- Timeline.
| Date | Summary from the initial and follow up visits | Diagnostic testing | intervention |
|---|---|---|---|
| 9/2015 | 19 months old presented with hepatomegaly to the general pediatric clinic | Viral hepatitis screen was negative Liver enzymes were elevated | given appointment after 3 months |
| 12/2015 | Reevaluated in the general pediatric clinic, still with mild hepatomegaly | The liver enzymes mildly increased | Follow up |
| 2/2016 | Seen in the gastroenterology clinic, hepatomegaly was persistent | The liver enzymes mildly increased | Follow up |
| 12/2017 | Assessed in the metabolic clinic, metabolic profile requested The liver was enlarged | Whole exome sequencing WES | Follow up |
| 3/2018 | Reassessed in the metabolic clinic, more hepatomegaly, new symptoms of myopathy | WES: RBCK1 gene variant | Family segregation analysis Physical therapy Family counseling |
| 5/2018 | Hepatomegaly and fatigue with exertion | The gene variant was Segregating well | Physical therapy |
| 12/2020 | Hepatomegaly and more fatigue with exertion | Liver enzymes were high, the latest reference ALT= 51 H (5 - 33 U/L) AST=48 H (5 - 32 U/L) | Physical therapy |