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)

A four month-old male infant was noted to have had severe corneal opacity since birth. Buphthalmos, increased intraocular pressure and corneal opacity with neovascularization were noted during physical examination. There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted. There was no evidence of congenital infection by TORCH study. Tests of both urine and plasma amino acids were within normal limits. However, excessive urinary excretion of heparan sulfate was detected by thin-layer chromatography. Corneal transplantation was performed at 6 months old. Histopathological examination of the corneal button showed homogeneous thickening of Bowmen's membrane and intracytoplasmic pinkish substances in corneal stroma. The Alcian blue stain was positive, which was consistent with mucopolysaccharidosis of cornea. The manifestation of this case may be a clinical variant of Sanfilippo's syndrome (Mucopolysaccharidosis type III).
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PMID:Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case. 1091 May 87

We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could not be found. Chromosome analysis revealed a normal male karyotype (46,XY). A more detailed investigation of the patient's genomic DNA by microarray-based comparative genomic hybridization (array CGH) detected an interstitial 3.7 Mb deletion ranging from 15q24.1 to 15q24.3 which was shown to be de novo. Interstitial deletions involving 15q24 are rare. Sharp et al. (Hum Mol Genet 16:567-572, 2007) recently characterized a recurrent 15q24 microdeletion syndrome with breakpoints in regions of segmental duplications. The de novo microdeletion described here colocalizes with the minimal deletion region of the 15q24 microdeletion syndrome. The distinct clinical phenotype associated with this novel microdeletion syndrome is similar to the phenotype of our patient with respect to specific facial features, developmental delay, microcephaly, digital abnormalities, and genital abnormalities in males. We present a genotype-phenotype correlation and comparison with patients from the literature.
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PMID:A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. 1793 88

Mucopolysaccharidoses are group of inherited lysosomal storage disorder. Two siblings of a family manifested behavioral abnormalities; hepatosplenomegaly and hypotonia of infantile onset were found to have a novel homozygous frameshift variation, p.Leu280TrpfsTer19 in NAGLU. This variant was predicted to cause the loss of TIM-barrel and alpha-helical region of NAGLU protein.
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PMID:A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family. 3056 36