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Glycogen storage disease and inflammatory bowel disease
Volume 115 Number 2
measured in milk. We have chosen not to use this approach because there is ample evidence that milk sampling, unless done repeatedly and in steady state, is not useful and does not reflect the amount of drug offered to the suckling infant. Both normal creatinine concentration and normal elimination half-life of atenolol speak against renal failure as the reason for the accumulation of the drug. Gideon Koren, MD The Motherisk Program Division o f Clinical Pharmacology The Hospital for Sick Children, Toronto, Ontario M5G 12(8 Canada
E d i t o r i a l correspondence
337
glycogen storage disease type Ia, in which there is no neutrophil abnormality. Lo'ic de Parscau, MD Irene Maire, PhD Pierre Guibaud, MD Hbpital Debrousse Lyon, France
Rbgis Gonthier, MD Jean Marc Dumollard, MD Hugues Rousset. MD Hbpital Bellevue Saint Etienne, France
Reply Glycogen storage disease and inflammatory bowel disease To the Editor." An inflammatory bowel disease was reported in three children who had glycogen storage disease type Ib (J PEDIATR1986;109:559 and 1987;110:166 [Letter]). The bowel inflammation was thought to be linked with neutrophil abnormalities, typical of this type of glycogen storage disease. We have observed an inflammatory bowel disease associated with a glycogen storage disease type Ia in a 36-year-old woman. The glycogen storage disease was first diagnosed in her brother at the age of 15 years: glucose-6-phosphatase activity was undetectable, whereas phosphorylase and amylo-1, 6-glucosidase were normal in a liver biopsy. The typical features of a glycogen storage disease type I were then recognized in the 12-year-old sister and the same diagnosis was made. The course of the disease was marked by complications such as hyperlipidemia, hyperuricemia with gout crises, hypertension, proteinuria (3 gm/day), and renal failure (glomerular filtration rate 0.5 ml/sec/1.73 m2). The patient had complained of intermittent abdominal pain and diarrhea without weight loss since the age of 33 years. Three years later, she had a severe and relapsing hemorrhage of the gastrointestinal tract, which led to an emergency right hemicolectomy. The erythrocyte sedimentation rate was 100 mm/hr, and the serum albumin concentration was 41 gm/L. In a liver biopsy specimen taken during the operation, glucose-6-phosphatase activity was undetectable even after exposure to a detergent. The histol0gic examination of the ileocecal junction showed a fissuring ulceration and a transmural inflammatory process consisting of noneaseating granulomas with regional lymphatic involvement, consistent with the diagnosis of Crohn disease. Specific causes of inflammatory bowel diseases were ruled out by bacteriologic and serologic studies. The leukocyte count, the chemotactic response, and the chemiluminescence of neutrophils were normal. Four months later, the patient reported only mild intermittent anal bleeding due to hemorrhoids and anal fissures. Colonoscopy showed good cicatrization of the anastomosis and a normal appearance of the mucosa. Even if a coincidence may not be ruled out, this report suggests that an inflammatory bowel disease may also be a complication of
To the Editor." The report by de Parscau et al. of inflammatory bowel disease in a patient with glycogen storage disease type la (glucose6-phosphatase deficiency, without neutrophil dysfunction) is of special interest because it suggests that although inflammatory bowel disease may be associated with glycogen storage disease, the bowel inflammation may not be related to neutrophi! dysfunction. As the authors mention, coincidence remains as a possible explanation, especially in their patient, because inflammatory bowel disease is not rare in the adult population. An alternative hypothesis is that the hepatic enzyme deficiency of either type la and type Ib, or of both, may also involve bowel mucosa cells and lead to inflammation. Additional experience with these diseases is needed to resolve this issue. Thomas F. Roe, MD Professor of Clinical Pediatrics University of Southern California School o f Medicine Head, Division o f Endocrinology and Metabolism Childrens Hospital o f Los Angeles Los Angeles, CA 90027
Myelomeningocele and necrotizing enterocolitis To the Editor: Costello et al. (J PED1ATR1988;113:1041-4) reported an association between myelomeningocele (MMC) and necrotizing enterocolitis (NEC) in a tertiary care hospital. Although the observation is interesting, it is difficult to infer that MMC is a risk factor for NEC among term infants because of the lack of appropriate comparison groups. To evaluate this observation, we analyzed data from the Birth Defects Monitoring Program (BDMP), a nationwide surveillance system based onnewborn hospital discharge diagnoses obtained from the Commission on Professional and Hospital Activities (CPHA) and from the McDonnell Douglas Health Information System (MDHIS). The system covers about 1.3 million births per year in predominantly midsized
measured in milk. We have chosen not to use this approach because there is ample evidence that milk sampling, unless done repeatedly and in steady state, is not useful and does not reflect the amount of drug offered to the suckling infant. Both normal creatinine concentration and normal elimination half-life of atenolol speak against renal failure as the reason for the accumulation of the drug. Gideon Koren, MD The Motherisk Program Division o f Clinical Pharmacology The Hospital for Sick Children, Toronto, Ontario M5G 12(8 Canada
E d i t o r i a l correspondence
337
glycogen storage disease type Ia, in which there is no neutrophil abnormality. Lo'ic de Parscau, MD Irene Maire, PhD Pierre Guibaud, MD Hbpital Debrousse Lyon, France
Rbgis Gonthier, MD Jean Marc Dumollard, MD Hugues Rousset. MD Hbpital Bellevue Saint Etienne, France
Reply Glycogen storage disease and inflammatory bowel disease To the Editor." An inflammatory bowel disease was reported in three children who had glycogen storage disease type Ib (J PEDIATR1986;109:559 and 1987;110:166 [Letter]). The bowel inflammation was thought to be linked with neutrophil abnormalities, typical of this type of glycogen storage disease. We have observed an inflammatory bowel disease associated with a glycogen storage disease type Ia in a 36-year-old woman. The glycogen storage disease was first diagnosed in her brother at the age of 15 years: glucose-6-phosphatase activity was undetectable, whereas phosphorylase and amylo-1, 6-glucosidase were normal in a liver biopsy. The typical features of a glycogen storage disease type I were then recognized in the 12-year-old sister and the same diagnosis was made. The course of the disease was marked by complications such as hyperlipidemia, hyperuricemia with gout crises, hypertension, proteinuria (3 gm/day), and renal failure (glomerular filtration rate 0.5 ml/sec/1.73 m2). The patient had complained of intermittent abdominal pain and diarrhea without weight loss since the age of 33 years. Three years later, she had a severe and relapsing hemorrhage of the gastrointestinal tract, which led to an emergency right hemicolectomy. The erythrocyte sedimentation rate was 100 mm/hr, and the serum albumin concentration was 41 gm/L. In a liver biopsy specimen taken during the operation, glucose-6-phosphatase activity was undetectable even after exposure to a detergent. The histol0gic examination of the ileocecal junction showed a fissuring ulceration and a transmural inflammatory process consisting of noneaseating granulomas with regional lymphatic involvement, consistent with the diagnosis of Crohn disease. Specific causes of inflammatory bowel diseases were ruled out by bacteriologic and serologic studies. The leukocyte count, the chemotactic response, and the chemiluminescence of neutrophils were normal. Four months later, the patient reported only mild intermittent anal bleeding due to hemorrhoids and anal fissures. Colonoscopy showed good cicatrization of the anastomosis and a normal appearance of the mucosa. Even if a coincidence may not be ruled out, this report suggests that an inflammatory bowel disease may also be a complication of
To the Editor." The report by de Parscau et al. of inflammatory bowel disease in a patient with glycogen storage disease type la (glucose6-phosphatase deficiency, without neutrophil dysfunction) is of special interest because it suggests that although inflammatory bowel disease may be associated with glycogen storage disease, the bowel inflammation may not be related to neutrophi! dysfunction. As the authors mention, coincidence remains as a possible explanation, especially in their patient, because inflammatory bowel disease is not rare in the adult population. An alternative hypothesis is that the hepatic enzyme deficiency of either type la and type Ib, or of both, may also involve bowel mucosa cells and lead to inflammation. Additional experience with these diseases is needed to resolve this issue. Thomas F. Roe, MD Professor of Clinical Pediatrics University of Southern California School o f Medicine Head, Division o f Endocrinology and Metabolism Childrens Hospital o f Los Angeles Los Angeles, CA 90027
Myelomeningocele and necrotizing enterocolitis To the Editor: Costello et al. (J PED1ATR1988;113:1041-4) reported an association between myelomeningocele (MMC) and necrotizing enterocolitis (NEC) in a tertiary care hospital. Although the observation is interesting, it is difficult to infer that MMC is a risk factor for NEC among term infants because of the lack of appropriate comparison groups. To evaluate this observation, we analyzed data from the Birth Defects Monitoring Program (BDMP), a nationwide surveillance system based onnewborn hospital discharge diagnoses obtained from the Commission on Professional and Hospital Activities (CPHA) and from the McDonnell Douglas Health Information System (MDHIS). The system covers about 1.3 million births per year in predominantly midsized