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]

• 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]

• Mild Clinical Course

  Am J Hum Genet 26 : 563–577. 26 Andria G, Strisciuglio P, Pontarelli G, Sly WS, Dodson WE 1981 Infantile neuraminidase and β-galactosidase deficiencies(galactosialidosis) with mild clinical courses. [dx.doi.org]

  Andria G, Strisciuglio P, Pontarelli G, Sly WS, Dodson WE 1981 Infantile neuraminidase and β-galactosidase deficiencies(galactosialidosis) with mild clinical courses. [nature.com]

• 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]

  […] to thrive-microcephaly syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Idiopathic malabsorption due to bile acid synthesis defects Iminoglycinuria Infantile Krabbe disease [se-atlas.de]

• Gingival Hypertrophy

  Muscular hypotonia, coarse face, broad forehead, hypertelorism, bitateral epicantus, depressed nasal bridge, broad nasal tip, low-set ears, gingival hypertrophy, pectus carinatus, shorth neck, abdomen distention, hepatosplenomegaly, ascites, scrotal edema [omicsonline.org]

  hypertrophy Age at diagnosis 4 m 17 m 1 m post-mortem Psychomotor delay Hypotonia - Course facies Eye lens clouding - - hypopigmentated fundus Hepatosplenomegaly - Cardiac involvement - Skeletal involvement - - Renal involvement - no no no Seizures no [doi.org]

• Muscle Twitch

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

• Myoclonus

  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]

  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]

  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]

• Excitement

  […] substances accumulated in the RGCs and amacrine cells. 4 Lipofuscin granules have been found in the brain and other organs in other diseases with a macular cherry-red spot. 5–7 Lipofuscin is the primary source of retinal autofluorescence detected by 480-nm excitation [healio.com]

  Fluorescence was read after 10 min in a Titertek fluorimeter(excitation 355 nm; emission 460 nm). [dx.doi.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]

• 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 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]

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

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]

[…] 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 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]

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]

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]

In galactosialidosis, toxic materials accumulate within the cells because of an enzyme deficiency that prevents the lysosomes from performing their functions. [raregenomics.org]