CLINICAL BRIEFS Indian J Pediatr 1990; 57 : 443-450 i

Congenital Leukemia

Tejinder Singh, Daljit Singh, Rajbir Singh Beri and SheilaDas*

Department of Pediatrics and *Hematology, Christian Medical College, Ludhiana

Congenital leukemia is a rare disorder with distinctive diagnostic features. Till date, only 8 cases have been reported in India. 1 The essential diagnostic features include proliferation of immature cells, infiltration of these cells into extra-hematopoietic tis- sues and no evidence of other disease enti- ties including congenital syphilis, erythrob- lastosis fetalis or sepsis of either bacterial or viral cause. 2 Approximately 80% of cases have been classified as acute myelo- cytic leukemia by morphological studies alone -1-7

A case of congenital leukemia onNvhom cytochemical studies were performed, has been reported. In addition, this is possibly the first case of congenital leukemia to be reported, having CNS involvement at the time of presentation.

CASE REPORT

A 24 day old boy was admitted with com- plaints of right-sided convulsions and re- fusal to feed since 4 days. He was born to a 22 year old primigravida at term. No his- tory of maternal drug intake, exposure to radiation or fever was forthcoming. Baby cried immediately after birth and was ex- clusively breast fed.

On examination, he was an average sized baby. There was moderate pallor but no lymphadenopathy, petechae or skin in- filtrates. Anterior fontanel was full and all the sutures were widely separated. Head

circumference was 36 cm. Liver was pal- pable 7 cm below right costal margin and spleen was palpable 6 cm below left costal margin. Neonatal reflexes were sluggish. Fundus and other systems were normal. Testes were not enlarged.

Investigations revealed : l ib 10.9 g/dl; TLC 88,000/ram 3. DLC-L 21%, N 19% and blasts~ 60%; reties 2%, platelets 1,20,000/mm 3. Periphe'tal smear had nu- merous blasts of heterogenous size with a high N/C ratio, immature claromatin and 2-3 prominent nucleoli (Fig. 1). Many ceils had irregular nuclear membrane and a few showed nucle~ clefiing. On cytochemical studies, some cells were PAS positive but all were peroxidase and Sudan B negative. No auer rods were seen. RBCs were microcytic/hypochromic. Bone marrow aspirate also demonstrated 60% blasts with similar characteristics. A lumbar puncture was performed which showed 180 ceils/ mm 3, 40% of which resembled blasts. A C T scan of the skull revealed hyperdense areas which showed slight enhancement with contrast (Fig. 2). These were considered to be either leukemic infiltrates or small hem- orrhages. Both mother and baby had non- reactive VDRL. Urine had no inclusion bodies and ELISA for toxoplasmosis was negative. Blood and CSF cultures were sterile. Coomb's test was negative.

On the basis of these investigations, it was decided to treat this child as ALL-L 2

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444 THE INDIAN JOUR2qAL OF PEDIATRICS Vol. 57, No. 3

Fig 1. Peripheral smear showing blasts with high N/C ratio and prominent nucleoli.

Fig 2. C~F scan showing h~Tmrdense areas with contrast enhancement

CLINICAL BRIEFS. CONGENITAL LEUKEMIA 445

type with CNS involvement. Baby was started on vincristine and

prednisolone along with ampicillin. Two doses of intrathecal methotrexate were also given. Repeat counts one week later re- vealed TLC of 32,000/mm 3 with 2% blasts. Cells in the CSF came down to 10/mm 3. There was no reduction in lever and spleen size. Parents were not willing for further treatment and the baby was discharged against medical advice.

DISCUSSION

The patient described here fulfilled the cri- teria set out in the literature for the diag- nosis of congential leukemia. Proliferation of blast cells was demonstrated. Erythrob- lastosis fetalis, congenital syphilis, intra- uterine infections and bacterial sepsis were ruled out by pertinent laboratory tests.

The complete investigation for accurate classification of a case of acute leukemia includes morphological, cytochemieal and surface marker studies and electorn mi- croscopy in selected cases. Till recently, reported cases of congenital leukemia were based on morphological criteria alone,. Wolk et al 9 reviewed all the cases of con- genital/neonatal leukemia reported till 1974. None of the 92 cases had been stud- ied cytochemically and on morphological criteria 66 had been diagnosed as myelob- lastic and 18 iymphoblastic in origin. Their own case had myelogenous morphology but cytochemical data defined the iym- phoblastic character. It was pointed out that what appears morphologically myelob- lastic may not necessarily be so. In the cases reported in India also, as reviewed by Jadhav et at, t the diagnosis was again based on morphological criteria and in some cases even a bone marrow examination had not been performed.

In the patient described here, the cells mtJ~phologically resembled M 2 blasts but these cells were variably PAS positive with a negative reaction to peroxidase and Su- dan-black. These features, along with ab- sence of auer rods, normal granulocytic se- ries and the rapid hematological response to vincristine and prednisone, support the lymphoblastic origin of cells. Variable PAS positivity may also be seen with some types of myeloblasts s and a negative peroxidase stain at cytoc.hemistry may be positive at the EM level. AML-Ms, which may be as- sociated with negative peroxidase and block positivity with PAS, and early CNS involvement as documented in this case, cannot be ruled out. Reaction with esterase stains could help in differentiation but it is known that even T cell ALL can give a positive reaction. ~~ Electron microsopic and surface marker studies would help in better classification and understanding of such cases presenting early in life.

REFERENCES

1. Jadhav MV, Deshmukh SD, Aggarwal PU. Congenital leukemia. Indian Pediatr 1988; 25 : 101-102.

2. Pierce MI. Leukemia in the newborn in- fant, JPediatr 1959; 54 : 691-707.

3. Haahr J, Halvea AB. Congenital leuke- mia. Acta Pediatr Scand 1971; 60 : 720-723.

4. Bernhard WG, Gore I, Kilby RA. Con- genital leukemia. Blood 1951; 6 : 990- 1001.

5. Kushwaha MRS, Bagchi M, Mehrotra RML. Congenital myeloblastic leukemia. b+dian JPediatr 1977; 44 : 17-19.

6. Mehrotra TN, Mathur KS, Mani PN. Congenital leukemia, btdian J Pediatr 1956; 23 : 290-293.

7. Pal AK, Chopra SK, Mittal PK, Upadhyay RK. Congenital leukemia, bldian J Pediatr 1973; 39 : 206-207.

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Hayhoe FGJ, Cawley JC. Acute leuke- mias-cellular morphology and cyto- chemistry. Clin Hematol 1972; 1 : 49-83. Wolk JA, Stuart MJ, Darey FR, Nelson DA. Congenital and neonatal leukemia- lymphocytic or myelocytic. Amer J Dis

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10. Child 1974; 128 : 864-866. Dacie JV, Lewis SM, Catovsky D. Blood- cell cytochemistry and supplementary techniques. In : Practical Haematology. 6th ed. Edinburgh : Churchill Livingstone, 1984; 96-97.

Vein of Galen Aneurysm

C.K. Sasidharan and P. Sanal Kumar

Departments of PediaMcs attd Neuro Surgery, Medical College, Calicut, Kerala

Aneurysm of vein of Galen are rare. They tend to present in stereotyped patterns de- pending upon the age of the patient. Most often the victim is a neonate or a young in- fant with clinical features of hemodynamic decompensation usually with hydrocepha- lus.

A four days old boy was admitted in the newborn nursery with features of conges- tive cardiac failure. The first and second heart sounds were normal and the third heart sound with gallop rhythm. There was pansystolic murmur of grade II well heard at the apex. X-ray film of chest showed Cfir- diac enlargement. Electro cardiogram was within normal limits. The baby weighed 3250 gm, the head circumference was 35 cm and the length 50 cm. He was treated with digoxin and frusemide and was regu- larly followed up in the high risk neonatol- ogy clinic. During the follow up he recov- ered from congestive cardiac failure and the thii'd heart sound and pansystolic mur- mur disappeared by the 4th month of age. The drugs were discontinued. Nine days later he was readmitted with vomiting and unconsciousness. His head circumference was 44.5 cm with wide open fontanels and

separated cranial sutures. He was getting occasional decerebrate posturing. He had bilateral pyramidal signs. His fundii were normal. Cerebrospinal fluid was within normal limits. Plain X-ray 'of the skull showed sutural separation. He was given acetazolamide 100 mg and phenobarbiton 15 mg daily. Even with this the fontanels remained tense and the head circumfer- ence increased to 46 cm. A C T scan of the head was done which showed a rounded homogenous mass of 5 x 5 cm in the re- gion of the pineal gland (Fig. 1). The poste- rior part of the third ventricle remained obliterated. Anterior part of the third ven- tricle and lateral ventricles showed severe degree of dilatation indicating obstructive hydrocephalus. Provisional diagnosis of vein of galen aneurysm was made which was subsequently confirmed by carotid angiogram (Fig. 2). The angiogram showed the middle cerebral artery as the feeding vessel. Ventriculoperitoneal shunt surgery was undertaken in this patient as the par- ents were not willing for the corrective pro- cedures. The boy was later on followed up twice and the head circumference is re- corded 40 cm. No cranial bruit was heard