Congenital systemic Langerhans cell histiocytosis presenting as hydrops fetalis

Abstract

Congenital Langerhans cell histiocytosis (LCH) encompasses a wide spectrum of disease involvement and severity. Congenital “self‐healing” cutaneous LCH represents one end of the spectrum, whereas the case we encountered represents the other extreme. A rare case of congenital LCH with severe multiorgan involvement presenting as hydrops fetalis is described in this report. Hydrops fetalis has not previously been associated with congenital LCH. The overall clinical features of this infant closely mimicked those of disseminated congenital infection, and he ran a fulminant and rapidly fatal course. Conclusion: A high index of suspicion is required to diagnose congenital LCH in the early neonatal period. Hydrops fetalis is an ominous sign and probably reflects severe systemic disease compromising the well‐being of the fetus.

Congenital Langerhans Cell Histiocytosis with Placental Involvement

“…Multisystem LCH typically has a poor prognosis with a fulminant disease course. Congenital presentations of LCH are exceedingly rare and can mimic more common entities, such as sepsis, neuroblastoma, and leukemia cutis, which may delay both recognition and appropriate treatment [3][4][5][6][7][8]. In cases of congenital LCH, the placenta is likely to be the 1st fetal tissue examined histologically and may provide the 1st diagnostic evidence of disease.…”

Disseminated Langerhans Cell Histiocytosis Presenting as Cholestatic Jaundice

“…However, LCH can present with earliest features of liver dysfunction; as LCH infiltrates have an affinity for bile ducts causing cholestasis and increased GGT, ALP [10] and bilirubin. Authors of previous studies have reported jaundice in case of LCH in association with hydrops fetalis [11] in a congenital systemic Langerhan cell histiocytosis variant causing excessive hemolysis, hyperbilirubinemia, hypoalbuminemia and failure to thrive in a neonate; as reported by Boccon-Gibod et al, [12]. LCH may also be associated with liver dysfunction with a radiologic appearance of sclerosing cholangitis due to cholangiopathy and stone in the common bile duct causing obstructive jaundice [13].…”

Langerhans cell histiocytosis: Presentation in a preterm neonate

“…Prematurity, RO involvement, earlier symptom onset, and respiratory failure are other factors associated with increased mortality. 7 , 13 Survivors must be monitored for long‐term sequelae. Endocrine, orthopedic, and auditory deficits are most common, while permanent neurologic, pulmonary, or hepatic involvement results in increased morbidity.…”

“… 6 Disease in premature infants is rare, with only case reports published; presentation and prognosis vary significantly. 3 , 7 , 8 , 9 , 10 …”