ICNC Abstracts, ICNC 2018

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Preempting complications in genetic disorders: Lowe Syndrome a case study
Priyanka Dilip Patil

Last modified: 2018-09-09

Abstract


Introduction: Lowe syndrome is an X linked disorder affecting eyes, nervous system and kidneys, caused by a defect in the phosphatidylinositol metabolism1.

Methods: The index case presented at 2 years of age to the neurology clinic in a tertiary center with a history of epilepsy, developmental delay and failure to thrive. He had an unremarkable birth history with dysmorphic features, hypotonia, umbilical hernia and congenital cataracts. There was an antenatal history of polyhydramnios. On investigation he had a normal karyotype, tandem mass spectrometry and urine organic acids. Magnetic Resonance Imaging of his brain showed Hypomyelination, which was more so posteriorly. Clinical exome sequencing revealed a hemizygous deletion in exon 10 of the OCRL gene. In view of the associated renal involvement he was referred to the Paediatric nephrologist although he was asymptomatic. He was then noted to have low bicarbonate levels with no aminoaciduria and was so started on bicarbonate supplements, after which his weight and overall health improved.

Conclusion: The diagnostic journey in this case, showcases the added benefits of getting a genetic diagnosis in suspected metabolic and genetic disorders, which is more than just the diagnostic value of the test. Here we were able to ameliorate and potentially protect his kidneys even though that was not the primary reason for the family seeking medical attention.

 

 

Ref: Abdalla et al,  HYPERLINK "https://www.ncbi.nlm.nih.gov/pubmed/29226564" \o "American journal of medical genetics. Part A." Am J Med Genet A. 2018 Feb;176(2):460-464


Keywords


Lowe Syndrome

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