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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.[] 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[]

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

  • 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[] 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[]

  • 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[] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[] […] disease produces hepatomegaly, but rarely jaundice.[]

  • 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[] 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[] IVb: neurologic deterioration, energy-deficiency type, without ketoacidosis and without hyperammonemia Type V: predominant liver presentation Type Va: hypoglycemia with hepatomegaly[]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[] 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.[]

  • Infantile Refsum Disease

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

  • 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[] Lack of muscle coordination is due to a defect in the cerebellum that lies beneath the back section of the cerebrum.[] 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[]

  • H Syndrome

    […] two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly[] 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[] General physical examination was normal except mild hepatomegaly.[]

  • Urea Cycle Disorder

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

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