1/76. failure to thrive: a case study in comprehensive care.Infants who fail to grow normally may occasionally have a serious organic disease; the majority, however, are suffering from inadequate caloric intake because of a disturbance of the infant-mother relationship. Diagnostic evaluation can usually be brief and institution of therapy often leads to dramatic improvement. This Grand Rounds illustrates the contribution each member of the health-care team can make in solving the immediate problem of failure to thrive and helping provide a wholesome environment for the child's future.- - - - - - - - - - ranking = 1keywords = suffering (Clic here for more details about this article) |
2/76. trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.We present a 7-year-old boy with growth retardation, developmental and mental delay, and minor physical abnormalities. The patient had a male karyotype with duplicated material of unknown origin in the long arm of chromosome 17. The origin of the duplicated material was clarified by fluorescence in situ hybridization. Forward chromosome painting showed that the extra material originated from chromosome 2, which was inserted into 17q25. Further characterization of the aberrant chromosome 17 by microdissection and reverse chromosome painting revealed a duplication of bands 2q35 to q37.1. To our knowledge, no other individual with a duplication of this small segment has been described so far. The clinical findings of 13 cases with isolated trisomy 2q are reviewed in relation to the size of the duplicated region. Functional analysis of the duplicated 2q region suggests that critical loci for visceral and central nervous system development in distal trisomy 2q are proximal to 2q33.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
3/76. A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
4/76. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
5/76. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
6/76. Unbalanced translocation t(15;22) in "severe" prader-willi syndrome.A 13-year-old girl with an unbalanced karyotype 45,XX,-15,der(22)t(15;22)(q13;q13.3) de novo had prader-willi syndrome (PWS), (score 13.5), but with features of mental and physical retardation more severe than usually seen in PWS. The clinical diagnosis of PWS was confirmed by methylation analysis that showed absence of the paternal band. With GTG banding, the cytogenetic breakpoint on chromosome 15q13, with 15q14 intact, encompassed the PWS region, while the breakpoint on 22q was terminal. Investigations with FISH utilised ten different probes/combinations, namely SNRPN/PML, TUPLE1/22q13.3, TUPLE/ARSA, GABRB3, three YAC clones and one cosmid for specific regions within chromosome 15q, painting probes for the long arm of chromosomes 15 and 22 and a pantelomere probe. Deletion of SNRPN,TYAC 9 (at 15q11-12), TYAC19 (at 15q13) and GABRB3 (within the PWS locus), was evident on the derivative (22) chromosome, while TYAC10 (at 15q22), cos15-5 (at 15q22) and PML (15q22) were not deleted. On the der(22), 22q13.3 and ARSA were not deleted, but the most distal non specific pantelomeric probe was deleted. Thus, the severe phenotype could be attributable to deletion on chromosome 15q extending beyond q13 to q14, (further than the usual chromosome 15q deletion (q11-13) in PWS), or be related to loss of the very terminal 22q region (from ARSA to the pantelomere) or be due to genetic factors elsewhere in the genome.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
7/76. How to assess slow growth in the breastfed infant. Birth to 3 months.Pediatricians must monitor early breastfeeding to detect and manage breastfeeding difficulties that lead to slow weight gain and subsequent low milk production. infant growth during the first 3 months of life provides a clear indication of breastfeeding progress. Healthy, breastfed infants lose less than 10% of birth weight and return to birth weight by age 2 weeks. They then gain weight steadily, at a minimum of 20 g per day, from age 2 weeks to 3 months. Any deviation from this pattern is cause for concern and for a thorough evaluation of the breastfeeding process. Evaluation includes history taking and physical examination for the mother and infant. observation of a breastfeeding session by a skilled clinician is crucial. A differential diagnosis is generated, followed by a problem-oriented management plan. Special techniques may be used to assist in complicated situations. Ongoing monitoring is required until weight gain has normalized. In most cases, early intervention can restore promptly infant growth and maternal milk supply. Underlying illness of the infant or mother must be considered if weight gain and milk supply do not respond to the earlier-mentioned interventions as expected. physicians are responsible for knowledge about additional resources and for coordination of breastfeeding care. Pediatricians have a pivotal role in achieving the goals of optimal breastfeeding and appropriate infant growth.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
8/76. Growth failure in the child with inflammatory bowel disease.Once considered rare in pediatric practice, chronic inflammatory bowel disease (IBD) is now being recognized with increasing frequency in children of all ages. In IBD, growth failure may be the only clinical presentation; it is imperative to perform a detailed history and physical examination to search for other systemic and gastrointestinal manifestations of the disease. IBD can have a significant impact on linear growth, weight gain, and bone mineralization, and can cause delays in the onset of puberty. Delays in growth and sexual development can be early indicators of disease activity, and assessment of growth and development should be performed frequently. Nutritional therapy is important not only to correct undernutrition, but also as therapy for IBD. Delayed puberty can have a significant impact on the self-esteem of the adolescent patient and diminish final adult height. Loss of bone mineral density is especially significant during a period in which the majority of bone accretion is expected to occur. These issues present unique problems to the gastroenterologist caring for a child or adolescent with IBD and require specific types of monitoring and interventions.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
9/76. survivors of childhood cancers: implications for obstetric anaesthesia.Treatment of many childhood malignancies involves surgery, radiotherapy and chemotherapy. If the child survives, normal physical development can be impaired and abnormalities with anaesthetic implications may be present. We discuss two women with a range of problems who presented for obstetric anaesthesia, having survived childhood malignancies. Common features included anthracycline cardiotoxicity and short stature. Both patients received incremental spinal anaesthesia in order to titrate the dose of local anaesthetic required to produce an adequate block height and to minimize cardiovascular instability.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
10/76. High risk of malignancy in mosaic variegated aneuploidy syndrome.Fourteen cases of mosaic variegated aneuploidy (MVA) syndrome have been reported in the last 10 years. The phenotype of this rare condition has been quite consistent: severe microcephaly, growth deficiency, mild physical anomalies, and mental retardation. We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. Several syndromes with short stature and severe microcephaly, such as the Seckel and Nijmegen syndromes, comprise hematological findings and chromosome instability. However, chromosome instability was not confirmed in our patient. MVA with hematological findings has not been reported before, but 3 patients of 14 (21%) have developed a malignancy (rhabdomyosarcoma, acute lymphoblastic leukemia, and nephroblastoma). Therefore, we propose that MVA is a condition predisposing to neoplasia.- - - - - - - - - - ranking = 13.953241001505keywords = physical (Clic here for more details about this article) |
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