Ashok Shende

Pulmonary blastoma. Report of two cases in children.

Pulmonary blastoma is a rare tumor of the lung. Although it has been stated that this is predominantly a tumor of adults, a review of the 42 cases published to date reveals that it is a disease which occurs with some frequency in children. The tumor is relatively benign compared to pulmonary carcinosarcoma. Of the eight cases previously described in children, three are known to have survived and to be free of disease 10 months, 3 and 8 years after surgical resection. We report two additional cases of pulmonary blastoma in children followed for 34 and 26 months without any evidence of recurrence or metastases.

The molecular basis of severe hemophilia B in a girl

Severe phenotypic expression of recessive X-linked disorders in females is rare, although examples have been reported. Cases have been documented in females who were homozygous for a recessive alle...

Transient myeloproliferative disorder in neonates with and without Down syndrome: a tale of 2 syndromes.

Transient myeloproliferative disorder (TMD) in newborns with Down syndrome (DS) has been well described. We report 4 newborns, 2 with DS and 2 without DS, who developed TMD. One newborn with DS developed multiorgan failure and died despite treatment with low-dose cytarabine. In 3 newborns, the TMD resolved spontaneously. Two of these patients, 1 with and 1 without DS developed leukemia on subsequent follow-up and were treated successfully. We reviewed the clinical and laboratory data on 14 non-DS infants with TMD reported in the literature. According to limited data, these patients are more likely to develop leukemia than DS patients, however their outcome is better.

Thrombocytopenia Absent Corpus Callosum Syndrome: Third Case of a Distinct Clinical Entity

Thrombocytopenia absent corpus callosum, characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girl with agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compared with other conditions characterized by congenital non-immune thrombocytopenia.

Acute myeloblastic leukemia presenting with diabetes insipidus.

Diabetes insipidus as the presenting manifestation of acute myeloblastic leukemia in a nine-year-old female is reported. In patients with recent onset of diabetes insipidus an underlying leukemic process should be excluded as an etiologic factor.

Persistent chromosome damage induced by localized radiotherapy for lymphoma

A fibroblast culture was established from a lymph node biopsy of a patient with non-Hodgkin lymphoma, 9 months after chemotherapy and intensive therapeutic x-irradiation of the area. In contrast with blood and bone marrow, which were chromosomally normal, all cells of the lymph node were chromosomally abnormal, with numerous clones having multiple structural abnormalities. Numerical abnormalities (trisomies and monosomies) were not found. Structural abnormalities included translocations, terminal deletions, and pericentric inversions, with an excess of centromeric breakpoints being the only apparent deviation from a random distribution of breakpoints. None of the rearrangements associated with malignant lymphoma were seen, indicating that the chromosome abnormalities in the lymph stroma were radiation-associated, not disease-associated. These acquired changes may be a cause of additional malignant transformation.

920 PLASMA PROTEIN C LEVELS IN PATIENTS WITH SICKLE CELL DISEASE (SCD)

Vitamin-K=dependent protein C (PC) functions as a potent anticoagulant. Thrombo-embolism has been reported in kindreds with congenitally low PC levels suggesting that PC has an important role in hemostasis and that even a moderate reduction in this plasma protein may be associated with increased risk of thrombosis. Since thrombotic phenomena have important robs in the vaso-occlusive manifestations in SCD, PC was determined in 32 SCD during steady state and in controls (C).The SCD had significantly lower PC levels as compared to controls. Six SCD were also studied during vaso-occlusive crisis (VOC). During VOC there was marked decrease in PC as compared to levels during steady state (49.5 ± 6.4 and 66.1 ± 10.0, respectively. P < 0.01). Decreased levels of PC during VOC increased to initial levels or higher with clinical improvement. It is postulated that the decreased levels of PC in SCD are probably secondary to increased consumption as well as decreased production because of altered liver functions. This data suggests that decreased levels of PC may increase the risk of thrombosis in these patients.

HEAD TRAUMA IN CHILDREN WITH HEMOPHILIA

Central nervous system bleeding is the main cause of death in hemophilia accounting for 34% of all deaths. Between January 1981 and December 1983, 26 children with hemophilia ranging in age from 1 to 17 years (mean of 7.5 ± 4.5) had 67 hospital admissions for head trauma. Eighteen had Factor VIII, seven Factor IX deficiency and one Von Willebrands Disease. Of the 26 children, 17 had severe hemophilia and 2 had Factor VIII inhibitors. All patients had scalp hematoma; 3 had lacerations at the site of the hematoma; 1 had severe cerebral concussion; 3 had a history of possible loss of consciousness; 12 had headache; 1 had vomiting and 4 had dizziness on admission. All patients received factor replacement therapy within 12 hours of trauma and factor levels were maintained over 50% for 2 to 9 days (mean 2.7 ± 1.1) and all recovered without sequelae. Eightteen patients had skull x-rays on 38 occasions, all of which were negative. Six patients had EEGs, all of which were normal. Of 20 patients who had CT scans on 25 occasions, all were negative. Hemophilia patients treated with adequate factor replacement following head trauma have an excellent prognosis and in the absence of persistent neurological signs or symptoms probably do not require CT examination.

THE USE OF PARTIAL EXCHANGE TRANSFUSION (ETX) IN CHILDREN WITH SERIOUS COMPLICATIONS OF SICKLE CELL ANEMIA (SS)

Six children from 2 to 13 years of age with SS were treated with ETX for the following serious complications: pneumococcal sepsis and meningitis, hepatic crisis, severe hepatic dysfunction before cholecystectomy, SS lung syndrome, SS lung syndrome and congestive heart failure and refractory painful crisis. Hemoglobin S ranged from 64.6 to 100% with a mean of 86.7% pre-ETX compared to 21 to 33% with a mean of 27.6% post-exchange. Relief of symptoms and improvement in the functions of affected organs were observed in all patients following ETX. In the hepatic crisis the total bllirubin level of 28.5 mg/dl (15.0 mg/dl direct) prior to ETX decreased to 6.9 mg/dl (2.4 mg/dl direct). In the SS lung syndrome the PO2 was 40 mm Hg prior to and 99 mm Hg after ETX. Technically the procedure of ETX is easy. ETX effectively removes irreversibly sickled cells, reduces the viscosity of blood and improves the micro-circulation without volume overload which would be the case in simple transfusion. For these reasons ETX merits use in potentially fatal or chronically debilitating complications or in the preparation for surgery in selected cases of SS.

EFFECT OF DIET ON URINARY EXCRETION OF VMA AND HVA IN NEUROBLASTOMA

It has been shown that diet does not affect VMA and HVA excretion in normal children (Weetman, et al: J. Pedlat. 88:46-50, 1976) and this study was designed to determine the effect of diet on urinary excretion of VMA and HVA in children with neuroblastoma.Four patients with neuroblastoma in full remission with no evidence of disease were studied during chemotherapy. Urinary VMA and HVA on a 24 hour specimen were determined on two separate occasions at monthly intervals in each patient while on a regular diet, on 3 days of a diet loaded with and on a diet free from foods known to interfere with VMA and HVA determinations. The mean VMA on a regular, loaded and free diet was 4.57, 4.58 and 4.4 ug/mg creatinine respectively and the HVA was 7.8, 8.0 and 9.5 ug/mg creatinine on these diets respectively. There was no statistically significant difference between the values obtained for urinary VMA and HVA excretion on the three diets. There was a statistically significant difference in excretion of these metabolites in the same patient on the same diet at different periods with wider variations of readings for HVA than for VMA. All the values, however, were within normal range for age. It is concluded that different diets do not significantly alter the urinary excretion of VMA and HVA in children with neuroblastoma in remission.