1/20. 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 = complex (Clic here for more details about this article) |
2/20. Lack of short-latency-potentials in the VEP reflects immature extra geniculate visual function in delayed visual maturation (DVM).PURPOSE: To investigate children with delayed visual maturation (DVM) and correlate the electrophysiological findings to visual development. methods: Three children, one from each of the DVM-classification groups, were subjected to routine ophthalmological examinations and electrophysiological examinations: flash visual evoked potential (VEP) and skin electrode electroretinography (ERG). RESULTS: All three children had normal ERGs but initially abnormal VEP-recordings with marked delay of latency or grossly altered VEPs. When visual interest developed with responsive smiling at 4, 4.5 and approximately 12 months of age, a maturation in the VEPs also appeared, with development of a short-latency complex (approximately 70 ms). In the normal neonatal development of the VEP, a negativity at approximately 60-70 ms (N1) emerged at four to six weeks of postnatal life when the child started responsive smiling and showing raised visual interest. According to animal experimental research and human studies, the development of the specific response (the short-latency complex) represents the gradual onset of cortical activity mediated via the specific retino-geniculo-striatal pathway. Thus, when the short-latency complex of the VEP cannot be identified, the visual function is mainly of subcortical origin. Since the VEP developed in the same way in the children with DVM as in normal subjects, the pathophysiological dysfunction and origins of DVM can partly be understood. CONCLUSIONS: The results show that i) children with DVM has a period of visual inattentiveness at a time when normal children show visual interest, ii) the VEP is abnormal in children with DVM at the time of visual inattentiveness, iii) the improvement of vision in DVM can be measured with VEP and iiii) the extra-geniculate system(s) provides for the visual function early neonatally in the normal child and in a prolonged period in the DVM-child as long as the VEPs are abnormal.- - - - - - - - - - ranking = 3keywords = complex (Clic here for more details about this article) |
3/20. Mitochondrial dna depletion in children.The first girl of an unrelated couple was noted to have failure to thrive since age 3 months, generalized hypotonia and weakness, hepatomegaly, hypoglycemia, and lactic acidosis at 4 months. She was found to have severe mitochondrial dna (mtDNA) depletion and respiratory chain complex IV deficiency in both skeletal muscle and liver but without other common mtDNA mutations. Her younger brother developed vomiting at age 3 weeks and was diagnosed as having pyloric stenosis. His skeletal muscle and liver also showed severe mtDNA depletion. He developed generalized weakness and hypotonia, hepatomegaly, and lactic acidosis at age 3 months. Both siblings died of hepatic failure and hemorrhagic complication before 6 months of age. The brother also had chemical pancreatitis, which had not been reported before in mtDNA depletion in children. Severe mtDNA depletion may present with nonspecific symptoms such as vomiting, failure to thrive, and developmental delay; multiorgan involvement such as hepatomegaly, pancreatitis, and myopathy occurs later. Mitochondrial dna depletion should be considered in the differential diagnosis in children with developmental delay or failure to thrive of unknown etiology.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/20. The 4q-Syndrome.The 4q-Syndrome: Here we report four cases of interstitial and terminal deletions of the long arm of chromosome 4. Case 1 is a 16 month old boy with del(4)(q12q21) who has soft dysmorphic features, tetralogy of fallot, and severe developmental delay. Case 2 is a male infant with the same deletion and congenital cardiomyopathy. He suffered severe birth asphyxia and died at the age of 6 months. His father was found to have a complex chromosome 4 rearrangement. Case 3 is a female infant with del(4)(q33) who died of aspiration pneumonia. She was mildly dysmorphic and presented with heart failure and hypercalcaemia. Case 4 is a 8 month old girl who has del(4)(q33) and Pierre-Robin sequence. So far about 70 patients with microscopically visible deletions of chromosome 4q have been described. Although they vary in their phenotypes, they have several features in common. We suggest to use the term 4q-syndrome for all macrodeletions of the long arm of chromosome 4.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/20. Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.Three infants are described who had nemaline rods on muscle biopsy and isolated deficiency of complex I of the respiratory chain on biochemical analysis. They all manifested failure to thrive from birth, and hypotonia and muscle weakness within the first three months of life. Different genetic defects leading to isolated complex I deficiency have been described associated with a variety of morphological changes on muscle biopsy, but rods have not been described. Nemaline rods have been secondary phenomena in a number of conditions, as well as being the primary abnormality in nemaline myopathy. However, the combination of nemaline rods and complex I deficiency is an association not previously reported.- - - - - - - - - - ranking = 7keywords = complex (Clic here for more details about this article) |
6/20. The redefinition of failure to thrive from a case study perspective.Explaining failure to thrive (FTT) in dichotomous terms--organic versus non-organic --no longer applies in the context of modern pediatric nursing. FTT has turned out to be much more multifaceted. One infant's story illustrates the complexities and long-term ramifications of a pediatric feeding disorder and the challenges faced by health care professionals and families in their care. The story illustrates how physiologic, sensorimotor, and behavioral issues can all impact a child's inability to gain weight as expected. With greater understanding, pediatric nurses can appreciate their role as members of a multidisciplinary pediatric feeding disorder team.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
7/20. An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.A patient presenting in the first year of life with feeding difficulties and failure to grow had variable but persistent lactic acidemia noted at age 20 months. Nonspecific nutritional and biochemical therapy was accompanied by improvement in general clinical status, growth, gait, and development. However, she died in a catastrophic illness at the end of the third year of life. Studies in intact fibroblast mitochondria were consistent with an isolated but partial defect in cytochrome c oxidase. On direct assay of this enzyme complex in fibroblast homogenates and mitochondria, activity was much more severely depressed (less than or equal to 8% of control). Her fibroblasts normally synthesized the three cytochrome c oxidase subunits encoded on the mitochondrial genome. These data confirm that this patient had cytochrome c oxidase deficiency and demonstrate significant biochemical heterogeneity, since the results of the intact mitochondrial studies correlate better with her clinical course than do those of the direct enzymatic assays.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/20. Bilateral communicating bronchopulmonary foregut malformations in a child.Communicating bronchopulmonary foregut malformations are rare anomalies. The complex anatomy requires innovative surgical techniques. We report a child with bilateral sequestrations communicating with the lower esophagus. The sequestrations were excised through a single thoracotomy incision and the esophagus was repaired. Postoperatively the child has remained asymptomatic.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/20. Non-neurological manifestations of intracranial tumours: a report of four cases.brain neoplasms are a common cause of childhood morbidity and mortality. Neurological presentations usually result in a relatively early diagnosis and management of the neoplasms. Non neurological manifestations may result in later detection and possibly a higher eventual morbidity and mortality. Hence, the importance of a keen index of suspicion in assessment of cases to detect subtle neurological signs and symptoms. Cranial magnetic resonance imaging has been found to be especially useful in the definition of brain neoplasms. In this paper, four cases with non neurological manifestations are presented (one diencephalic syndrome, one failure to thrive, one precocious puberty and one gastrointestinal symptoms).- - - - - - - - - - ranking = 1.2546765348697keywords = neoplasm (Clic here for more details about this article) |
10/20. munchausen syndrome by proxy presenting as a developmental disability.munchausen syndrome by proxy (MSBP) is a form of child abuse in which a parent falsifies illness in a child by fabricating or producing symptoms and presenting the child for medical care while disclaiming knowledge as to the cause of the problem. This report presents the case history of a child diagnosed with MSBP who was portrayed as having multiple developmental disabilities by her mother. Three elements of the case are noteworthy. The emphasis by the mother on multiple developmental disabilities has not been reported. The complexity of this case is unusual and may reflect the complexity of the mother's psychopathology. The interdisciplinary team evaluation was instrumental in making the diagnosis.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
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