Clinical Profile of Leukocyte Adhesion Deficiency Type I.

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited immunodeficiency with defect in the recruitment of leukocyte to the site of inflammation. Patients with severe LAD-I have absent or markedly reduced expression of CD18 and CD11. Here we report clinical profile of 7 cases of LAD-I diagnosed at our center over a period of 3 years. Recurrent skin and mucous membrane infections were the major presenting manifestations. All children had a history of delayed cord separation.

Treatment of aplastic anemia in children with high dose methyl prednisolone.

Severe aplastic anemia (SAA) in children has been previously treated with high dose methyl prednisolone (HDMP) with favorable results. We reviewed our experience with intravenous HDMP. Seven children with a diagnosis of SAA confirmed on bone marrow biopsy were treated with 300 mg/kg total dose of intravenous HDMP over a 4 week period. Patients were closely monitored for response and side effects. HDMP was well tolerated except for hyperglycemia in one case. Six of the seven patients showed no response to HDMP. This observation is in stark contrast with previous trials on use of HDMP in SAA. It is concluded that HDMP should be reserved only for patients with milder bone marrow hypoplasia.

Infected-associated hemophagocytic syndrome.

An epidemic of an infection associated with circulating hemophagocytes (HP) and activated monocytes (AM) was seen in Bombay. Although certain features overlapped with the well-defined entity of virus-associated hemophagocytic syndrome and familial hemophagocytic lymphohistiocytosis, it was distinct enough to place it in a separate category. Affected children were predominantly two days to two years of age. They had fever, altered sensorium, neurological symptoms, dyspnea, and/or diarrhea, and significant bleeding. Laboratory tests showed neutrophilia, AM and HP's in every blood smear, coagulopathy, normal cerebrospinal fluid, normal liver transaminases, hypertriglyceridemia, and hypoalbuminemia. Surgical cases were remarkable in that they had small bowel malformations. These cases were subdivided into four distinct groups based on age of presentation, neonates, infants, children and a surgical group. The clinical differences in each group are described.

Childhood myelodysplasia.

The clinical data and hematological features of 29 children, under the age of 12 years, with primary myelodysplasia are presented. The diagnosis was made using the FAB (French-American-British) Cooperative Group criteria. There were 24 males and 5 females aged 4 months to 12 years (median 2.5 years) with marked male preponderance. Childhood myelodysplasia constituted 16% of all hematological malignancies and 36.7% of acute myeloid leukemias. The median duration of symptoms prior to diagnosis was 3 months. There were 15 cases of refractory anemia, one of refractory anemia with excess blasts, 3 of refractory anemia with excess blasts in transformation and 10 cases of chronic myelomonocytic leukemia. Five patients evolved to acute myeloid and 4 to acute lymphatic leukemia. The median duration of preleukemic phase in these patients was 7 months (range 4-29 months). The overall mean survival was short (5-9 months) in all the subgroups. Besides supportive therapy in most patients, two patients were treated with etoposide, one with alfa interferon 2b and one with high dose methylprednisolone. Our results show that myelodysplasia is not infrequent in children. The disease has an aggressive clinical course and may evolve into acute leukemia.

Endodermal sinus tumor: report of 12 cases.

Twelve cases of endodermal sinus tumor were reviewed. There were 10 females and 2 males with a median age at presentation of 3 years. The primary site was sacrococcygeal in 4 patients, vaginal in 3, retroperitoneal in 2, and testicular, ovarian and left chest wall in one each. The diagnosis rested on histopathological examination and elevation of serum alfa feto protein levels (median 46,200 ng/ml). Two patients had Stage I disease, 9 had Stage III and one had Stage IV disease. Patients were managed by surgery and chemotherapy (BVP regime). All patients on BVP (even those lost at later stages), had achieved clinical remission with the first cycle of treatment.

Congenital factor XIII deficiency.

Clinical and hematological data of 9 cases with factor XIII deficiency is highlighted. The age at first bleed ranged from 3 days of life to 1 year. Seven of these 9 cases had bleeding from the umbilicus, 3 had recurrent subcutaneous and muscle hematomas, while 4 cases had CNS bleeds of which 3 expired. Routine coagulogram was normal, while clot solubility in 5 molar urea solution was abnormal in all cases. Factor XIII assay was not done in any. Patients were treated with plasma transfusion during episodes of bleeding. No patient received plasma transfusion as prophylactic therapy. The cumulative Indian data so far documented, inclusive of this series, shows a very high incidence of CNS bleeds (33%) in patients with this inherited coagulation disorder.