Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia.

An 8-year-old girl developed ataxia-telangiectasia. Western blotting of lysate revealed absence of the ATM protein, and 2 mutations in the ATM gene were found. Subsequently, the patient developed increased respiratory symptoms. Open lung biopsy revealed lymphocytic interstitial pneumonitis, which is not characteristic of ataxia-telangiectasia. There was a therapeutic response to glucocorticosteroid treatment.

Pulmonary infiltrates with eosinophilia syndromes in children.

Pulmonary infiltrates with eosinophilia (PIE) are a group of heterogeneous disorders having the common findings of lung disease and eosinophilia in the peripheral blood, bronchoalveolar lavage fluid, or pulmonary interstitium. Eleven cases of PIE syndromes were identified through a retrospective and prospective chart review: drug-induced (2), acute eosinophilic pneumonia (3), infant pulmonary eosinophilia (2), parasite-induced (2), Churg-Strauss syndrome (1), and atypical chronic PIE (1). Patient demographics, clinical presentation, and disease severity varied considerably among groups. Therapeutic interventions included bronchodilators (10), oxygen (7), corticosteroids (9), and mechanical ventilation (3). A single patient with acute eosinophilic pneumonia died. Our experience suggests that PIE syndromes are rare in childhood and that clinical presentation can vary widely. Because of the potential for significant morbidity and mortality, aggressive diagnostic evaluations are warranted, particularly in children with respiratory failure of unknown etiology.

Pleuropulmonary blastoma: a marker for familial disease.

OBJECTIVE: To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB). METHODS: Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible. RESULTS: In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations. CONCLUSIONS: The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases.

Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

Misalignment of pulmonary veins with alveolar capillary dysplasia is recognized as a rare cause of persistent pulmonary hypertension of the neonate. Until now, misalignment of pulmonary veins was thought to be a random occurrence, but its appearance in siblings at our institution suggests that there may be a familial predisposition. There have been reports of variable expression and variable severity in this disease; our report describes this variability in family members.

Human milk and the rate of small intestinal mucosal recovery in protracted diarrhea.

STUDY OBJECTIVE: To determine whether human milk accelerates the recovery rate of injured small intestinal mucosa. DESIGN: Randomized, controlled trial. SETTING: County and nonprofit, private urban hospitals. PATIENTS: Moderately to severely malnourished infants less than 6 months of age who required parenteral nutrition for treatment of protracted diarrhea. INTERVENTIONS: Either a human milk preparation (n = 7) or sterile water (n = 9) was administered by continuous nasogastric feeding (14 mL/kg/d) over a 2-week study period while the infants received parenteral nutrition. MEASUREMENTS AND MAIN RESULTS: Small intestine perfusion studies and biopsies were performed at the beginning and end of the study. Age, duration of prior illness, severity of malnutrition, glucose and water absorption, disaccharidase activities, atrophy of villi, and nutritional intake were comparable in both groups of infants. At the end of the 2-week study, improvement toward normal sucrase activity and intraepithelial lymphocytes was found in significantly fewer infants in the milk group than in the water group. No differences were noted in glucose and water absorption or in lactase and maltase activities as a function of the milk versus water treatment. CONCLUSIONS: Human milk did not accelerate functional recovery of the small intestinal mucosa.

PIP: Physicians studied 16 moderately to severely malnourished infants 6 months old who had severe diarrhea for 2 weeks and did not gain weight. After admitting the infants, they administered total parenteral nutrition (TPN) to the infants through a central vein. As the infants began receiving TPN, they were randomly assigned to receive either banked human milk or sterile water by continuous nasogastric feeding for 2 weeks. In addition, before beginning nasogastric feedings and at the conclusion of the study, a physician performed a peroral biopsy of the small intestine. Small intestine perfusion studies were also done in the beginning and at the end of the 2 week period. More infants in the human milk group than in the sterile water group had 25% decrease in sucrase activity (p.02). Researchers noted that the villus/crypt ratio was similar in both groups at the beginning of the study and improved only in the sterile water group (p.002), but this was not a function of treatment. Additionally, more infants in the human milk group had an increase in the intraepithelial lymphocyte count than those in the sterile water group (milk, 5/7; water, 1/8; p.03). On the other hand, the data demonstrate that no differences existed in glucose and water absorption or in lactase and maltase activities as a function of the milk versus water treatment. Therefore, the results of this study suggest that human milk does not benefit small intestine mucosa recovery. Research to determine the effect of predigested formulas or specific factors in fresh human milk on the rate of mucosal recovery is needed.

Severe cardiopathy in branching enzyme deficiency.

A 7 1/2-year-old girl had exercise intolerance and exertional dyspnea. Four months later, congestive heart failure developed, with recurrent chylous pleural effusions, and she died at age 8 1/2 years. Endomyocardial biopsy tissue showed abundant PAS-positive, diastase-resistant cytoplasmic deposits. Similar inclusions were seen in muscle, skin, and liver specimens. Postmortem studies showed that the abnormal polysaccharide was especially abundant in heart and muscle, but was also present in all other tissues, including the central nervous system. Glycogen isolated from heart, muscle, and spinal cord showed a shift of the iodine spectrum toward higher than normal wavelengths. Branching enzyme activity was lacking in the muscle biopsy specimen and in all postmortem tissues; glycogenolytic enzymes had normal activities. These studies show that cardiomyopathy can be the first symptom of generalized branching enzyme deficiency and that the degree of accumulation of the abnormal polysaccharide may vary in different tissues.