A 6 day old newborn presented with fever,pallor,
lethargy, poor suck and mild
hepatosplenomegaly, features suggestive of
sepsis. Septic work up was negative.
Peripheral smear revealed hyperleukocytosis,
thrombocytopenia and presence of
atypical cells. Bone marrow examination
revealed increased myeloblasts
what is the diagnosis/?
DISCUSSION
Congenital
leukemia (CL) is a term applied to
leukaemia
diagnosed at birth or within the first
month of
life.1 It is a rare entity, with reported
incidence
between 4.3 and 8.6 per million
livebirths.2
The criteria for diagnosis of CL are
a) Disease
presentation at or shortly after
birth(<30days),
b) Proliferation of immature
white cells,
c) Infiltration of the cells into extra
hematopoietic
tissues d) Absence of any other
condition
that mimics congenital leukemia.3
Etiological
considerations in CL have included
chromosomal
defects, intrauterine
environmental
insults, viral infections and
exposure to
radiation in pregnancy. CL has also
been reported
in association with Down’s
syndrome,
Turner syndrome, Klippel-Feil
syndrome and
Ellis-van Crevald syndrome.4
Clinical
signs of leukemia may be evident
at birth with
hepatosplenomegaly, petechiae and
ecchymosis.
Twenty five to thirty percent of
infants with
CL have specific cutaneous
infiltrates
(leukemia cutis) which usually
appear as
firm blue or red nodules (‘Blueberry
Muffin’). In
a study of 6 cases of CL, all of
which were
AML, autopsy showed leukemic
infiltrates
in the lungs and other organs.7
A large
proportion of CL are of myeloid
lineage, in
contrast to pediatric leukemias in
general,
which are usually lymphoid in
origin.,
The
differential diagnosis of CL includes
sepsis and
intra uterine infections (TORCH).
Other
possibilities include-hemolytic disease of
the newborn
(HDN) and transient
myeloproliferative
disease (TMD).1,3 Infections
are ruled out
by serology and culture as was
done in the
present case, while in HDN
numerous
erythrocyte precursors are seen in the
peripheral
smear, which was absent in this case.
TMD of the
newborn is seen usually in
association
with Downs syndrome. They often
have
associated transient polycythemia and or
thrombocytosis,
which were not seen in this
case.
Spontaneous resolution of all blood and
bone marrow
abnormalities occurs within 3
months of
onset.
The prognosis
for CL is poor, with only
23% surviving
at 24 months .10,11 However, rare
cases of CL
with spontaneous remission have
been
described, most of which were associated
with Downs´
Syndrome or mosaicism for trisomy
