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60 Possible Causes for Cataract, Hepatomegaly, Postural Defect

  • 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] To describe cataracts in classic and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov] Ocular manifestations are common, particularly congenital cataract and retinal dystrophy.[ncbi.nlm.nih.gov]

  • 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] The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections[ncbi.nlm.nih.gov] 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[cancertherapyadvisor.com]

  • Refsum Disease

    Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia.[ncbi.nlm.nih.gov] 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]

  • 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] Although almost half of the supers had osteoporosis and almost 90 percent had cataracts, 41 percent of them either lived on their own or required only minimal help with tasks[web.archive.org]

  • 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] , milder condition- what is deficient galactokinase what accumulates with galactokinase deficiency galactitiol FTT, jaundice, HSM, infantile cataracts, MR- what is deficient[memorize.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] Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia.[ncbi.nlm.nih.gov]

  • 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] Zoom-Heart Trouble Cardiac Asthma Angina Pectoris Heart Attack HBP Zoom- NonInfectious- Migraines, Epileptic Fits, Cataract Zoom-Osteomalacia-Shock Zoom- Rheumatoid Arthritis[assam.gov.in]

  • 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] […] profile: Elevated plasma citrulline and glutamine, elevated urine argininosuccinate Clinical features: Episodic hyperammonemia, hepatic fibrosis, elevated liver enzymes, hepatomegaly[merckmanuals.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] Chromosome 1q21.1 deletions (OMIM 612474) have been associated with microcephaly, intellectual disability, autism, schizophrenia, cardiac abnormalities and cataracts.[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation.[doi.org] Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[mayomedicallaboratories.com] He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov]

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