...They suspected that Grey had a condition called biliary atresia. He had a ‘Kasai’ where his bile ducts and gallbladder were removed. His bilirubin started to go down to a normal level, but all of a sudden, it started to go up again.
–Chris G.
To help avoid misdiagnosis or a delayed diagnosis, keep the expanded clinical diagnostic criteria top of mind. Clinical features from 3 of the following 7 major affected organ systems must be present when diagnosing ALGS3*†:
HEPATIC
•
Cholestasis
•
Jaundice
•
Hepatomegaly
CARDIAC
•
Pulmonary stenosis
•
Tetralogy of Fallot
FACIAL
•
Prominent forehead
•
Pointed chin
•
Deep-set eyes
OCULAR
•
Posterior embryotoxon
•
Optic disk drusen
SKELETAL
•
Butterfly vertebrae
•
Pathological fractures
RENAL
•
Renal dysplasia
•
Renal tubular acidosis
VASCULAR
•
Intracranial bleeding
•
Central nervous system vascular malformations
Adapted from Ayoub et al. 2020.
*
Absent of molecular diagnosis or family history.
†
These do not represent all possible clinical features.
A battery of tests were done to figure out the issue. After an eye test and liver biopsy, Alagille syndrome was clinically diagnosed. A few months later we received the results of the genetic testing that confirmed it.
