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838 Possible Causes for Cataract, Hepatomegaly, Xeroderma

  • Diabetes Mellitus

    Abstract Glycogenic hepatopathy is a rare condition that causes significant hepatomegaly and elevated liver enzyme levels in uncontrolled type 1 diabetic patients.[] Considering this, we reviewed the principles and guidelines of managing cataract in patients with diabetes.[] Children with diabetic dwarfism syndrome, which was also known as Mauriac's syndrome, suffered from stunted growth, hepatomegaly, and delayed puberty. 4 In 1936, the first[]

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[] To describe cataracts in classic and early onset Cockayne syndrome (CS).[] […] whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma[]

  • Ichthyosis

    Subsequently fasting hypoketotic hypoglycemia occurred without permanent hepatomegaly or hyperlipidemia.[] In a third in which the mother had cataracts and ichthyosis, two of her female children had cataracts.[] Ichthyosis, also called fish-skin disease, or xeroderma, a hereditary condition involving dryness and scaliness of the skin brought about by excessive growth of the horny[]

  • Ayerza Syndrome

    In the cardiovascular examination there was jugular venous distension, hepatomegaly, hepatojugular reflux, ascites and oedema of lower limbs.[] […] blood disorder NEC V78.9 specified type NEC V78.8 bronchitis, chronic V81.3 brucellosis V74.8 cancer - see Screening, malignant neoplasm cardiovascular disease NEC V81.2 cataract[] 093.89 valve (see also Syphilis, endocarditis) 093.20 hemianesthesia 094.89 hemianopsia 095.8 hemiparesis 094.89 hemiplegia 094.89 hepatic artery 093.89 hepatitis 095.3 hepatomegaly[]

  • Hypoparathyroidism

    An abdominal ultrasound showed inferior vena cava suprahepatic veins dilation without hepatomegaly.[] Abstract Cataract is a cardinal manifestation of hypoparathyroidism.[] […] leaded to increase the risk of cataract.[]

  • Hypervitaminosis A

    Further systemic consequences of HA are hepatotoxicity, hepatomegaly, splenomegaly, ascites, migratory arthritis, and hepatic hydrothorax.[] Antioxidant capabilities Lung, oral, and prostate cancers Studies indicate that vitamin A-containing foods are moreprotective than supplements Age-related macular degeneration Cataracts[] Manifestations include bone fragility, xeroderma, nausea, headache, and loss of hair. hypervitaminosis a condition produced by ingestion or injection of excessive amounts[]

  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[] […] of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma, seizures, cataracts[] ITTIOSIFORME CONGENITO NON BOLLOSO SINDROME KID (codice RN1500) SINDROME CHERATITE-ITTIOSI-SORDITA' RN0500 CUTIS LAXA RNG130 CHERATODERMIE PALMOPLANTARI EREDITARIE RN0520 XERODERMA[]

  • Tricho-Retino-Dento-Digital Syndrome

    […] polysyndactyly Short s Short stature abnormal skin pigmentation mental retardation Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[] Nails Hair Hair: pili canaliculi uncombable hair pili trianguli Genitourinary External Genitalia Male: hypospadias Skeletal Feet: brachydactyly Head And Neck Eyes: juvenile cataract[] […] hypohidrotic dysplasia Tricho retino dento digital syndrome Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Trichodermodysplasia dental alterations Trichodysplasia xeroderma[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] ribs craniosynostosis polysyndactyly Short stature abnormal skin pigmentation mental retardation Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[] The ectodermal traits are clearly seen as trichodysplasia, onychodysplasia, skin manifestations, and nuclear cataract.[] […] pigmentosum, group A XPA Xeroderma pigmentosum, group C XPC Xeroderma pigmentosum, group D ERCC2 Xeroderma pigmentosum, group E, DDB-negative subtype DDB2 Xeroderma pigmentosum[]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia.[] […] colon / bowel, leukemia / lymphoma, lung, melanoma / skin, multiple endocrine neoplasia, oral, ovarian, pancreas, prostate, retinoblastoma, testicular, von Hippel-Lindau, xeroderma[]

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