Barium enema findings in Type I hepatorenal glycogen storage disease

Four children with Type I hepatorenal glycogen storage have been studied by barium enema. All showed strikingly similar changes of a smooth-walled, slightly narrow but normal length colon without any haustration. The findings simulated colitis but the patients had either mild diarrhea or no gastrointestinal complaints. Small bowel series was normal. Endoscopy and biopsy failed to provide an adequate explanation, there being no evidence of glycogen storage in the biopsy material and the degree of colitis in two patients who were endoscoped was minimal. The explanation for these radiographic findings is not known at present, although they have similarities to the “cathartic colon syndrome” described in adults.     

Krabbe disease: unusual MRI findings

We present the MRI findings in a case of infantile-onset Krabbe disease. Enlargement of the intracranial optic nerves and cervical cord were detected in addition to more typical changes in the cerebral white matter and thalami. We also review the proton MR spectroscopic findings in Krabbe disease.     

Renal sonographic findings of type I glycogen storage disease in infancy and early childhood

Background: Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term complication and is reported mainly in older patients. Objective: We report the renal manifestations and renal ultrasonographic findings of GSD-I in infancy and early childhood in order to assess the role of renal sonography in the diagnosis of GSD-I. Materials and methods: We retrospectively reviewed our hospitals database for patients with GSD-I from January 1993 to September 2004. The records of five patients were reviewed for this study. These five patients were diagnosed when they were younger than 3 years old. Data extracted from the charts included the initial extrarenal and renal manifestations, laboratory data, and imaging studies. We analyzed the indications for, and results of, renal sonography. Results: In addition to the clinical presentations and laboratory abnormalities, all five children had nephromegaly and increased echogenicity on ultrasonography on their first visit, although only a minor degree of tubular dysfunction was noted clinically. Three of these five patients had nephrocalcinosis or renal stones or both. Conclusion: Hyperechoic large kidneys, nephrocalcinosis, and renal stones are common in GSD-I. They can be present in early infancy. Abnormalities on renal sonography might suggest GSD-I in a patient with suspected inborn errors of metabolism.     

A case report: Paediatric surfer's myelopathy

Surfer's myelopathy was first described by Thompson et al., in 2004.¹ It is a rare cause of sudden spinal cord injury that occurs in the absence of direct trauma to the spinal area in novice healthy surfers. We present the case of the youngest patient we are aware of to be diagnosed with surfer's myelopathy following actual surfing. A clear aetiology for surfer's myelopathy has not previous been described. However, the hypothesis that there is ischaemia to the lower spinal cord is supported by our case, where we present the first clear angiographic evidence of the occlusion of the great anterior radicular artery of Adamkiewicz in a patient diagnosed with surfer's myelopathy.     

肝糖原累积病研究进展

糖原累积病(glycogen storage disease,GSD)是一种由先天性酶缺陷所导致的糖代谢障碍疾病,主要临床表现为低血糖、肝脾大及生长发育迟缓.糖原合成和分解所需的酶多种多样,由于缺陷的酶不同,GSD的临床表现也各有不同.多数患者经正规治疗可获得正常的生长发育并可生长至成年,但成年期仍可伴有各种并发症,目...     

Biochemical investigations in glycogen storage disease

Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.     

Type I glycogen storage disease: Nine years of management with cornstarch

Long-term effects of cornstarch (CS) therapy on biochemical values and physical growth in children with type I glycogen storage disease (GSD I) were compared to those of children receiving continuous nocturnal nasogastric glucose feedings (CNG). Only patients who had received more than 5 years of dietary therapy (either CS or CNG) were evaluated. Six patients (five female, age 13.5 years±1.3, range 11.7–16.5 years) received CS (1.75–2.5 g/kg, four times daily) and seven patients (five female, age 9.6±2.5 years, range 7.3–14.8 years) received CNG. Blood glucose, lactate, cholesterol and triglyceride levels were not significantly different between the two methods of treatment. All patients maintained linear growth rates normal for their age. The standard deviation score of height after 6.7±1.6 years (range 5–9 years) of CS treatment was –1.29±0.59 and after 8.8±2.4 years (range 7–14 years) of CNG was –1.24±0.63. These values did not differ significantly from each other or from the target height, an estimate of genetic potential for height as determined from parental heights. With the exceptions of diarrhea, increased flatulence and excess weight gain, there were no adverse effects of CS after 9 years of treatment. Our data suggests that cornstarch is a simple, effective and safe therapy for GSD I.     

Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease

A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.