Abdominal Protuberance: Causes & Reasons

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Possible Causes for Abdominal Protuberance

Glycogen Storage Disease Type 1

protuberance hyperventilation and apparent respiratory distress due to metabolic acidosis episodes of vomiting due to metabolic acidosis, often precipitated by minor illness [en.wikipedia.org]

There is abdominal protuberance because of massive hepatomegaly. With ageing, the patient may present with poor growth, short stature, and rachitic changes[ 2 ]. [wjgnet.com]

[…] edit ] Several different problems may lead to the diagnosis, usually by two years of age: seizures or other manifestations of severe fasting hypoglycemia hepatomegaly with abdominal [en.wikipedia.org]

Mucopolysaccharidosis

Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops[…] [ncbi.nlm.nih.gov]

Spondyloepimetaphyseal Dysplasia Type Strudwick

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in[…] [ghr.nlm.nih.gov]

Niemann-Pick Disease Type A

Glycogen Storage Disease Type 1B

Achondrogenesis, Type 1A

Achondrogenesis type 1A (ACG1A) is an autosomal recessive neonatal lethal skeletal disorder. Newborns affected with Achondrogenesis type 1A have severe shortening of all bones and also feature absent mineralization in the skull and the vertebral column. We identified mutations in the gene TRIP11 as the cause of[…] [childrenshospital.org]

Platyspondylic Lethal Skeletal Dysplasia Type Torrance

Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, brachydactyly, and metaphyseal changes. Generally a perinatally lethal disease, a few long-term survivors have been reported. Recently, mutations in the carboxy-propeptide of type II[…] [ncbi.nlm.nih.gov]

Cranioectodermal Dysplasia Type 1

Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible. Three genes responsible have been identified: intraflagellar transport (IFT)122[…] [en.wikipedia.org]

Short Rib-Polydactyly Syndrome Type Beemer-Langer

Abstract Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic[…] [ncbi.nlm.nih.gov]

X-linked Cardiac Valvular Dysplasia

protuberance described. [ri.uaemex.mx]

Resumen: The development of a clinical case of a canine breed Bulldog ingles, 3.5 months old male having difficulty breathing, impaired physical activity as well as an abdominal [ri.uaemex.mx]

Cerebral Lipidosis

The clinical picture as seen to date shows poor weight gain, vomiting and diarrhea, increasing hepatosplenomegaly with abdominal protuberance, and death in nutritional failure [pediatrics.aappublications.org]

Facioscapulohumeral Dystrophy

Figure Right abdominal protuberance and right humeral atrophy. References 1. Tasca G, Monforte M, Ottaviani P, Pelliccioni M, Frusciante R, Laschena F et al. [scielo.br]

Weak abdominal muscles result in a protuberant abdomen and contribute to the lumbar lordosis. [fshsociety.org]

[…] muscles causing protuberant abdomen Coat’s syndrome: A congenital, non-hereditary eye disorder that leads to partial or complete vision loss Mental impairment Seizures Hypertension [dovemed.com]

Mucopolysaccharidosis Type 7

Umbilical and inguinal hernias frequently occur in MPS due to abdominal protuberance from hepatosplenomegaly and ineffective connective tissue support of the anterior abdominal [joacp.org]

Lumbar Compression Fracture

protuberance, compression of abdominal organs with early satiety and loss of weight. [symptoma.com]

In severe cases, this results in impaired pulmonary function, a protuberant abdomen, and—because of compressed abdominal organs—early satiety and weight loss. 16 Complications [aafp.org]

[…] result, the individual has to actively contract the paraspinal muscles to maintain posture leading to fatigue and in severe cases, it can lead to impaired lung function, abdominal [symptoma.com]

Mauriac Syndrome

protuberance, proximal muscle wasting and moon face. [jomrjournal.org]

[…] glycogenosis), puberty and growth delay, dyslipidemia, transaminase elevation and reduction of insulin-like growth factor-1 (IGF-1). [1] Other clinical features include abdominal [jomrjournal.org]

Osteitis Fibrosa Disseminata

The testosterone treatment resulted in a strikingly positive nitrogen balance, a gain in weight and strength, thickening of the skin, and a reduction in abdominal protuberance [cjasn.asnjournals.org]

Facioscapulohumeral Muscular Dystrophy

Weak abdominal muscles result in a protuberant abdomen and contribute to the lumbar lordosis. [fshsociety.org]

[…] muscles, protuberant abdomen Curved spine (lordosis). [genpharmservices.com]

Forbes-Albright Syndrome

Glycogen Storage Disease Type 1C

protuberance hyperventilation and apparent respiratory distress due to metabolic acidosis episodes of vomiting due to metabolic acidosis, often precipitated by minor illness [en.wikipedia.org]

Hyperlipidemia due to Hepatic Triglyceride Lipase Deficiency

Nonspecific clinical signs include poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance. [bredagenetics.com]

Lipodystrophy

protuberance, hypoglycemia and insulin-resistant nonketotic diabetes, hyperlipemia, marked elevation of the basal metabolic rate, accelerated somatic growth, advanced bone [medical-dictionary.thefreedictionary.com]

Abdomen was protuberant due to excess intra-abdominal fat. He had been on protease inhibitor containing antiretroviral therapy for more than 7 years. From Garg A. [ncbi.nlm.nih.gov]

[…] characterized by a generalized loss of subcutaneous fat and extracutaneous adipose tissue, present at birth or appearing later in life, and associated with hepatomegaly with abdominal [medical-dictionary.thefreedictionary.com]

Cholesterol Ester Storage Disease

Nonspecific clinical signs include poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance. [bredagenetics.com]

Disorders of Pyruvate Metabolism and Gluconeogenesis

protuberance hyperventilation and apparent respiratory distress due to metabolic acidosis episodes of vomiting due to metabolic acidosis, often precipitated by minor illness [en.wikipedia.org]

Mucopolysaccharidosis Type 4A

Umbilical and inguinal hernias frequently occur in MPS due to abdominal protuberance from hepatosplenomegaly and ineffective connective tissue support of the anterior abdominal [joacp.org]

Umbilical and inguinal hernias due to abdominal protuberance from hepato-splenomegaly and ineffective connective tissue supports of the anterior abdominal wall frequently [ijaweb.org]

Abdominal Muscle Strain

View/Print Table TABLE 3 Etiology of Abdominal Wall Pain Etiology Comments Diagnosis Hernia Protuberance in abdominal wall that usually decreases in size when patient is supine [aafp.org]

Wall Pain Etiology Comments Diagnosis Hernia Protuberance in abdominal wall that usually decreases in size when patient is supine Abdominal CT scanning, abdominal ultrasonography [aafp.org]

Pain also can occur in or around the abdominal wall where muscles insert on bones or cartilage. [aafp.org]

Right Atrial Myxoma

Common symptoms associated with the failing right heart are prominent jugular a waves, increases in venous pressure, abdominal protuberance due to ascites and hepatomegaly [atlasgeneticsoncology.org]

Wolman Disease

Nonspecific clinical signs include poor weight gain, vomiting, diarrhea, increasing hepatosplenomegaly with abdominal protuberance. [bredagenetics.com]

protuberance Clinical features from OMIM: 278000 UMLS symptoms related to Lysosomal Acid Lipase Deficiency: vomiting, diarrhea Drugs for Lysosomal Acid Lipase Deficiency [malacards.org]

[…] hypertriglyceridemia hypercholesterolemia elevated alanine aminotransferase (alt) low lysosomal acid lipase activity Endocrine Features: adrenal calcification Abdomen External Features: abdominal [malacards.org]

Neoplasm of the Liver

A 20-year-old woman suffering abdominal protuberance consulted her gynecologist. Transvaginal ultrasonography revealed a pelvic tumor. [jcgo.org]

protuberance. [jcgo.org]

Elevated CA125 doi: http://dx.doi.org/10.14740/jcgo344w Abstract Introduction Case Report Discussion References A 20-year-old woman presented with a pelvic tumor that caused abdominal [jcgo.org]

Congenital Generalized Lipodystrophy Type 1

Some common features among the 2 cases include lack of body fat and acanthosis nigricans, as well as abdominal protuberance. [ncbi.nlm.nih.gov]

Urachal Cyst

The initial abdominal examination was normal; however, within 24 hours, the umbilicus became protuberant and erythematous (Panel A). [nejm.org]

A 19-month-old girl with a history of myelomeningocele and Chiari malformation type II presented with abdominal pain. [nejm.org]

Medicine Nicholas Potisek, M.D., and James Weihe, M.D. 1 Citing Article A 19-month-old girl with a history of myelomeningocele and Chiari malformation type II presented with abdominal [nejm.org]