Common Features of the Disorder Failure to thrive during infancy Chronic diarrhea Vomiting Liver enlargement Liver disease Intestinal bleeding Prognosis Without treatment the disorder can be life threatening. [evolvegene.com]

[…] to thrive in infancy, short stature, curly/sparse fine hair, facial and/or perianal papillomata, loose soft skin with deep palmar and plantar creases, and developmental delay/ intellectual disability. [chginc.org]

Instead, patients present predominantly with diarrhoea, failure to thrive and protein-losing enteropathy (Pelletier et al. 1986). [reactome.org]

Homepage Rare diseases Search Search for a rare disease MPI-CDG Disease definition MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal [orpha.net]

He presented at 6 months with hypoglycaemia, failure to thrive and hypertransaminasaemia. He subsequently developed an enteropathy with subtotal villous atrophy on biopsy. [ncbi.nlm.nih.gov]

At the age of 28 years, she experienced recurrent hepatic encephalopathy, severe upper abdominal pain requiring morphine, constipation, and a severely decreased exercise tolerance. A year earlier she could swim, study, and go to work every day. [pediatrics.aappublications.org]

Other features are constipation, extremity pain, paresthesias, nausea, vomiting, urinary retention, hypertension, peripheral sensory deficits (often in a “bathing trunk” distribution), and weakness leading to ascending paralysis or quadriplegia. [clinicalgate.com]

Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

[…] unusually distributed subcutaneous fatpads on buttocks, joint contractures severity is variable initial mortality 20% if survive, psychomotor retardation, hypotnoia, ataxia, polyneuropathy, retinitis pigmentosa, transient stroke-like episodes, seizures osteopenia [emilytam.com]

Affected individuals have developed a prematurely aged (progeroid) facial appearance, cognitive impairment, developmental disability, progressive microcephaly, seizures, and osteopenia, a condition characterized by decreased bone mineralization and bone [rarediseases.org]

As a rule there is osteopenia. A very common feature is cerebellar hypoplasia, which can usually be documented at or shortly after birth. [nature.com]

[…] worsen with GCSF therapy, and bone marrow aspiration before and during GCSF therapy may be prudent, given rare occurrences of acute myelogenous leukemia (AML) in patients with GSD type 1b. 61 Both GCSF and inflammatory bowel disease raise the risk of osteopenia [clinicalgate.com]

Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. [ojrd.biomedcentral.com]

His special interests include life-threatening asthma, meningitis, traumatic brain injury and the use of bedside ultrasound in the critically ill infant and child. Robert F. [books.google.com]

ANALYZED: R83C, Q347X CARRIER FREQUENCY: 1 in 71 (Ashkenazi Jewish) MODE OF INHERITANCE: autosomal recessive Glycogen storage disease Type 1A (GSD1A) is a metabolic condition that when untreated, often results in severe hypoglycemia, seizures, hepato- and renomegaly [chginc.org]

The portal vein was partially occluded by a mural thrombus. The graft functioned immediately. The aneurysms were not amenable to surgery during transplantation. [pediatrics.aappublications.org]