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20 Possible Causes for Hyperbilirubinemia, Malabsorption Syndrome, Onset in First Weeks or Months of Life

  • Cholestasis

    Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common.[] Malabsorption Syndromes also often arise as a consequence of cholestasis as GI Lipid Absorption requires bile acids.[] We believe our patient’s persistent direct hyperbilirubinemia with biopsy-confirmed cholestasis was also likely related to his AHC.[]

  • Wolman Disease

    This particular form of these disorders is early in onset, usually developing within the first weeks or month of life.[] Significant hyperbilirubinemia (peak total and direct bilirubin levels: 54.4 and 45.8 mg/dl, respectively) developed at 7 weeks from BMT.[] […] lipase deficiency do not appear to reduce the abnormal lysosomal lipid levels in the liver substantially. 3,17 Characteristics at baseline, including portal hypertension, hyperbilirubinemia[]

  • 3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

    Keywords microvillus inclusion disease,Malabsorption Syndromes,Nutritional and Metabolic Diseases,Digestive System Diseases,Intestinal Diseases,Gastrointestinal Diseases,Metabolic[] The condition accounts for 1% to 2% of all occurrences of conjugated hyperbilirubinemia during infancy.[] […] include progressive familial intrahepatic cholestasis, diseases that present with neonatal cholestasis, which includes alpha-1-antitrypsin deficiency of ZZ phenotype, Alagille syndrome[]

  • Intrahepatic Cholestasis

    Alagille syndrome is caused by defects in the JAG1 or NOTCH2 gene.[] Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution[] Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common.[]

  • Hemorrhagic Disease of the Newborn

    Parenteral neonatal vitamin K prophylaxis prevents the development of late VKDB in infants, with the rare exception of those with severe malabsorption syndromes. 2 Oral administration[] […] gestational age infant (LGA) Physical maturity Pathology of prematurity Gross appearance of premature infant Difficulties in maintaining homeostasis Thermoregulation Hypoglycemia Hyperbilirubinemia[] It usually occurs from the second day of life to the end of the first week; however, it can occur during first month and sometimes overlaps with late-onset vitamin K deficiency[]

  • Dilated Cardiomyopathy Type 2B

    It can manifest as acute heart failure at any time of life, although the onset is often in the first weeks or months of life as the first manifestation, as in our case.2–6[] 8p21.3 Hypermanganesemia with dystonia 2 617013 608736 Autosomal recessive SLC40A1 2q32.2 Hemochromatosis, type 4 606069 604653 Autosomal dominant SLC46A1 17q11.2 Folate malabsorption[] Hormone Deficiency, Isolated 6 Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 1 Foveal Hypoplasia And Presenile Cataract Syndrome[]

  • Volvulus

    Complications of a volvulus can include any of the following: a severe infection of the blood called sepsis a malabsorption disorder called short bowel syndrome, which results[] Abdominal pain (RUQ, radiates epigastric), nausea, vomiting, fever, Murphy's sign Clinical (history & physical exam) Imaging (RUQ ultrasound) Labs ( leukocytosis, transamintis, hyperbilirubinemia[] The onset occurred in the first week of life in 3 patients, at age 1.5 months in another, and at age 5 months in the last one, although the latter had previously visited the[]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    1 17q23.1q23.2 microdeletion syndrome MURCS association Hereditary folate malabsorption Dihydrolipoamide dehydrogenase deficiency Oculoectodermal syndrome Pontine tegmental[] Age of onset is in the second and third decades of life and rarely in the first. Recovery is usually complete and begins weeks to months after the onset of symptoms.[] […] susceptibility to autism-4 Cryptomicrotia brachydactyly syndrome Disseminated superficial actinic porokeratosis Familial visceral myopathy with external ophthalmoplegia Hyperbilirubinemia[]

  • Pneumatosis Vaginalis

    MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------ diarrhea, weakness, weight loss, or symptoms from specific deficiencies.[] Hypertrophic Cardiomyopathy, Hyperbilirubinemia, & Polycythemia 6.[] […] two years of life, peak incidence at 6 weeks of age Seasonal pattern - winter and early spring months Clinical Picture Symptoms • Sudden onset of respiratory difficulty •[]

  • Benign Recurrent Intrahepatic Cholestasis Type 1

    As the disease progresses, there can be fat-soluble vitamin malabsorption caused by a decrease in the biliary secretion of bile acids.[] HYPERBILIRUBINEMIA 2.[] Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common.[]

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