Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report

Abstract

Background:
Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron storage. CDA1 is usually diagnosed in children and adolescents but can rarely present in the neonatal period with severe anemia at birth. There are no prior reports of neonatal liver histologic findings of CDA1. We report a case of CDA1 in a newborn presenting with severe anemia, cholestasis and liver failure, where liver biopsy helped confirm the diagnosis.

Case summary:
A term infant, born via emergency Cesarean section, presented with cholestasis, hepatosplenomegaly, multiorgan failure and severe anemia at birth. A prior pregnancy was significant for fetal demise at 35 wk without autopsy or known etiology for the fetal demise. Parents are both healthy and there is no history of consanguinity. On further evaluation, the patient was found to have severe ferritin elevation and pulmonary hypertension. An extensive infectious and metabolic work-up was negative. Salivary gland biopsy was negative for iron deposition. At 2 wk of age, a liver biopsy showed findings consistent with CDA1. A genome rapid sequencing panel revealed novel variants in the CDAN1 gene. The patient's liver dysfunction, cholestasis and organomegaly resolved, however she remains transfusion-dependent.

Conclusion:
We report liver pathology findings of CDA1 with a novel genetic mutation for the first time in a newborn.

Full text

World Journal of
Hepatology
World J Hepatol 2019 May 27; 11(5): 412-488
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W J H World Journal of
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Contents Monthly Volume 11 Number 5 May 27, 2019
REVIEW
412 Roles of hepatic stellate cells in acute liver failure: From the perspective of inflammation and fibrosis
Li J, Zhao YR, Tian Z
421 Hepatitis C virus cure with direct acting antivirals: Clinical, economic, societal and patient value for China
Xie Q, Xuan JW, Tang H, Ye XG, Xu P, Lee IH, Hu SL
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Basic Study
442 Hepatitis C virus antigens enzyme immunoassay for one-step diagnosis of hepatitis C virus coinfection in
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Hu KQ, Cui W, Rouster SD, Sherman KE
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450 Expanding etiology of progressive familial intrahepatic cholestasis
Henkel SA, Squires JH, Ayers M, Ganoza A, Mckiernan P, Squires JE
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464 Carvedilol vs endoscopic variceal ligation for primary and secondary prevention of variceal bleeding:
Systematic review and meta-analysis
Dwinata M, Putera DD, Adda’i MF, Hidayat PN, Hasan I
CASE REPORT
477 Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case
report
Jaramillo C, Ermarth AK, Putnam AR, Deneau M
483 Successful treatment of noncirrhotic portal hypertension with eculizumab in paroxysmal nocturnal
hemoglobinuria: A case report
Alexopoulou A, Mani I, Tiniakos DG, Kontopidou F, Tsironi I, Noutsou M, Pantelidaki H, Dourakis SP
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Contents World Journal of Hepatology
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CASE REPORT
Neonatal cholestasis and hepatosplenomegaly caused by congenital
dyserythropoietic anemia type 1: A case report
Catalina Jaramillo, Anna K Ermarth, Angelica R Putnam, Mark Deneau
ORCID number: Catalina Jaramillo
(0000-0003-0708-8247); Anna K
Ermarth (0000-0003-3688-5624);
Angelica R Putnam
(0000-0003-3983-5024); Mark Deneau
(0000-0003-0459-9404).
Author contributions: Jaramillo C,
Ermarth AK and Deneau M were
the patient’s gastroenterologists,
reviewed the literature and
contributed to manuscript drafting;
Putnam AR reviewed the patient’s
pathology slides, electron
microscopy images and
contributed to manuscript drafting;
All authors were responsible for
the revision of the manuscript for
important intellectual content and
issued final approval for the
version to be submitted.
Informed consent statement:
Verbal informed consent was
obtained from the patient’s mother
for publication of this report and
any accompanying images.
Conflict-of-interest statement: The
authors declare that they have no
conflict of interest.
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The authors have read the CARE
Checklist (2016), and the
manuscript was prepared and
revised according to the CARE
Checklist (2016).
Open-Access: This article is an
open-access article that was
selected by an in-house editor and
fully peer-reviewed by external
reviewers. It is distributed in
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Catalina Jaramillo, Anna K Ermarth, Mark Deneau, Department of Pediatrics, University of Utah,
Salt Lake City, UT 84113, United States
Angelica R Putnam, Department of Pathology, University of Utah, Salt Lake City, UT 84113,
United States
Corresponding author: Mark Deneau, MD, MS, Associate Professor, Department of Pediatrics,
University of Utah, 81 Mario Capecchi Drive, Salt Lake City, UT 84113, United States.
mark.deneau@hsc.utah.edu
Telephone: +1-801-2137664
Abstract
BACKGROUND
Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive
disorder of ineffective erythropoiesis, resulting in increased iron storage. CDA1 is
usually diagnosed in children and adolescents but can rarely present in the
neonatal period with severe anemia at birth. There are no prior reports of
neonatal liver histologic findings of CDA1. We report a case of CDA1 in a
newborn presenting with severe anemia, cholestasis and liver failure, where liver
biopsy helped confirm the diagnosis.
CASE SUMMARY
A term infant, born via emergency Cesarean section, presented with cholestasis,
hepatosplenomegaly, multiorgan failure and severe anemia at birth. A prior
pregnancy was significant for fetal demise at 35 wk without autopsy or known
etiology for the fetal demise. Parents are both healthy and there is no history of
consanguinity. On further evaluation, the patient was found to have severe
ferritin elevation and pulmonary hypertension. An extensive infectious and
metabolic work-up was negative. Salivary gland biopsy was negative for iron
deposition. At 2 wk of age, a liver biopsy showed findings consistent with CDA1.
A genome rapid sequencing panel revealed novel variants in the CDAN1 gene.
The patient’s liver dysfunction, cholestasis and organomegaly resolved, however
she remains transfusion-dependent.
CONCLUSION
We report liver pathology findings of CDA1 with a novel genetic mutation for
the first time in a newborn.
Key words: Congenital dyserythropoietic anemia; Hemochromatosis; Pulmonary
hypertension; Jaundice; Case report
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Manuscript source: Invited
manuscript
Received: March 11, 2019
Peer-review started: March 12, 2019
First decision: April 10, 2019
Revised: April 12, 2019
Accepted: April 19, 2019
Article in press: April 19, 2019
Published online: May 27, 2019
P-Reviewer: Karatza AA
S-Editor: Cui LJ
L-Editor: Filipodia
E-Editor: Zhang YL
©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
Core tip: Congenital dyserythropoietic anemia type 1 (commonly known as CDA1) is an
autosomal recessive disorder of ineffective erythropoiesis, resulting in increased iron
storage. We report a rare case of CDA1 with novel genetic mutations in a newborn
presenting with severe anemia, cholestasis and liver failure. This case highlights how
liver histology helped confirm the diagnosis.
Citation: Jaramillo C, Ermarth AK, Putnam AR, Deneau M. Neonatal cholestasis and
hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.
World J Hepatol 2019; 11(5): 477-482
URL: https://www.wjgnet.com/1948-5182/full/v11/i5/477.htm
DOI: https://dx.doi.org/10.4254/wjh.v11.i5.477
INTRODUCTION
Congenital dyserythropoietic anemia type 1 (CDA1) is an autosomal recessive
disorder of ineffective erythropoiesis, resulting in increased iron storage, and
considered a form of secondary hemochromatosis[1]. Most CDA1 patients have a
mutation in the CDAN1 gene[2]. CDA1 is usually diagnosed in children and
adolescents with moderate to severe macrocytic anemia. However, it can rarely
present in the neonatal period with severe anemia at birth[2]. Additional clinical
findings include hepatosplenomegaly (HSM), jaundice, cholestasis, liver dysfunction,
transient thrombocytopenia and persistent pulmonary hypertension of the newborn[2].
The diagnosis is based on hematologic abnormalities and positive genetic testing[3].
Bone marrow biopsy findings include spongy heterochromatin, enlargement of
nuclear pores and invagination of cytoplasm into the nuclear area[4].
Prior reports have described liver biopsy findings of extramedullary hematopoiesis
and iron accumulation in autopsies and adult patients[5-8]. There have been no prior
reports of neonatal liver histologic findings of CDA1. We report a case of CDA1 in a
newborn presenting with severe anemia, cholestasis and liver failure, where liver
biopsy helped confirm the diagnosis.
CASE PRESENTATION
Chief complaints
This is a former 37 wk and 3 d old female transferred to our institution due to respira-
tory failure.
Birth history
The patient was delivered by emergency Cesarean section due to non-reassuring fetal
heart rate tracings at an outside hospital to a 28-year-old, Caucasian, gravida 4, para 2,
0, 1, 2 with an unremarkable pregnancy. A prior pregnancy was significant for fetal
demise at 35 wk without autopsy or known etiology for the fetal demise. Parents are
both healthy and there is no history of consanguinity. Perinatal laboratory results
included maternal blood type O (+) with negative antibody screen, negative venereal
disease research laboratory, hepatitis B, and human immunodeficiency virus and
rubella. Apgar scores were 7 and 8. Birth weight was 3070 g (21st percentile), length 18
inches (16th percentile), occipital frontal circumference 32.5 cm (3rd percentile).
Physical examination upon admission
At birth, this patient had no facial or limb dimorphism. She was started on
supplemental oxygen due to duskiness 10 min after birth. Subsequently, she required
endotracheal intubation and initiation of inhaled nitric oxide. She was then
transferred to our institution due to respiratory failure on day of life (DOL) 1. On
arrival, she was found to have HSM.
Laboratory examinations
On admission to our institution, she was found to have liver dysfunction with an
International normalized ratio (commonly referred to as INR) of 2.1, total bilirubin of
9 mg/dL, direct bilirubin of 2.1 mg/dL, aspartate aminotransferase 655 U/L and
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alanine aminotransferase 65 U/L. Partial thromboplastin time was within normal
limits, with mildly low fibrinogen and elevated D-dimers. Anemia and
thrombocytopenia were also present. The anemia was present since birth with a
hemoglobin of 7.4 g/dL and hematocrit of 23.7%. Her platelets were initially normal
but soon started to decline, with a nadir of 54 k/μL on DOL 1. She was also found to
have pulmonary hypertension, right ventricular hypertrophy and required high
frequency oscillator ventilation due to hypoxemic respiratory failure.
Additional laboratory work-up included serum ferritin of 40664 ng/mL and
normal soluble interleukin 2 receptor. Initially her gamma-glutamyltransferase
(commonly referred to as GGT) was normal and then peaked at 390 U/L on DOL 25.
Infectious studies included negative herpes simplex virus, Epstein-Barr virus,
cytomegalovirus, adenovirus, parvovirus, enterovirus, echovirus, parechovirus and
human herpesvirus 6 PCR. Multiple blood cultures and urine cultures were also
negative. She also had negative work-up for inborn errors of metabolism: normal
serum plasma amino acids, urine organic acids, ammonia and very long/branched-
chain fatty acids.
Imaging examinations
Imaging studies included an initial echocardiogram on DOL 1, which showed a large
patent ductus arteriosus, small patent foramen ovale and dilated and hypertrophied
right ventricle with suprasystemic pressures. An abdominal ultrasound showed HSM
with minimal ascites, and a liver Doppler was normal.
Further diagnostic work-up
A salivary gland biopsy performed on DOL 5 did not show any evidence of iron
deposition. On DOL 15, a liver biopsy was performed, which showed iron deposition
(Figure 1) and erythroblasts with spongy appearance (Figure 2). Immunohisto-
chemical staining for cytomegalovirus and HSV were negative. A genome rapid
sequencing panel of over 4500 genes was performed (ARUP Laboratories, Salt Lake
City, UT, United States) and revealed novel compound heterozygous variants in
CDAN1, c.2174G>A (p.Arg725Gln) and c.1003C>T (p.Arg335Trp), each variant
inherited from an asymptomatic parent.
FINAL DIAGNOSIS
The final diagnosis of the presented case is CDAN1 resulting from c.2174G>A
(p.Arg725Gln) and c.1003C>T (p.Arg335Trp) mutations.
TREATMENT
The infant remained on broad spectrum antibiotics, antivirals and required multiple
packed red blood cell, fresh frozen plasma and platelet transfusions. She also received
intravenous immunoglobulin. She was weaned off mechanical ventilation on DOL 16
and was discharged from the neonatal intensive care unit (known as the NICU) at
DOL 43.
OUTCOME AND FOLLOW-UP
Her INR normalized by DOL 2. Her ferritin levels remained elevated but were
declining with a level of 4133 ng/mL at NICU discharge. She had improving liver
enzymes, bilirubin and thrombocytopenia throughout her NICU stay. At discharge,
she was on nasal cannula and sildenafil for persistent pulmonary hypertension. By 7
wk of age, her bilirubin had normalized, and by 4 mo of age, her liver enzymes and
GGT had normalized. At her first gastroenterology follow-up 4 wk after discharge,
her organomegaly had resolved. At 1 year of age, her ferritin level had decreased to
1139 ng/mL and had 9.3 mg of iron/g of liver tissue determined by magnetic
resonance hepatic iron quantification, still consistent with iron overload[5]. She
remains transfusion-dependent.
DISCUSSION
CDA1 is a rare disorder of ineffective erythropoiesis that leads to severe anemia[6]. It
has been mainly described in European countries and in the Bedoiun Israeli
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Figure 1
Figure 1 Approximately 10%-15% of the hepatocytes contained iron granules. Iron deposition was identified in
all three zones of the liver.
population[2]. The diagnosis is more commonly suspected in patients presenting with
hematologic abnormalities such as moderate-severe macrocytic anemia (MCV > 90),
inappropriately low reticulocytes for degree of anemia, macrocytosis, elliptocytes and
basophilic stippling on peripheral blood smear, bone marrow aspirate findings of
erythroid hyperplasia with interchromatic bridges on light microscopy and
erythroblasts with spongy appearance of heterochromatin and invaginations of the
nuclear membrane on electron microscopy[3]. Other common findings may include
jaundice, splenomegaly, limb dimorphism, hypoplastic nails and syndactyly[3].
Diagnosis in the newborn period is rare[2]. The patient described above presented
with multiple clinical characteristics previously described in the literature. HSM and
early jaundice are commonly encountered (65% and 53%, respectively). Neonates can
also present with direct hyperbilirubinemia in up to 20% of cases. Thrombocytopenia
has been described as transient, which is consistent with this patient's presentation[2].
Persistent fetal circulation/pulmonary hypertension has also been reported in up to
15% of patients; the reported cases have had pulmonary hypertension without any
underlying cardiopulmonary abnormalities requiring high pressure ventilation[2,7]. It
is also reported that patients who have clinical manifestations of CDA1 in the
neonatal period have severe intrauterine anemia at birth, and there have been cases of
hydrops fetalis[8,9].
In this case, a liver biopsy supported evidence for the diagnosis of CDA1 before
genetic testing was performed, with identification of typical siderosis and
extramedullary hematopoiesis[6,10]. Both of these findings are consistent with prior
adult liver pathology reports. Most recently in 2016, Salihoglu et al[10] reported a case
of CDA1 in an adult in whom a liver biopsy was performed to exclude Wilson’s
disease and was found to have extramedullary hematopoiesis. Another case report
describes a 28-year-old diagnosed with CDA1 with a liver biopsy that showed
massive siderosis and early cirrhosis[6]. Autopsy reports have also been described with
findings of extramedullary hematopoiesis of the liver and spleen[8].
The initial therapeutic modality for this disease is intermittent blood transfusions,
however if patients become transfusion-dependent, there have been cases of
successful treatment with interferon alpha[6,11,12]. Up to 80% of affected neonates
require blood transfusions in the first month of life, with reported transfusion
independence by 4 mo of age in 88% of patients[2]. There are also three reported cases
of bone marrow transplantation in patients resistant to interferon therapy[3,13]. Our
patient is currently receiving intermittent blood transfusions approximately every 4
wk.
From a gastrointestinal and hepatology standpoint, CDA1 patients have a future
risk of gallstones (reported in patients as young as 4 years of age)[4] and secondary
hemochromatosis; the latter develops with age due to increased iron absorption even
in patients who are not chronically transfused[3]. Hence, it is suggested that patients
are periodically monitored (every 3 mo) for iron overload starting at age 10[3].
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Figure 2
Figure 2 Electron microscopy showing erythroblasts with dense heterochromatin and translucent vacuoles.
There is widening of the nuclear pores with invagination of cytoplasm.
CONCLUSION
Liver biopsy can be a helpful tool in the diagnosis of infants with unexplained liver
dysfunction. This case report describes the liver histopathology and electron
microscopy findings of CDA1 caused by a novel genetic mutation in the pediatric age
group. CDA1 is in the differential diagnosis of infants with unexplained anemia,
hyperbilirubinemia and HSM.
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