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Pyloric Stenosis — UKMLA MCQ

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HardPaediatricsPyloric StenosisUKMLAMRCGP AKTPARAMRCP Part 1

A 44-year-old from a family with autosomal-dominant adult-onset chorea and dystonia has low serum ferritin and MRI susceptibility throughout the basal ganglia. Which molecular finding best establishes neuroferritinopathy?

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Correct answer: A — A heterozygous pathogenic coding-region FTL variant

The best answer is “A heterozygous pathogenic coding-region FTL variant”. Neuroferritinopathy is caused by heterozygous pathogenic variants in the coding region of FTL, most often frameshift variants altering the ferritin-light-chain C terminus. Autosomal-dominant inheritance, an adult progressive movement disorder, low or normal serum ferritin and widespread basal-ganglia iron form the characteristic combination. CP causes recessive aceruloplasminaemia, while PANK2 and PLA2G6 cause other recessive NBIA syndromes and C9orf72 does not produce this iron-storage phenotype.

Reference: Neuroferritinopathy — GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1141/