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54 Possible Causes for Hepatomegaly, Onset in First Weeks or Months of Life

  • Cholestasis

    For diagnosis of BA, clinical evaluation, hepatomegaly, stool color, serum gamma-glutamyltranspeptidase (GGT), duodenal juice color, bile acid in duodenal juice, ultrasonography[ncbi.nlm.nih.gov] Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common.[orpha.net] Clinical signs of cholestasis (discolored stools, dark urine) usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly[orpha.net]

  • Wolman Disease

    Hepatomegaly and/or elevation of liver transaminases are almost always present. Hepatic steatosis often leads to fibrosis and cirrhosis.[ncbi.nlm.nih.gov] This particular form of these disorders is early in onset, usually developing within the first weeks or month of life.[disability-benefits-help.org] In addition to hepatomegaly, vomiting and diarrhoea, characteristic radiological findings confirmed the diagnosis of the rare heritable lipidosis, Wolman's disease.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease

    They were ultimately found to have hepatomegaly, fasting hypoglycemia, mild elevation of transaminases and ketosis.[ncbi.nlm.nih.gov] Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] The child presented with progressive abdominal swelling due to marked hepatomegaly.[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 2

    Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[ncbi.nlm.nih.gov] Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] […] classic-infantile-onset disease, described by Pompe in 1932 and delineated prior to discovery of the deficiency of acid α-glucosidase (acid maltase), with cardiomyopathy, hypotonia, hepatomegaly[ommbid.mhmedical.com]

  • Beckwith-Wiedemann Syndrome

    […] creases / pits Case of BWS with an enlarged tongue and omphalocele Gross images Images hosted on other servers: Large lobulated adrenal glands Placental mesenchymal dysplasia Hepatomegaly[pathologyoutlines.com] Occasionally, onset of hypoglycemia is delayed until the first month after birth.[encyclopedia.com] […] part, is bigger than the other) Apart from these, the infant may have large eyes, undescended testicles (cryptorchidism), small head size (microcephaly), enlarged liver (hepatomegaly[dovemed.com]

  • Sexually Transmitted Disease

    ., hepatomegaly, ascites, hydrops, or a thickened placenta) indicate a greater risk for fetal treatment failure ( 108 ); such cases should be managed in consultation with[cdc.gov] Early-onset sepsis is seen in the first week of life. Late onset sepsis occurs after 1 week through 3 months of age.[medlineplus.gov] ., hepatomegaly, ascites, hydrops, fetal anemia, or a thickened placenta) indicate a greater risk for fetal treatment failure ( 231 ); such cases should be managed in consultation[cdc.gov]

  • Sepsis

    Hepatomegaly occurs in children who are fluid overloaded and can be a helpful sign of adequacy of fluid resuscitation.[doi.org] Early-onset sepsis is seen in the first week of life. Late onset sepsis occurs after 1 week through 3 months of age.[medlineplus.gov]

  • Congenital Herpes Simplex Infection

    Abdominal examination revealed hepatomegaly of 2 cm with liver span of 6 cm. Head size was large with dilated veins.[mjdrdypv.org] month of life.[ncbi.nlm.nih.gov] The liver function tests were markedly elevated; there was associated hepatomegaly with both the cases showing obstruction to bile drainage on HIDA scan.[mjdrdypu.org]

  • Intrahepatic Cholestasis

    Abstract We report the case of a 68-year-old African woman who presented with jaundice, hepatomegaly and anasarca.[ncbi.nlm.nih.gov] Clinical description The first cholestatic episode can occur at any age but onset within the first two decades of life is most common.[orpha.net] Hepatomegaly is also a common finding. Between episodes patients show no symptoms and the interval between attacks varies from months to years.[orpha.net]

  • Dilated Cardiomyopathy Type 2B

    At the age of 9 months the patient's condition was severely restricted due to signs of cardiac insufficiency with poor feeding, sweating, hepatomegaly (2-3 cm) and perioral[ncbi.nlm.nih.gov] 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[revespcardiol.org] […] duration increases with worsening disease.[11] Advanced disease may present with signs of right-sided heart failure such as parasternal heave, jugular venous distension, hepatomegaly[en.wikipedia.org]

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