Related Experiment Video
Updated: Oct 2, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Oculocerebrorenal sydrome of Lowe. Apropos of three cases]
J A Bermúdez de la Vega1, F Camacho González, J González-Hachero
1Departamento de Pediatría, Hospital Universitario Virgen Macarena, Sevilla.
Abstract:
We report clinical features and course of Lowe's syndrome with regard to three cases. All of them are males and clear inherited transmission was demonstrated in patients 2 and 3 and was suggested in patient 1. Age at the moment of diagnosis oscillated between 7 and 18 years. The three cases showed weight and height percentiles under p 3. Congenital bilateral cataract and search nystagmus were found in all of them. Profound mental retardation, muscular hypotonicity and diminished or absent tendon reflexes constituted distinctive findings in the neurological area. Among renal manifestations stood out proteinuria, generalized hyperaminoaciduria and tubular renal acidosis, they carried from rickets and growth failure. Cases 1 and 2 has characteristic facies. Patient 1 died after series of recurrent bronchial and pulmonary infections: death happened during Fanconi's syndrome evolution. Cases 2 and 3 are in a stabilized period, with a longer life expectation, although they suffer from residual moderate renal failure.
Related Concept Videos
Glaucoma: Overview
Photoreceptors and Visual Pathways
Cerebral Edema ll: Pathophysiology

