Linear growth in homozygous beta-thalassemia and beta-thalassemia/hemoglobin E patients under different treatment regimens.

The effects on linear growth and development among thalassemic patients under different treatment regimens were compared. Twelve homozygous beta-thalassemia (homozygous beta-thal) and 36 beta-thalassemia/Hb E (beta-thal/Hb E) were studied longitudinally between 1977 and 1998. Eighteen cases (10 homozygous beta-thal and 8 beta-thal/Hb E) received hypertransfusion with iron chelation by desferrioxamine. Another 30 cases (2 homozygous beta-thal and 28 beta-thal/Hb E) were given a low transfusion (depending on their clinical requirement). Their heights were measured serially and are presented as a standard deviation score (SDS). There was no significant difference in initial basic hematological data and ferritin levels between either group. However, the hypertransfused group, seemed to be clinically more severely affected than the other group as evidenced by early age at initial transfusion, the early onset of anemia and diagnosis and also their large acquired iron load after a period of transfusion. The average height SDS of the hypertransfused patients was within the 50th percentile +/- 1 SD during the first decade of life in both sexes and both genotypes. Whereas, in patients who were transfused infrequently, the SDS was always below the -1 SD and decreased gradually. In severe beta-thal/Hb E cases, their growth SDS showed no difference from those with homozygous beta-thal. Normal linear growth in those with homozygous beta thal and severe beta-thal/Hb E was only seen in the group that underwent hypertransfusion and this regimen contributed to normal growth during the first ten years of life. However, adequate iron chelation and hormonal treatment in these patients were also required in order to achieve normal adult height.

Ketogenic diet: an alternative treatment for refractory epilepsy in children.

RATIONALE: The aim of this study was to establish the first ketogenic diet treatment program for refractory epilepsy in Thailand and to assess its feasibility as well as its efficacy. METHOD: Children with refractory epilepsy were enrolled in the study. This was a prospective open trial study with 35 children (16 boys and 19 girls). Not all patients started on the diet at the same time. Each patient was cumulatively enrolled in this study over the period of 4 years. The mean age on diet was 5.37 +/- 3.57 years (2 months-13 years), mean age of onset of seizures was 19.2 +/- 27.47 months (1 days-8 years), and an average duration on ketogenic diet was 7.67 months (6 days to 29 months). The classic "4:1" formula ketogenic diet was used with some modification. The patient's parents were allowed to improvise and use any fatty diets available in the market such as coconut milk if needed. Parents were closely supervised and instructed on how to prepare the patient's own meals while in the hospital and continued to attend neurology and nutrition clinics. The seizure outcome and side effects were monitored as well as a daily test for urine ketone. RESULTS: At 1 month, 3 months, 6 months, and 12 months duration on the diet, 90 per cent seizure reductions were achieved in 62.5 per cent, 68.18 per cent, 75 per cent, and 66.67 per cent of patients remaining on the diet, respectively. The number of antiepileptic drugs (AEDs) used by each patient also decreased as a result of better seizure control. CONCLUSION: Ketogenic diet can be tried as a management option for refractory epilepsy. It is not difficult to implement even in a developing country like Thailand where resources are limited. It may also help reduce the cost of treatment especially in view of the high prices of the new AEDs.

Successful prophylaxis of intracranial hemorrhage in infants with severe congenital factor VII deficiency.

During the period 1984-1992, 2 severe cases (1 male, 1 female) of congenital F VII deficiency with intracranial hemorrhage (ICH) were referred to the Department of Pediatrics, Siriraj Hospital Bangkok, Thailand at the ages of 1 and 3 months old. They both responded very well to fresh frozen plasma (FFP) transfusion therapy. Subsequently, both had repeated episodes of ICH (repeated ICH) 5 and 6 times, despite the 10-14 days of replacement therapy for each episode and eventually died at the ages of 11 and 13 months. Since September 1996, another 2 severe cases (2 females) of congenital F VII deficiency who had ICH within their first month of life were referred to us. In order to prevent repeated ICH, we started a prophylactic regime after the second episode of ICH, by giving FFP 10 ml/kg twice a week. The average duration of follow up was 21 months (at 8 and 34 months). All of them (aged 14, and 38 months old) are doing well at this time and free from repeated ICH. From this observation, if there is FFP available, this regime is an effective way to prevent repeated ICH in infants with severe congenital Factor VII deficiency.

Gaucher's disease;thirty-two years experience at Siriraj Hospital.

Gaucher's disease, a lysosomal disorder, is not a common disease in Thailand. During the period 1966-1998 we saw 20 patients with Gaucher's disease at the Department of Pediatrics. Siriraj Hospital. The patients came from different regions of the country but mostly from the central part of Thailand. There were 8 males and 12 females from 13 families of Thai, Thai-Chinese, Thai-Laos and Chinese-Chinese in origin. A history of consanguinity was present in 2 families. The age of onset was 2 months-4 years and the age when they were diagnosed was 4 months-15 years. The most common clinical features included splenomegaly, hepatomegaly, growth retardation, pallor, bleeding disorders and neurological abnormalities. The diagnosis was made by the clinical manifestations, hematologic complications and demonstration of Gaucher cells in the bone marrow and/or other tissues. In one family, the diagnosis was confirmed by evaluation of glucocerebrosidase activities in skin fibroblasts. The management of these patients was symptomatic ie packed red cell and platelet transfusion, splenectomy and other supportive measures. Most patients died of bleeding or infection at an early age.