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43 Possible Causes for Hepatomegaly, Postural Defect, Skin Lesion

  • 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] The patient responded well to the CyBorD scheme (cyclophosphamide, bortezomib, dexamethasone), renal function was recovered and skin lesions decreased.[scielo.org.co]

  • 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]

  • 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] Symptoms Coarse facies ( Table 66-42 ) Skin lesions (vesicobullous lesions, rashes, photosensitivity, hyperkeratosis, ichthyosis, ulcers, nodules, laxity) ( Tables 66-43,[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] (b) Characteristic skin lesions: freckling, hypopigmented macules, telangiectasias, and atrophic skin. (c) Typical Cockayne syndrome facies at age 6 years.[ncbi.nlm.nih.gov] Abstract UV irradiation is one of the major external insults to cells and can cause skin aging and cancer.[ncbi.nlm.nih.gov]

  • Singleton Merten Syndrome

    […] ribs craniosynostosis polysyndactyly Short stature abnormal skin pigmentation mental retardation Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[personalizedcause.com] Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] lesions.[ncbi.nlm.nih.gov]

  • 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 skin lesions were resistant to classical topical and systemic medications.[ncbi.nlm.nih.gov]

  • 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] […] inspection including evaluation for midline spinal lesions.[pedclerk.bsd.uchicago.edu]

  • Disorder of Ornithine Metabolism

    Liver disease is common, and includes hepatomegaly, conjugated hyperbilirubinaemia, progression to cirrhosis and liver... ‏[books.google.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu] Progressive liver damage, skin lesions, and brittle hair may also be seen.[house.wikia.com]

  • Ataxia Telangiectasia

    (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly[ncbi.nlm.nih.gov] Defects in speech Spider-like veins visible along the skin and eyes Recurrent lung, sinus, and ear infection Slow physical and sexual maturation How is Ataxia Telangiectasia[dovemed.com] lesions to malignant lesions will permit us to prevent or cure skin cancers.[ncbi.nlm.nih.gov]

  • 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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