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