1/6. Multiple neonatal endocrinopathies in McCune-Albright syndrome.Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
2/6. Diencephalic syndrome: a rare and easily overlooked cause of failure to thrive.BACKGROUND: Diencephalic syndrome (DS) is an uncommon cause of failure to thrive in infants and young children. The major manifestations are emaciation, hyperkinesia, and euphoria. Most patients have a tumor in the hypothalamic-optic chiasma region. CASE REPORT: Two children, aged 14 months and 5 years 9 months, who presented with classic features of DS at an onset of 2 and 3 months respectively, were reported. neurologic examination was normal, except for papilledema in the second child. Imaging of the brain showed a suprasellar mass, identified as pilocytic astrocytoma in both cases. The first case was lost to follow up. The latter underwent partial resection of the tumor and received radiotherapy postoperatively. He gradually gained in weight and height. CONCLUSION: DS should be a differential diagnosis in any children with emaciation despite adequate caloric intake and an inappropriately euphoric mood. awareness of this syndrome, careful history taking, general detail as well as neurological examination including fundoscopic examination and appropriated investigations are crucial.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
3/6. Behavioral assessment and management of food refusal in children with cystic fibrosis.Four children with cystic fibrosis, ranging in age from 10 to 40 months, were admitted to a specialized pediatric unit for evaluation and treatment of malnutrition. All were below the fifth percentile for weight despite appropriate pancreatic enzyme replacement and outpatient nutritional counseling. Dietary evaluation revealed oral intake of 48% to 62% of that required for growth. Standardized nursing and psychological assessments of feeding behaviors during meals indicated a low acceptance rate of foods and a high rate of maladaptive feeding behaviors. Treatment consisted of behavioral management using positive reinforcement of food acceptance, extinction of negative behaviors, and parent training. Mean percentage of caloric intake increased from 54% to 92% for the four patients. At long-term follow-up, the patients who continued the program demonstrated substantial and persistent catch-up growth. Behavioral feeding disorders may contribute to failure to thrive in patients with cystic fibrosis and must be considered when growth failure occurs despite correct medical management and apparently mild pulmonary and gastrointestinal involvement.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
4/6. The effect of palatoplasty on airway patency and growth in infants with clefts and failure to thrive.We monitored respiratory patterns, transcutaneous PO2 (tcPO2) and transcutaneous PCO2 (tcPO2) in three infants with clefts and severe failure to thrive. Unexplained dysphagia, muscular weakness and cardiac enlargement were other prominent symptoms. During sleep, repeated obstructive apneas accompanied by significant hypoxemia (tcPO2 less than 6 kPa) were recorded in all infants. Relief of the respiratory obstructions by means of nasopharyngeal intubation led to rapid growth catch-up and disappearance of the cardiac and gastrointestinal symptoms. This improvement in clinical condition was paralleled by an increase in transcutaneous PO2. Palatal closure according to Veau-Wardill-Killner led to a marked decrease in the number of airway obstructions and a significant improvement in blood gas homeostasis. The clinical condition of the infants was equally improved. We suggest that a respiratory investigation should be performed in infants with clefts and poor growth in spite of adequate caloric intake. Early closure of the palate should be considered in infants with signs of a respiratory failure.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
5/6. Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region.BACKGROUND: Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction; its main features are emaciation, despite a normal or slightly diminished caloric intake, and an alert appearance. DS has been almost exclusively described in association with space-occupying lesions of the hypothalamic-optic chiasm region, mainly juvenile pilocytic astrocytoma (JPA). A systematic diagnostic approach, including contrast-enhanced magnetic resonance imaging (MRI) of the child's head, is rapidly expanding our knowledge of this syndrome. methods: The MRI findings for three children affected by DS associated with biopsy-proven JPA, consecutively referred to the Pediatric Neuro-Oncology Program of the Department of pediatrics at the University of Padua between September 1991 and January 1996, are presented in this article. The children were boys, ages 6, 7, and 18 months, respectively. RESULTS: In all three patients, the initial contrast-enhancing MRIs of the head showed evidence of tumor dissemination. This finding prompted a study of the spine, which in turn showed tumor deposits in all three subjects. Among the 43 patients younger than 16 years with low grade astroctyoma who consecutively entered the Neuro-Oncology Program during the study period, these 3 patients were the only ones who had disseminated tumors. CONCLUSIONS: In this study, the hypothesis was formulated that DS and disseminated hypothalamic-optic chiasm JPA tend to be more commonly associated than previously stated. This study suggests that the initial contrast-enhanced MRI of the head of a child affected by DS and hypothalamic JPA must be looked at carefully for evidence of tumor dissemination, and that the spine must also be examined if the findings are positive.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |
6/6. Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis.Two male infants born to consanguineous parents were investigated for feeding difficulties in the 1st month of life. Both were found to have distal renal tubular acidosis (dRTA) with hypercalciuria. nephrocalcinosis was present in the first child but not in the second. Urinary organic acid profile demonstrated an excess of methylmalonic acid (MMA) in both children in the absence of any other organic acid. MMA mutase activity and propionate incorporation were normal. There have been no neurological symptoms in either child. The first child has normal growth and psychomotor development at 4 years. His brother, who also has significant gastrooesophageal reflux, has failed to thrive and currently requires nasogastric feeding and caloric supplements to maintain weight along the 3rd percentile. Urinary and plasma MMA continue to be raised in both cases. The association of increased urinary and plasma MMA and dRTA presenting in the 1st month of life has not previously been reported and may represent a new syndrome of autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = caloric (Clic here for more details about this article) |