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67 Possible Causes for Hepatomegaly, Postural Defect

  • Amyloidosis

    Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level.[ncbi.nlm.nih.gov] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[flybase.org] […] that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly[ncbi.nlm.nih.gov]

  • Hyperammonemia Type 3

    A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms[medical-dictionary.thefreedictionary.com] Above 1000 µmol/L: About 50% survive Ammonia levels seen in inborn errors of metabolism: Urea cycle defects: 500 to 2000 µmol/L Organic acidemia: 100 to 1000 µmol/L Transport[ebmconsult.com] IVb: neurologic deterioration, energy-deficiency type, without ketoacidosis and without hyperammonemia Type V: predominant liver presentation Type Va: hypoglycemia with hepatomegaly[ommbid.mhmedical.com]

  • Cockayne Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net]

  • Homocystinuria

    […] inborn error of metabolism of sulfur amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, hepatomegaly[medical-dictionary.thefreedictionary.com]

  • Infantile Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[ncbi.nlm.nih.gov] Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[disorders.eyes.arizona.edu]

  • Cardiac Asthma

    Typical signs: tachycardia, tachypnoea, pulmonary rales, pleural effusion, raised jugular venous pressure (JVP), peripheral oedema, hepatomegaly.[patient.info] Patients with chronic CHF and orthopnea have a considerable increase in airflow resistance upon adopting the supine posture associated with supine expiratory flow limitation[dx.doi.org] Tender hepatomegaly - pulsatile in tricuspid regurgitation, with ascites. Often extensive peripheral oedema. There may be swollen ankles, sacral oedema or ascites.[patient.info]

  • Parkinson's Disease

    Neonates with 3-β-hydroxy-C 27 -steroid oxidoreductase deficiency show hepatomegaly, mild steatorrhea, elevated serum ALT and AST, hyperbilirubinemia, and normal serum γ-glutamyl[doi.org] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[doi.org] The cause of PD remains unknown, but epidemiological and genetic studies have suggested that the observed loss of dopaminergic neurons in PD is due to defects in common intracellular[doi.org]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[ncbi.nlm.nih.gov] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[ulf.org] We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly.[thieme-connect.com]

  • Macrocephaly

    Clinically, the patient presented with extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been[ncbi.nlm.nih.gov] The affected child lies in a particular position termed a “Pretzel-like posture.” Atrial septal defect is reported in one-third of the patients.[ncbi.nlm.nih.gov] Phenotype remained unchanged, and hepatomegaly (12.5 cm, 2 SD) persisted.[nature.com]

  • Transient Hyperammonemia of the Newborn

    Infant becomes floppy, FTT, hepatomegaly, macroglossia at 1 month Noted cardiomegaly and hard muscles on exam Type 2 glycogen storage Pompe Diagnosis?[brainscape.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu] A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms[medical-dictionary.thefreedictionary.com]

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