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Galactosialidosis

Goldberg Syndrome


Presentation

  • We present a discussion of and differential diagnosis for this radiographic finding. To the best of our knowledge, this is the first case of early-infantile GS presenting with stippled epiphyses.[ncbi.nlm.nih.gov]
  • Abstract The clinical presentation and laboratory findings in seven patients with neonatal/infantile-onset galactosialidosis are presented.[ncbi.nlm.nih.gov]
  • This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia.[ncbi.nlm.nih.gov]
  • Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.[orpha.net]
Italian
  • Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation.[ncbi.nlm.nih.gov]
  • An Italian founder effect of the c.114delG mutation can be suggested according to the origin of the only three patients carrying this mutation reported here and in the literature.[ncbi.nlm.nih.gov]
Cyanotic Congenital Heart Disease
  • The patient, in addition to the common findings seen in early infantile forms of classical galactosialidosis, displayed an unusual combination of congenital malformations including complex cyanotic congenital heart disease with dextrocardia and situs[ncbi.nlm.nih.gov]
Pleural Effusion
  • After birth she received intensive treatment that led to improvement of edema and pleural effusion, but ascites slowly developed. She died of renal failure on day 207.[ncbi.nlm.nih.gov]
  • effusion and ascites, clubfeet failure to thrive, frequent vomiting, ascites, hypertelorism, thrombocytopenia Alive (age) deceased deceased deceased at 3 m deceased at 4 m, 22d CTSA molecular analysis c.448C   A (p.Val150Met)/c.1216C   T (p.Gln406*)[doi.org]
Progressive Visual Loss
  • From 4 years of age when his vision was first tested, the patient developed progressive visual loss and at the age of 10 years, macular cherry-red spots were found.[ncbi.nlm.nih.gov]
Lordosis
  • At this age, he also had a mild learning disability and clinical examination showed mild facial coarsening, increased lumbar lordosis and pyramidal signs in the legs.[ncbi.nlm.nih.gov]
Hematuria
  • At the age of 30 years, proteinuria and hematuria appeared and the patient underwent a renal biopsy 1 year later.[ncbi.nlm.nih.gov]
  • At the age of 30 years, proteinuria and hematuria appeared and the patient underwent a renal biopsy 1 year later.[doi.org]

Workup

  • A diagnostic workup in an individual with GM1 gangliosidosis, Morquio B, or galactosialidosis typically demonstrates decreased beta-galactosidase enzyme activity in leukocytes or fibroblasts; however, additional testing and consideration of the patientâ[mayomedicallaboratories.com]
Pleural Effusion
  • After birth she received intensive treatment that led to improvement of edema and pleural effusion, but ascites slowly developed. She died of renal failure on day 207.[ncbi.nlm.nih.gov]
  • effusion and ascites, clubfeet failure to thrive, frequent vomiting, ascites, hypertelorism, thrombocytopenia Alive (age) deceased deceased deceased at 3 m deceased at 4 m, 22d CTSA molecular analysis c.448C   A (p.Val150Met)/c.1216C   T (p.Gln406*)[doi.org]

Treatment

  • Treatment is symptomatic and supportive; for example, taking medication to control seizures.[rarediseases.info.nih.gov]
  • Treated mice, monitored for 16 weeks post-treatment, had normal physical appearance and behavior without discernable side effects.[ncbi.nlm.nih.gov]
  • However, in fibroblasts from the second galactosialidosis subject, the amount of the abnormal 72 kDa polypeptide was not influenced by leupeptin treatment.[ncbi.nlm.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • However homozygous Q49R mutation detected in our case was severe prognosis.[ncbi.nlm.nih.gov]
  • Bone marrow transplant is under investigation as an experimental therapy. [4] [5] No conclusive results are currently available regarding the long term benefits of this treatment. [5] Last updated: 5/16/2011 Prognosis depends upon the type of galactosialidosis[rarediseases.info.nih.gov]
  • Prognosis The prognosis for individuals with this disorder varies greatly depending on the specific genetic mutation, which determines the age of onset and severity of the disease.[encyclopedia.com]

Etiology

  • […] clinical diagnostics defines disease diagnosis by a specified spectrum of phenotypic findings; when such parameters are either missing, or other findings not usually observed are seen, the phenotype driven approach to diagnosis may result in a specific etiological[ncbi.nlm.nih.gov]

Epidemiology

  • Nugent AW, Daubeney PE, Chondros P et al. (2003) The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 348:1639–1646 CrossRef PubMed Google Scholar 16.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • The differences and similarities identified in these sialidosis and GS mice may help to better understand the pathophysiology of these diseases in children and to identify more targeted therapies for each of these diseases.[ncbi.nlm.nih.gov]
  • The combined use of immunoprecipitation and immunostaining was useful for analysing the pathophysiology of the intracellular processing and transport of the mutant beta-galactosidase.[ncbi.nlm.nih.gov]
  • Achyuthan, Comparative enzymology, biochemistry and pathophysiology of human exo-α-sialidases (neuraminidases), Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 129, 1, (29), (2001).[doi.org]

Prevention

  • In two EI and one J/A patient, we have identified four novel point mutations (Val104Met, Leu208Pro, Gly411Ser and Ser23Tyr), that prevent phosphorylation and, hence, lysosomal localization and maturation of the mutant precursors.[ncbi.nlm.nih.gov]
  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • الصفحة 396 - Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA (1998): Mutations in filamin 1 prevent migration of cerebral cortical ceurons in human periventricular[books.google.com]
  • In galactosialidosis, toxic materials accumulate within the cells because of an enzyme deficiency that prevents the lysosomes from performing their functions.[raregenomics.org]
  • Other identified mutations prevent the PPCA molecules from folding properly or shorten the PPCA protein so that it cannot form a complex with the other enzymes.[encyclopedia.com]

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