Report of two cases of Walker-Warburg Syndrome: clinical and radiological aspects

Case presentation: T.V, F, 4 years-old. Consanguineous parents. G1PN1A0. At birth, diagnosis of Congenital Retinal Detachment. Hypotonic patient, at 6 months age, she had her first seizure, since then using anti-seizure drugs without good control. Positive family history for epilepsy and intellectual disability. Patient head support. It has hypertelorism, high palate, corneal opacity. Grade 2 strength in the upper lower limbs, Global hypotonia, with axial predominance. CPK: 4500U/L. Neuroimaging: CCT - diffuse hypodense area white matter, addition to an alteration sulci between cerebral gyri, predominantly frontal lobe, dilatation lateral ventricles. Cranial MRI shows imaging findings suggestive Walker-Warburg Syndrome, corroborating clinical findings. a patient myopathy associated ocular changes epilepsy. Molecular analysis by genetic panel POMCGNT1 mutation homozygous variant c.546_576del(p.Ala189*) M.I.M, years. Non-consanguineous Child evolved did not acquire cephalic support skills, dysphagia. He started seizures ~1 year age. Family History Sister died years old epilepsy, ophthalmologic alteration. Mother speech delay. Examination: Spontaneous eye opening. Incoordination gaze, microphthalmia leukocoria. Convergent strabismus. Right fixed. Light stimulus follows. No other cranial nerves. More accentuated hypotonia limbs. skull Dec 2020 Simplification giriform pattern thickening gray matter frontal, insular mesial temporal lobes bilaterally (perisylvian polymicrogyria?). Medialization verticalization body hippocampi coronal plane. Symmetrical hippocampal signal strength. Increase dimensions ventricular system, especially supratentorial significant dysplasia midbrain ceiling. Brainstem Z-morphology, showing anterior angulation hypoplasia region. Volumetric reduction bridge, left. Cerebellar morphological dysplastic appearance. compound heterozygosis.