Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifty consecutive children with cerebellar medulloblastoma were operated on May, 1971 to December, 1988. At 5 and 10-years, actuarial survival rates were respectively 46% & 42%. To determine prognostic factors, various clinical and histological features were analysed: multivariate analysis showed that increased vascularity, coagulative necrosis, and postoperative clinical status have a significant influence survival. When necrosis and/or increased vascularity were present (H+), the 5-year survival rate was 17%, whereas it was 70% when absent (H-) (p less than 0.0001). Postoperative clinical status was described as poor when neurological symptoms such as vigilance or vegetative disorders, akinesia, hypotonia, apragmatism, mutism and emaciation were associated; the 5-year survival rate was 10% in the presence of such deficits (C+) and 55% in their absence (C-) (p = 0.0002). From these results, 2 distinct groups were identified: Group 1: 23 patients without pejorative factors (H- and C-); 5 and 10-year survival rates were 80%. Group 2: 27 patients with one or two pejorative factors (H+ and/or C+); 5 and 10-year survival rates were respectively 18% and 12% (p. less than 0.0001). From our experience, it appears that histology and postoperative clinical status can be early predictors of patient outcome, since neurosurgical and radiation therapy techniques have been largely optimized. These factors could be the basis for developing adapted treatment protocols.
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PMID:[Medulloblastoma in children. Prognostic incidence of vascular hyperplasia, coagulation necrosis and postoperative clinical state on survival]. 160 34

A young boy showed features of Prader-Willi syndrome including hypotonia, cryptorchidism, a mildly dysmorphic facial appearance, a high-arched palate and an open triangular-shaped mouth, but had additional symptoms such as simian creases and multiple joint ankylosis in early infancy. Deletion of the long arm of chromosome 15(q11.2 to q13) was recognized. A muscle biopsy specimen showed variation in fiber size with hypertrophic type 1 fibers, type 2 fiber smallness, type 2B fiber paucity and an increased number of type 2C fibers. At the age of 4 1/2 years, he still showed severe developmental delay with severe muscle hypotonia, weakness and emaciation.
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PMID:Atypical Prader-Willi syndrome with severe developmental delay and emaciation. 245 32

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13; OMIM #615471), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, and persistent lactic acidosis. We report here the case of a Lebanese infant presenting to us with profound neurodevelopmental delays, generalized hypotonia, facial dysmorphic features, and extreme emaciation. Whole-exome sequencing (WES) showed the girl as having MTDPS13 with an underlying FBXL4 missense mutation that has been previously reported only twice in unrelated individuals (c.1303C > T). Comprehensive literature search marked our patient as being the 94th case of MTDPS13 reported to date worldwide, and the first from Lebanon. We include at the end of this report a comprehensive mutation review table of all the pathological FBXL4 mutations reported in the literature, using it to highlight, for the first time, a possible founder effect of Arab origins to the disorder, being most prevalent in patients of Arab descent as shown in our mutation table. Finally, we provide a direct comparison of the disorder's clinical manifestations across two unrelated patients harboring the same disease-causing mutation as our patient, emphasizing the remarkable variability in genotype-to-phenotype correlation characteristic of the disease.
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PMID:FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. 3080 83