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]

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]

• Recurrent Pleural Effusion

  pleural 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]

• 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]

• Poor Growth

  growth/short stature; and • Developmental delays or intellectual disability. [secure.ssa.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]

• Respiratory Distress

  Respiratory distress and cardiac involvement, when investigated, were also observed. Cardiomyopathy was detected in Pt1. Pt3 was intubated for respiratory failure at birth. [doi.org]

• Failure to Thrive

  Common symptoms in all four patients included facial dysmorphisms, hypotonia, developmental delay, failure to thrive, liver-spleen-megaly and ascites (Table 1 ). Respiratory distress and cardiac involvement, when investigated, were also observed. [doi.org]

  The newborn developed severe psychomotor delay, showed failure to thrive and had recurrent respiratory infections. [scielo.br]

  […] syndrome Hypoalphalipoproteinemia Hypobetalipoproteinemia Hypotonia with lactic acidemia and hyperammonemia Hypotonia-cystinuria syndrome Hypotonia-cystinuria type 1 syndrome Hypotonia-failure to thrive-microcephaly syndrome Hypoxanthine guanine phosphoribosyltransferase [se-atlas.de]

• Muscle Twitch

  This form is distinguished by difficulty coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and progressive intellectual disability. [ismrd.org]

• Hearing Impairment

  Showing of 18 | 80%-99% of people have these symptoms Abnormal vertebral morphology 0003468 Cherry red spot of the macula 0010729 Coarse facial features Coarse facial appearance 0000280 Corneal opacity 0007957 Hearing impairment Deafness Hearing defect [rarediseases.info.nih.gov]

• Epistaxis

  Despite our best-laid plans, we encountered some difficulty with fiberoptic intubation because of a dysmorphic airway, copious oral secretions (even though IV glycopyrrolate was administered), mild epistaxis, her abnormal thoracic anatomy (barrel chest [journals.lww.com]

• Facial Edema

  Because of concerns regarding facial and airway edema in combination with a difficult airway and cervical immobility, we elected to leave the trachea intubated at the conclusion of surgery. [journals.lww.com]

• Suggestibility

  Both mutations cause frameshifts and result in the synthesis of truncated cathepsin A proteins, which, as suggested by structural modeling, are incapable of dimerization, complex formation, and catalysis. [ncbi.nlm.nih.gov]

  Evidence of Record or the listings suggested to evaluate the claim. [secure.ssa.gov]

• Neonatal Onset

  onset with mental and physical retardation, seizures, visual defects, deafness, gargoyle facies, corneal clouding, and a cherry red spot of the macula. [medical-dictionary.thefreedictionary.com]

• Myoclonus

  The myoclonus subsequently spreads to other body regions. Five years into the disease, she was almost wheelchair bound, and other activities such as eating and speaking were considerably affected. [ri.conicet.gov.ar]

  We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. [ncbi.nlm.nih.gov]

  Characteristic clinical presentation of the juvenile/adult form includes myoclonus, neurological deteroration, ataxia and angiokeratoma. Visceromegaly, such as hepatosplenomegaly, is absent in this form of the disease. [themedicalbiochemistrypage.org]

  The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. [uniprot.org]

• Kidney Failure

  Some infants have an enlarged heart (cardiomegaly); an eye abnormality called a cherry-red spot, which can be identified with an eye examination; and kidney disease that can progress to kidney failure. [ismrd.org]

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]

• Visceromegaly

  The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia. [ncbi.nlm.nih.gov]

  The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. [uniprot.org]

  The early infantile form is associated with hydrops fetalis, visceromegaly, skeletal dysplasia, and early death. [ggc.org]

  The most severe form of galactosialidosis, the early infantile type, results in early onset of edema (may be prenatal); ascites, enlarged internal organs in the abdominal cavity (visceromegaly), and skeletal dysplasia (disproportionately short stature [secure.ssa.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]

Onl treatment is to keep the symptoms under control. [rarediseasesandmedicines.blogspot.com]

Treatment is symptomatic and supportive; for example, taking medication to control seizures. [rarediseases.info.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]

Is there a Treatment for Galactosialidosis? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. [nzord.org.nz]

However homozygous Q49R mutation detected in our case was severe prognosis. [ncbi.nlm.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]

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]

[…] 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]

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]

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]

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]

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]