1/98. Postoperative mycobacterium avium osteomyelitis confirmed by polymerase chain reaction.An 18-year-old male with Escobar syndrome developed mycobacterium avium osteomyelitis after corrective osteotomy. After three surgical interventions the infection reappeared a fourth time. Repeated attempts at microbiological diagnosis of the granulomatous lesions by microscopy and culture for conventional bacteria and Mycobacteria did not reveal any organism. The diagnosis of mycobacterium avium finally was achieved by polymerase chain reaction. Extensive immunological work-up did not reveal signs of immunodeficiency. The patient was treated successfully by a combined surgical and chemotherapeutic approach consisting of clarithromycin, ethambutol and ciprofloxacin. CONCLUSION: polymerase chain reaction may be especially useful for clinical situations with a low bacterial load, especially for fastidious and slow growing pathogens like Mycobacteria. In our patient a combination of surgical therapy with a triple regimen containing clarithromycin proved successful for treatment of a localised infection with M. avium in a supposedly immunocompetent host.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/98. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/98. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.Aromatic L-amino acid decarboxylase (AADC) deficiency results in an impaired synthesis of catecholamines and serotonin, and has been reported only in two middle eastern families. We report on a European family with an affected child. The child showed the characteristic clinical picture of an extrapyramidal movement disorder, oculogyric crises and vegetative symptoms seen in the three patients described previously. Treatment with a combination of the AADC cofactor pyridoxine, the monoamine oxidase B inhibitor selegiline and bromocriptine was started during the fifth year of life and showed only a moderate clinical improvement in contrast to patients who have been treated since the first year of life.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
4/98. glucose-6-phosphate dehydrogenase deficiency-induced hemolysis in newly diagnosed diabetic monozygotic twins.A pair of monozygotic male twins are described who manifested hemolysis at the concurrent onset of diabetes type 1. hemolysis appeared progressively following the correction of hyperglycemia and ketoacidosis (one twin). It was found to be related to unknown glucose 6-phosphate dehydrogenase (G-6-PD) deficiency. Other causes of hemolysis such as drugs or bacterial infection were excluded. The fall in glucose availability after the correction of hyperglycemia is proposed as a possible explanation for hemolysis.- - - - - - - - - - ranking = 110.80829771948keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
5/98. Neonatal intestinal perforation caused by congenital defect of the small intestinal musculature: report of one case.Congenital defect of the small intestinal musculature is a rare cause of neonatal spontaneous intestinal obstruction or perforation. Its etiology and pathogenesis are still controversial. A male infant presented with intestinal obstruction at two days of age and rapidly progressed to perforation and septic shock. He died at seven days of age. autopsy finding revealed a perforation hole at twenty-five cm proximal to ileocecal valve. histology examination demonstrates multifocal deficiency of the inner circular muscle layer three cm around the perforation site. The clinical and histological characteristics are reviewed and discussed. We propose that the muscle defect of small intestine, especially ileum, is secondary to ischemic injury rather than an embryological malformation.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/98. Prune-belly syndrome: therapeutic options including in utero placement of a vesicoamniotic shunt.The prune-belly syndrome (PBS) consists of abdominal wall distention with deficiency of the abdominal wall musculature, urinary tract abnormalities, and cryptorchidism. The impaired drainage of the bladder leads to oligohydramnios and pulmonary hypoplasia. We present 4 cases of PBS diagnosed by prenatal sonography. In 2 cases, vesicoamniotic shunt therapy was not indicated because of a poor prognosis based on sonographic and laboratory findings; the pregnancies were terminated. In another case, treatment was not performed because of a twin pregnancy, and the neonate with PBS died the day of delivery by cesarean section at 31 weeks' menstrual age. In the other case, vesicoamniotic shunt therapy was successfully performed, and a healthy child was delivered. Several conditions must be met for vesicoamniotic shunt therapy to have a good chance of success: the karyotype must be normal, other malformations must be excluded by careful sonographic examination, and renal function must be normal, as determined by serial analyses of fetal urine. Generally, the shunt should be inserted as early as possible.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/98. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
8/98. Parietal pseudofracture and spontaneous intracranial hemorrhage suggesting nonaccidental trauma: report of 2 cases.Massive intracranial hemorrhage, no history of trauma and radiographic findings that were initially interpreted as linear parietal fractures raised the possibility of nonaccidental trauma in 2 infants. Both had severe coagulopathy, 1 due to hemorrhagic disease of the newborn (vitamin k deficiency) and the other due to disseminated herpes simplex virus infection. Both infants died. At autopsy, the parietal bone abnormalities were not fractures, but proved to be an anomalous suture in 1 and a connective tissue fissure in the other.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/98. Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.We studied a recessive hereditary spherocytosis (HS) family from norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband. Molecular analysis demonstrated that all affected children had inherited the low expression alpha-Sp allele LEPRA (Low Expressed PRAgue) from the father. Haplotyping with a polymorphic dinucleotide repeat for the alpha-Sp gene (alphaVNTR) located in the 3' untranslated region of mRNA showed that all recessive children had inherited the same maternal alpha-spectrin allele. The paternal Sp-alphaLEPRA allele was found in cis of the polymorphic alpha-Sp Bughill allele (alphaBH) characterized by the A970D point mutation in the Sp alpha-chain. This mutation was identified on two-dimensional electrophoresis of Sp tryptic digests as an acidic shift of the alphaII tryptic domains (spots alphaIIa). Analyses of the relative expression of the paternal alpha-Sp Bughill polymorphism in the proband showed that the product of the maternal alpha-Sp gene is almost completely absent from the mature erythrocyte membrane. Comparative analysis between alphaVNTR PCR-amplified from genomic dna and from cDNA showed that the maternal low expression alpha-Sp allele is associated with a decreased amount of mRNA. Results from molecular and biochemical studies showed that all the affected children of this family are compound heterozygous for two different low expression alpha-Sp alleles: an uncharacterized defective alpha-Sp allele on the maternal side and an alphaLEPRA allele tagged by the alphaIIa polymorphism on the paternal side.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/98. interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis.Two siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency but different clinical phenotypes were studied. Both are homozygous for an IL12RB1 missense mutation that prevents receptor expression and abolishes cellular responses to IL-12. transfection of the patients' T cells with wild-type IL12RB1 restored IL-12Rbeta1 expression and function. One patient had the expected phenotype of disseminated bacille Calmette-Guerin (BCG) infection in early childhood, whereas the other did not develop BCG infection, despite 3 inoculations with live BCG. Abdominal tuberculosis was diagnosed in this second patient at age 18 years. To date, neither of them has had clinical disease caused by environmental mycobacteria. These observations show unexpected interfamilial and intrafamilial heterogeneity of the clinical phenotype associated with IL-12Rbeta1 deficiency. The patients may be resistant to BCG but remain vulnerable to mycobacterium tuberculosis. A diagnosis of IL-12Rbeta1 deficiency should therefore be considered in selected patients with severe tuberculosis, despite their resistance to BCG and a lack of atypical mycobacteriosis.- - - - - - - - - - ranking = 7keywords = deficiency (Clic here for more details about this article) |
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