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127 Possible Causes for Hepatomegaly, Postural Defect

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[elsevier.es] 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]

  • 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] Eye movement abnormalities (80% of patients) with characteristic oculomotor apraxia, with nystagmus and various defects in saccade and gaze control (usually, abnormalities[raredisorders.imedpub.com]

  • 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] Many, if not all, patients have some type of hepatic involvement which may produce mild hepatomegaly with imaging characteristics and/or biopsied pathology of fatty infiltration[clinicaladvisor.com]

  • Amyloidosis

    […] toenails Purple color on the eyelids, around the eyes (periorbital purpura), and/or other areas of skin folds Signs indicating the liver is affected include: Enlarged liver (hepatomegaly[my.clevelandclinic.org] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[flybase.org] […] disease produces hepatomegaly, but rarely jaundice.[patient.info]

  • 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]

  • 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]

  • 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]

  • Occipital Encephalocele

    Seite 379 - Lymphadenopathy ( 0.5 cm at more than two sites; bilateral one site) —Hepatomegaly —Splenomegaly — Dermatitis — Parotitis — Recurrent or persistent upper respiratory[books.google.de] Lack of muscle coordination is due to a defect in the cerebellum that lies beneath the back section of the cerebrum.[hxbenefit.com] Ataxia In this condition, affected patients may experience poor coordination and unsteadiness due to the failure of the brain to regulate the posture of the body as well as[hxbenefit.com]

  • H Syndrome

    […] two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly[kclpure.kcl.ac.uk] Then he discovers some defect of his body image maturation, with a false localization in the space of his various body segments and a false image of his limits, which it is[ada-posturologie.fr] General physical examination was normal except mild hepatomegaly.[ijpd.in]

  • Urea Cycle Disorder

    […] profile: Elevated plasma citrulline and glutamine, elevated urine argininosuccinate Clinical features: Episodic hyperammonemia, hepatic fibrosis, elevated liver enzymes, hepatomegaly[msdmanuals.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu] Infantile hepatic hemangioendothelioma) Hepatic insufficiency Hepatic vascular malformations Hepatitis A, B & C (chronic or acute) Hepatoblastoma Hepatomegaly Jaundice Liver[childrensmercy.org]

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