21 of gestation that persists in successive controls.
No other incidents are observed during pregnancy.
The Apgar 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 3,480 grams, height was 55 cm and head circumference was 39.5 cm. At birth, the patient presented features of dyspnoea, coughing, frontal hypertelorism, and anteverted fever.
Generalized hypotonia progressing to generalized hypertonia with live reflexes, clonus and generalized seizures.
There is no visual follow-up.
During the neonatal period, an EEG showed mild diffuse slowing.
Brain ultrasound showed asymmetric ventriculomegaly predominantly left hemispheric and hemispheric in favor of the left side.
Cranial computed tomography shows a prominent ventricular system.
Magnetic resonance imaging shows cortical dysplasia with foci of nodular heterotopia.
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Metabolic and infectious screening is normal.
Karyotype 46XX.
At 7 months of age, the patient was referred to the geriatric service due to esotropia of the right eye of 15o.
It presents left eye dominance, nystagmus emotion in both eyes.
The retina shows a dystrophic aspect with diffuse disorganization and pigmentary anomalies.
Hypoplasia of the optic nerve
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He had myopia of -13.00 diopters (-2 to 90o) in right eye and -14.00 diopters (-2 to 180o) in left eye.
Optical correction is prescribed.
Visual evoked potentials are pathological with an increase in latency period.
An electroretinogram cannot be performed due to lack of cooperation.
At 14 months, the great left hemicraneal hypertofia makes it impossible to carry glasses. Contact lenses that are welcome are prescribed.
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At 10 months, the patient presented significant psychomotor retardation, hypertonia of extremities and cervicoaxial hypotonia.
No seat control.
It improves visual contact with greater interaction with the environment and social smile.
Electroencephalographic controls show an irritable, non-parerical tracing.
It presents a progressive increase of the left hemibody, plagiocephalia and decrease of the ipsilateral orbital.
Progressive deformity appearance: tibial varus, thigh valgus and bilateral femoral thinning.
At 15 months, it presents macrocephalic appearance with involvement of the craniofacial mass.
Epidermal sinuses and hemangiomas with predominance on the left side.
Stability as response to stimuli.
At 16 months of age, laryngotracheomalacia was performed.
He died on the sixth postoperative day due to pneumonia.
