cases

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