Visceromegaly: Causes & Reasons

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Possible Causes for Visceromegaly

Beckwith-Wiedemann Syndrome

Most common manifestations are exomphalos, macroglossia, gigantism, and visceromegaly. [ncbi.nlm.nih.gov]

Features characteristic of the BWS phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and [ncbi.nlm.nih.gov]

Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly [ncbi.nlm.nih.gov]

Fucosidosis

[…] phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly [orpha.net]

[…] disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly [ncbi.nlm.nih.gov]

Galactosialidosis

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]

Myoclonus, ataxia, angiokeratoma, cognitive disability, neurologic deterioration, absence of visceromegaly, and long survival are quite characteristic of this subtype. [ommbid.mhmedical.com]

Congenital Macroglossia

: Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. [link.springer.com]

Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus. New Eng. J. Med. 275: 236, Aug. 4, 1966. [journals.sagepub.com]

John Bruce Beckwith in 1969 Essential features Macrosomia Macroglossia Visceromegaly Embryonal neoplasms; mainly Wilms tumor and hepatoblastoma Omphalocele / exomphalos Adrenocortical [pathologyoutlines.com]

GM2 Gangliosidosis

G M1 -gangliosidosis was of a late infantile variety without visceromegaly or skeletal abnormality but with the presence of PAS positive histiocytes in the liver and spleen [jamanetwork.com]

Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay. [orpha.net]

Genee-Wiedemann Syndrome

A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA [profiles.umassmed.edu]

Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects. 1969;5:188–96. Wiedemann HR. [rarediseases.org]

Hyperpituitarism

Acromegaly occurs after epiphyseal closure, causing bone thickening and transverse growth and visceromegaly. [healthguidance.org]

Acromegaly takes place after epiphyseal closure, creating bone thickening and transverse growth and visceromegaly. [pituitarytumors.wordpress.com]

Infantile Malignant Osteopetrosis

[…] reviewing the most relevant diagnostic and therapeutic aspects.Clinical case: A tenmonth-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly [revistaschilenas.uchile.cl]

Clinical case: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. [scielo.cl]

Discussion We are facing an infant with thrombocytopenia, which in the evolution develops bone marrow failure and visceromegaly, associated with skeletal sclerosis. [scielo.cl]

Fucosidosis Type 2

[…] on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly [medlineplus.gov]

Less common findings associated with severe forms of fucosidosis include abnormally enlarged internal organs (visceromegaly), such as the liver and spleen (hepatosplenomegaly [rarediseases.org]

Wiedemann-Opitz Syndrome

M.: Macroglossia, omphalocele, visceromegaly, cytomegaly of the adrenal cortex and neonatal hypoglycemia. Birth Defects Orig. Art. [link.springer.com]

Beckwith JB (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. Birth Defects 5:188–196 Google Scholar 3. [link.springer.com]

Google Scholar | Crossref | Medline | ISI Beckwith JB Macroglossia, omphalocele, adrenal cytomegaly, gigantism and hyperplastic visceromegaly. [journals.sagepub.com]

GM1 Gangliosidosis Type 1

Although visceromegaly is typical of Landing disease, symptoms of malabsorption and hypertension have not been reported in its course. [ncbi.nlm.nih.gov]

Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay. [orpha.net]

Symptoms are often observed around 3 months of age with progressive deterioration occurring between 12 and 18 months of age but visceromegaly, dysmorphisms and cherry-red [themedicalbiochemistrypage.org]

Gangliosidosis

[…] disorders that result from deficient activity of the lysosomal hydrolase, β-galactosidase, and which manifest varying degrees of neurodegeneration, retinal cherry-red spots, and visceromegaly [mayoclinic.pure.elsevier.com]

Clinical signs are variable and include arrest/regression of neurological development, hypotonia, visceromegaly, macular cherry-red spots, dysostosis and coarse facial features [orpha.net]

Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay. [orpha.net]

GM1 Gangliosidosis Type 2

Details First-Page Preview Abstract A patient with monosialoganglioside accumulation in the brain is described who shows a clinical onset of the disease at 1 year of age, no visceromegaly [karger.com]

The type I (infantile) form is the most common and severe form with rapidly progressive central nervous system involvement and hypotonia by 6 months of age, visceromegaly, [genedx.com]

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

The presence of one of the above conditions can be suspected on the basis of progressive psychomotor retardation, visceromegaly, facial dysmorphism, skeletal abnormalities [escholarship.org]

Simpson Dysmorphia Syndrome

[…] macroglossia, hypertelorism, dental malocclusion, palatal abnormalities), supernumerary nipples, congenital heart defects and arrhythmias, vertebral segmental defects, abdominal visceromegaly [orpha.net]

[…] presence of macrosomia, polyhydramnios, elevated maternal serum-α-fetoprotein, cystic hygroma, hydrops fetalis, increased nuchal translucency, craniofacial abnormalities, visceromegaly [en.wikipedia.org]

Neuraminidase 1 Deficiency

Type II sialidosis is more severe than type I and is distinguished by the early onset of a progressive, rather severe, mucopolysaccharidosis-like phenotype with visceromegaly [medlink.com]

The early infantile form is associated with fetal hydrops, visceromegaly, skeletal and ophthalmologic disorders, and early death. [mayomedicallaboratories.com]

Patients with the late infantile form develop visceromegaly, dysostosis multiplex and heart involvement. 5. [glycoforum.gr.jp]

Infantile Sialic Acid Storage Disease

The main symptoms are hypotonia, cerebellar ataxia and mental retardation; visceromegaly and coarse features are also present in infantile cases. [tcdb.org]

Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. [genecards.org]

Mucolipidosis Type 1

[…] increasing severity with earlier age of onset; the one in neonates is accompanied by ascites, facial edema, inguinal edema, and early death; the one in infants is accompanied by visceromegaly [medical-dictionary.thefreedictionary.com]

The infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures [icd10data.com]

Type II sialidosis is more severe than type I and is distinguished by the early onset of a progressive, rather severe, mucopolysaccharidosis-like phenotype with visceromegaly [medlink.com]

Trisomy 11p

Interestingly, we found another report of a fetus with the clinical diagnosis of BWS (macroglossia, omphalocele, visceromegaly, and extra-lobar lung sequestration) and left-sided [frontiersin.org]

Mucolipidosis Type 3

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

The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. [mendelian.co]

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

GM1 Gangliosidosis

Clinical suspicion is based on signs of storage such as facial coarsening, hypertrophic gums, cherry-red macula, visceromegaly, dysostosis and psychomotor delay. [orpha.net]

Little visceromegaly and milder skeletal disease are present compared to the infantile form. Death usually occurs before the second decade of life. [emedicine.medscape.com]

• Cherry-red macula; • Cardiomyopathy (enlarged, weakened heart muscle); • Enlarged organs inside of the abdomen, including liver, spleen, stomach, kidneys, or pancreas (visceromegaly [secure.ssa.gov]

Ostravik-Lindemann-Solberg Syndrome

[…] contracture of thumb Spastic paraplegia Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Aqueductal stenosis Visceromegaly [mendelian.co]

Aceruloplasminemia

On abdominal palpation there was no evidence of visceromegalies. [ncbi.nlm.nih.gov]

Abdominal palpation did not identify visceromegalies. Her laboratory findings are shown in Table 1. [ncbi.nlm.nih.gov]

Tenorio Syndrome

Total Intestinal Aganglionosis

[…] admission to the tertiary hospital, weighting 2860g, he presented generalized muscle atrophy, sparse subcutaneous tissue, and distended abdomen tympanic to percussion, without visceromegaly [elsevier.es]

Gaucher Disease Type 3

[…] indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly [emedicine.medscape.com]

Wiedemann-Steiner Syndrome

A syndrome of multiple defects characterized primarily by umbilical hernia (hernia, umbilical); macroglossia; and gigantism; and secondarily by visceromegaly; hypoglycemia [icd10data.com]

Wilms' tumour, cardiac hamartoma, persistent visceromegaly and glomeruloneogenesis in a 2 year old boy. Arch Pathol 94:523–532 Google Scholar 63. [link.springer.com]

[…] umbilical abnormalities, cytomegaly of the adrenal cortex, hyperplasia of gonadal interstitial cells, renal hyperplasia with medullary dysplasia, pancreatic hyperplasia, visceromegaly [icd10data.com]

Progressive Myoclonic Epilepsy Type 3

General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots. [elsevier.es]

Ankyloblepharon Filiforme Adnatum - Imperforate Anus

neurodegeneration, and, type B juvenile-onset with visceromegaly, spot, type C has a variable onset, ataxia, and neurodegeneration. [eophtha.com]

[…] spot, vertical supranuclear gaze palsy rarely cherryred, Systemic features, including autosomal recessive, deficiency of sphingomyelinase, type A is infantile onset with visceromegaly [eophtha.com]

Progressive Myoclonic Epilepsy Type 7

General physical examination revealed no cutaneous stigmata (phacomatosis), visceromegalies, or retinal cherry-red spots. [elsevier.es]