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]

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]

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

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]

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]

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]

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

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]

[…] 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]

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]

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]