Table 2

- Timeline.

DateSummary from the initial and follow up visitsDiagnostic testingintervention
9/201519 months old presented with hepatomegaly to the general pediatric clinicViral hepatitis screen was negative Liver enzymes were elevatedgiven appointment after 3 months
12/2015Reevaluated in the general pediatric clinic, still with mild hepatomegalyThe liver enzymes mildly increasedFollow up
2/2016Seen in the gastroenterology clinic, hepatomegaly was persistentThe liver enzymes mildly increasedFollow up
12/2017Assessed in the metabolic clinic, metabolic profile requested The liver was enlargedWhole exome sequencing WESFollow up
3/2018Reassessed in the metabolic clinic, more hepatomegaly, new symptoms of myopathyWES: RBCK1 gene variantFamily segregation analysis Physical therapy Family counseling
5/2018Hepatomegaly and fatigue with exertionThe gene variant was Segregating wellPhysical therapy
12/2020Hepatomegaly and more fatigue with exertionLiver enzymes were high, the latest reference ALT= 51 H (5 - 33 U/L) AST=48 H (5 - 32 U/L)Physical therapy