Macrocytosis and pseudoalbinism: manifestations of selenium deficiency.

Selenium levels were low in four children receiving long-term total parenteral nutrition (TPN) who developed erythrocyte macrocytosis (3/4), loss of pigmentation of hair and skin (2/4), elevated transaminase and creatine kinase activities (2/4), and profound muscle weakness (1/4). Initial mean selenium levels in serum and hair were 38 +/- 11 (SEM) ng/mL and 0.34 +/- 0.13 micrograms/g, respectively. Mean serum vitamin B12, folate, and vitamin E levels were normal. Intravenous supplementation with selenium was begun daily at 2 micrograms/kg/day. After 3 to 6 months, serum selenium levels rose almost threefold to 81 +/- 22 ng/mL. During this same time, erythrocyte mean corpuscular volume fell from 115 +/- 8 fL to 88 +/- 7 fL in the three children with macrocytosis. After 6 to 12 months of supplementation, hair selenium content had increased threefold to 1.02 +/- 0.19 micrograms/g. The two children with decreased pigmentation became darker skinned and their hair color changed from blonde to dark brown; a third child's hair, which had been blonde, also became darker. Transaminase and creatine kinase activities returned to near normal in those affected and, in the one child with severe myopathy, muscle weakness improved. Erythrocyte macrocytosis and loss of skin and hair pigmentation are previously undescribed manifestations of selenium deficiency. We recommend routine supplementation of TPN solution with selenium to avoid the clinical and biochemical syndrome of selenium deficiency in patients receiving long-term TPN.

Primary sclerosing cholangitis associated with hyperimmunoglobulin M immunodeficiency (dysgammaglobulinemia).

Primary sclerosing cholangitis is an uncommon disorder of obliterative biliary inflammation that is exceedingly rare in childhood. Presented is a child with hyperimmunoglobulin M immunodeficiency (dysgammaglobulinemia) and primary sclerosing cholangitis. This case should focus attention on the association of primary sclerosing cholangitis and immunodeficiency syndromes, particularly in children with immune disorders and unexplained hepatic abnormalities.

Polle syndrome: chronic diarrhea in Munchausen's child.

A child with a complex history of chronic diarrhea and a seizure disorder, with multiple nondiagnostic previous evaluations, is presented. Under careful observation and with minimal diagnostic studies, the source of this child's chronic disorder was confirmed to be exogenous drug administration by the mother. Polle syndrome, a child-abuse variant of Munchausen syndrome, must be considered as part of an aberrant family social setting by adult or pediatric physicians who uncover a chronic factitious disease. More attention to psychosocial history gathering may preclude well-meaning, but unwarranted, multiple diagnostic endeavors.

Home parenteral nutrition in children with Crohn's disease: an effective management alternative.

Seventeen pediatric patients, ages 9.25--20.5 yr, were placed on a program of home parenteral nutrition (HPN) for severe, symptomatic Crohn's disease. Prior therapy with sulfasalazine in 14, adrenocorticosteroids in 12, inpatient total parenteral nutrition in 7, and/or surgical resections in 6 failed to suppress disease activity. Remission was attained in 12 of the 17 after one course of HPN alone. Four patients had surgical procedures and 1 required steroids in addition to HPN. Remissions have been maintained in 4 of those 12 for a mean duration of 315 days after discontinuation of HPN. Of the 8 who relapsed after a mean duration of 68 days, second courses of HPN were undertaken in 7 and third courses in 2. All 17 had a marked improvement in disease symptoms while receiving HPN in addition to gaining weight sufficient to place them at a higher percentile on standard growth charts. Ten patients demonstrated "catch-up" growth and 4 others increased their height appropriately. A chromium 51-labeled albumin stool collection of greater than 1% in 5 of 7 patients at the completion of a HPN course correlated with relapse within 4 mo. Serial radiographic contrast studies and erythrocyte sedimentation rates were not predictive of prolonged remissions. Home parenteral nutrition complications were minimal, with only one episode of sepsis per 5.8 catheter experience years. It is concluded that HPN is a safe and effective means of inducing remissions and providing optimal nutritional support in pediatric patients with severe Crohn's disease. Patients with less than adequate response to standard medical management should be considered candidates for this therapeutic modality.

Recurrent pulmonary disease in children: a complication of gastroesophageal reflux.

To evaluate the role of gastroesophageal reflux (GER) as a possible cause of recurrent pulmonary disease, 30 children, aged 1 to 18 years, were studied prospectively with esophageal function tests. These included esophagram (30 patients), esophageal manometry (29 patients), pH probe (Tuttle) test (29 patients), and esophagoscopy with esophageal biopsy (23 patients). The patients studied had either chronic asthma or two or more documented pneumonias within a one-year period. Nineteen (63%) had GER based on two or more positive tests. Eighteen had positive Tuttle tests; 13 had abnormal manometry studies; nine had esophagitis on biopsy; six had esophagitis on esophagoscopy; and five had reflux on esophagram. Of those with GER, 17 had a history of nocturnal cough and eight vomited during infancy. Children with recurrent pulmonary disease should have esophageal function testing to exclude GER as the cause.

Home parenteral nutrition: results in 34 pediatric patients.

Although home parenteral nutrition (HPN) has been used successfully for adult patients, no extensive experience with children has been reported. During the past three years, we have managed 34 patients, ages 1 1/2 months to 20 1/2 years, on a HPN program for periods ranging from 23 to 786 days. Silastic Broviac catheters were inserted into the superior vena cava through the jugular or cephalic veins or into the inferior vena cava through the saphenous vein. The catheters were brought out onto the chest or lower abdominal wall through a subcutaneous tunnel. Solutions were infused over a 10--14-hour period each day, using a volumetric pump system. All patients improved their nutritional status. Twenty-three of 29 on the program for more than two months showed an increase in height. All patients evidenced a significant decrease in symptomatology. All resumed per group activities while on HPN and were able to continue their education or work. At present 24 patients including 15 with Crohn's disease no longer receive HPN. Administration of HPN through a Broviac catheter is a safe, successful technique for maintaining an optimal nutritional status in children with severe digestive disorders, and permits resumption of a more normal daily lifestyle. Following HPN, bowel adaptation and initiation of full oral alimentation become possible in many patients.

A zinc-deficiency dermatitis in patients on total parenteral nutrition.

Three patients on home total parenteral nutrition utilizing a synthetic amino acid solutions developed a dermatitis consistent with acrodermatitis enteropathica after 30, 43 and 62 days of therapy. The dermatitis resolved after changing to casein hydrolysate in 2 patients and after full oral alimentation in the third. Although measured serum zinc levels were repeatedly normal to elevated in all patients, sufficient retrospective data analysis combined with literature review on this subject, clearly implicates zinc deficiency as the etiology for their dermatitis. Adequate zinc supplementation of synthetic amino acid solutions is essential in order to avoid this complication.