Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement

Abstract

Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part of their workup during the first four months of life. In eight of nine (89%) patients, serum AFP demonstrated elevated levels. Seven infants displayed marked elevations, ranging from 4 to 300 times the upper limit for age-adjusted norms. In most patients, AFP levels peaked during the initial test and declined over time as cholestasis resolved. We conclude that elevated AFP levels are a common, although non-specific, marker for NPC-associated liver disease. These findings demonstrate the benefit of including AFP levels in the workup of neonatal liver disease, especially if there is accompanied cholestasis and if NPC is suspected.

A Review: Association of Alpha-fetoprotein With Metabolic Syndrome

“…In pediatric and adult oncology, it is used as a tumor marker and in prenatal diagnosis of various congenital malformations such as abdominal wall defects and neural tube defects. (61).…”

Challenges in Communicating a Genetic Diagnosis

“…In this Special Issue, the authors explain the complexity of diagnosing and communicating diagnoses of rare genetic entities, such as Noonan Syndrome, MECP2 duplication syndromes, Nieman-Pick type C disease, Pompe disease, hypohidrotic ectodermal dysplasia, retropharyngeal synovial cell carcinoma, 22q.11.2 deletion syndrome, and Pfeiffer syndrome [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ].…”