Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis

Abstract

Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with hereditary spherocytosis and hemophagocytic hystiocytosis. We think that babies with hydrops fetalis born of consanguineous parents should be examined for hereditary diseases, and that these rare causes should be taken into account in problematic cases.

Evaluating neonatal hyperbilirubinemia in late preterm Hispanic twins led to the diagnosis of hereditary spherocytosis in them, and in their sibling and in their mother

“…6 The delivery was a repeat cesarean section. The birth weights of Twin A and Twin B were 2060 and 1835 g, and Apgar scores were 7 and 9, and 7 and 8, respectively.…”

Hemophagocytic Lymphohistiocytosis in the Premature Neonate

“…[18][19][20][21][22][23][24][25] However, no synthesis of information regarding HLH in premature neonates could be located. The clinical presentation of the premature neonate with HLH may be nonspecific and difficult to identify.…”

“…The clinical presentation of the premature neonate with HLH may be nonspecific and difficult to identify. Of the referenced premature HLH cases, 4 of the 8 cases presented at birth with symptoms related to HLH, 20,21,23,25 while others presented with symptoms between 24 days of life 24 and 2 months of life. 19 Fever has been identified as 1 of the 3 most common symptoms along with cytopenias and hepatosplenomegaly.…”

“…Anemia was also a very common finding, having been addressed in 7 of the 8 case studies. [18][19][20][21][22][23][24][25] Although anemia of prematurity and blood loss due to frequent blood sampling may require the occasional transfusion, the need for frequent transfusions of packed red blood cells are often required with neonatal HLH. Neutropenia was specifically identified in half of the cases.…”

“…[19][20][21]25 Hepatosplenomegaly was 20 Seven of the 8 cases were identified as having hypertriglyceridemia and/or hypofibrinogenemia. [18][19][20][21][22]24,25 Hyperferritinemia was identified in 5 of the 8 cases, 18,19,[21][22][23] with 1 of the cases stating that a ferritin level was never obtained. 25 Malloy et al 21 were the first who described the association between HLH and nonimmune hydrops fetalis.…”