A team of researchers reported the case of a pediatric patient with multiple congenital anomalies who died and was suspected of having Alagille syndrome after an autopsy was conducted, as published in Human Pathology Reports.

Emiogun and colleagues from Nigeria described the case of a female child who was abandoned at approximately 8 months of age. The child became ill, was admitted to the hospital, and died 4 days later.

Autopsy reports revealed that the child was only 60.4 cm in length, which is less than the fifth percentile for an 8-month-old female child, according to World Health Organization standards. The child was moderately jaundiced and was missing an anal canal. She had bony prominences in the lower vertebral area, indicating possible weight loss. 


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“The cardiovascular system revealed truncus arteriosus communis persistence, ventricular septal defect, cardiomegaly with biventricular hypertrophy and pan-valvular dilatation,” Emiogun et al said. “In the gastrointestinal tract, there were imperforate anus and rectovaginal fistula; others were: splenopancreatic fusion anomaly, biliary atresia with cirrhosis, and pancreatic fibrosis.”

Read more about Alagille syndrome epidemiology 

The combination of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities, otherwise known by the medical acronym “VACTERL,” is estimated to occur in 1 in 10,000 to 1 in 40,000 live-born infants. In this patient, her autopsy revealed that she met 2 components of the VACTERL association, which were anal atresia and cardiac anomaly.

“Like the Alagille syndrome, the authors observed in the present case, hepatobiliary anomalies; there was bile ductular proliferation and fibrosis as against bile duct paucity and the absence of fibrosis which is often seen in Alagille,” Emiogun and colleagues wrote.

Alagille syndrome is one of the differential diagnoses in this patient; however, there is a long list of other possible diagnoses as well. The patient’s combination of symptoms is rare, and the absence of a thorough investigation, while the patient was alive, makes the exact diagnosis impossible to determine.

“Neonatologists and pediatricians confronted with such clinical cases should consider investigating the child and parents for chromosomal abnormalities and possible familial links,” they concluded.

Reference

Emiogun EF, Sanni DA, Obafunwa JO. Multiple congenital anomalies: a suspected case of Alagille syndrome variant in a Nigerian child. Hum Pathol. Published online February 9, 2022. doi:10.1016/j.hpr.2022.300594