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Título

ATYPICAL OCULO-CEREBRO-RENAL PRESENTATION - A REPORT CASE OF LOWE’S SYNDROME

RESUMO

CASE PRESENTATION: JJS, male, 10 months old. Born by vaginal delivery, APGAR 9/9, presented significant hypoglycemia and respiratory distress in the ward, and was referred to the ICU, where he stayed hospitalized for 15 days. After ICU discharge, he was admitted to the maternity ward due to frequent regurgitations. During hospitalization, regression of the sucking reflex and global hypotonia were observed, and he was referred to a neuropediatrician for evaluation for SMA investigation, with negative molecular results for neuromuscular diseases. During the multiprofessional evaluation, congenital bilateral cataract and renal tubular acidosis were diagnosed; serologies came back negative. Thus, Lowe’s Syndrome (oculo-cerebro-renal syndrome) was investigated and diagnosed. Patient evolved with neuropsychomotor developmental delay (NPDM), visceromegaly, disphagia, requiring gastrostomy. Neurological examination: pupils punctiform and leukocoria, nystagmus, global hypotonia and preserved cutaneos extension. DISCUSSION: Lowe’s syndrome has an incidence of 1:500,000 live births, being a disease clinically characterized by congenital cataract, renal tubular acidosis and changes in the central nervous system, such as neuromuscular symptoms, intellectual disability, epilepsy and neurodevelopmental delay. Lowe’s is a disease with an X-linked inheritance pattern, and it's associated with mutations in the OCRL gene, a gene involved in multiple intracellular processes involving endocytic trafficking and actin’s skeleton dynamics. Lowe’s Syndrome can be attributed to a de novo variant in about ⅓ of the cases. So far, there is no treatment for this genetic condition, but symptomatic treatment such as cataract surgery and physical therapy can be performed to preserve existing motor function. FINAL COMMENTS: Lowe’s Syndrome is a rare condition, predominantly affecting boys. The present case is compatible for the condition, with expected clinical history and presentation. It is suggested that further investigation with genetic testing be performed and follow-up of this child with therapies and interventions aimed at a better prognosis.

Palavras Chave

Lowe’s Syndrome, oculo-cerebro-renal syndrome, genetics, neuropediatrics.