Effect of clonidine on the height of a child with glycogen storage disease type VI: A 13 year follow-up study

A 9-month-old male was found to have hepatomegaly when he was treated by his doctor for bronchitis. At the age of 2 years and 3 months, glycogen storage disease (GSD) of type VI (GSD VI) was diagnosed in this patient. Despite the recommended diet therapy, his growth was not good, changing under or along the line of ?2.0 SD. At the age of 6 years, oral clonidine therapy (0.15 mg/day, 0.2 mg/m² body surface per day) was started. Six to 10 months after the initiation of clonidine therapy, his height began to increase more than the values for ?2.0 SD and once reached the value for ?1.0 SD at the age of 10 years. His growth rate and bone age increased. Clonidine therapy was continued regularly for 7 years until the age of 13 years, 11 months. At that time his development was normal and his height reached 150.8 cm (–1.34 SD). However, cessation of the treatment at the patient's free will resulted in a reduction of the growth rate at age 15 years 6 months. These observations suggest the effect of clonidine therapy on height. Side effects were not noted during the clonidine therapy. Other clinical and laboratory findings of GSD VI also completely improved during treatment. In conclusion, administration of clonidine could be another treatment modality in children with GSD, not only of type VI but also I and III.     

Unique form of rickets with low serum 25-hydroxyvitamin D in two normally nourished children

We present an unusual type of rickets involving two children: a 2 year old boy and a 15 month old boy, who presented with marked bowing of the lower extremities and bulging of costochondral junctions. Both children had normal growth, with their height and body weight greater than the 50th and 97th percentile for age. Roentgenograms of their extremities showed the typical changes of vitamin D refractory rickets. Serum alkaline phosphatase levels were elevated and serum levels of calcium and phosphate were both within the normal range. No primary cause for the rickets, including nutritional deficiencies, was found in the two patients. Characteristic findings were persistently low serum 25-hydroxyvitamin D (25-OH-D) and normal 1,25-dihydroxyvitamin D (1,25-(OH)2-D). Improvements in clinical and X-ray findings were observed after either oral administration of 1 α-(OH)-D3 (9–15 μg per day) or massive vitamin D2 therapy (600 000 IU single injection). The low serum levels of 25-OH-D did not increase unless massive vitamin D2 therapy was also given. These two cases represent a unique form of rickets that does not meet the criteria for any type of previously known rickets.     

Successful α-interferon therapy in a child with chronic refractory idiopathic thrombocytopenic purpura: A case report

We treated a sixteen month old male with chronic refractory idiopathic thrombocytopenic purpura (ITP) in whom α-interferon (IFN) therapy was effective. He developed ITP which did not respond to various treatments. Six months after admission, we began to treat him with IFN. The patient's platelet count rapidly responded to the therapy and rose above normal range. Serum levels of platelet associated immunoglobulin G (PA-IgG) showed a tendency to decrease with the administration of IFN. After stopping the IFN therapy for a duration of 3 months, the platelet count remained normal. No serious adverse side effects, except transient fever, were observed. From the experience of this case we propose that IFN is one of the therapeutic options for treatment of refractory ITP not only in adults but also in children.     

Thyroxine inversely regulates serum intermediate density lipoprotein levels in children with congenital hypothyroidism

BACKGROUND: Although there have been numerous studies on the effects of thyroid hormones on serum lipid profiles, the effects of thyroxine on intermediate how density lipoprotein (IDL) remain uncertain. In an attempt to clarify, this issue, under conditions with very little influence exerted by sex hormones on serum lipid profiles, we studied the relationship between serum thyroid hormone levels and the proportion of serum IDL fractions in children. METHODS: Nineteen children with congenital hypothyroidism and 13 children with non-thyroid diseases were enrolled in this study. Blood samples were taken to measure serum thyroid stimulating hormone, triiodothyronine, free thyroxine (FT4), total cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and apolipoprotein levels. Lipoprotein fractions, including very low density lipoprotein (VLDL), IDL, low density lipoprotein (LDL) and HDL, were determined by their electrophoretic mobility in a non-denaturing polyacrylamide gel. RESULTS: The proportion of IDL fractions showed a significant inverse correlation with serum FT4 levels and a significant correlation with serum total cholesterol and apolipoprotein B and C-II levels. Serum VLDL, LDL and HDL fractions did not correlate with serum thyroid hormone levels. CONCLUSION: From these results and other studies, we suggest that thyroxine promotes the conversion of IDL into LDL, possibly by its stimulatory effects on hepatic lipase activity.     

Sonographic patterns of radiolucent gall-bladder stones for predicting successful shock-wave lithotripsy

The aim of this study was to examine whether the sonographic patterns of gallstones are useful for predicting the outcome of piezoelectric shock-wave lithotripsy. Pretreatment analysis of gallstones based on our sonographic classification was conducted on 115 patients with radiolucent solitary stones of 10–30 mm in diameter, monitored for at least a year after the first lithotripsy. All stones were categorized as type I with gradual attenuation of echoes: type Ia, the stone echo appears as a full moon, usually accompanied by comet-tail artifacts beyond the stone itself (n= 55); type Ib, the stone echo showing the anterior half of the stone, seen as a half moon (n= 29); and type Ic, the stone echo seen as a crescent (n= 31). The most complete fragmentation, ‘pulverization', was achieved at a significantly higher rate for type Ia (51%) than for type Ib (14%, P < 0.005) and type Ic (7%, P < 0.0001) after significantly fewer shock-waves (vs type Ib, P < 0.01; vs type Ic, P < 0.0001). The rate of complete clearance at 12 months after lithotripsy was significantly greater for type Ia (91%) than for type Ib (62%, P < 0.01) and type Ic (45%, P < 0.0001). Comparison of the sonographic and computed tomography (CT) patterns of stones revealed a close relationship between the two: the vast majority (98%) of type Ia showed the iso- or hypo-dense, and the majority (90%) of type Ic the rimmed. We conclude that the sonographic patterns of radiolucent gallstones appear to provide another parameter for predicting fragmentation and clearance of the stones in lithotripsy treatment, and to be probably alternative to pretreatment CT.