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29 Possible Causes for Focal Atrophy of Choroid, Hepatomegaly

  • Hemochromatosis

    […] transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly[] The spectral domain optical coherence tomography showed retinal pigmentary epithelial atrophy associated with irregularities and focal interruption of the ellipsoid zone.[] Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and[]

  • Mulibrey Nanism Syndrome

    Hepatomegaly is yet another important presenting feature of Mulibrey Nanism.[] The optic nerve and the macula appeared normal while the midperiphery showed focal choroidal hypoplasia with marked atrophy of the retina and of the pigment epithelium.[] Hepatomegaly was obvious in half of the patients at the time of the diagnosis.[]

  • Schwartz-Lelek Syndrome

    Cleanses & Detoxifying Katz Syndrome “Katz Syndrome” In our body, the dis-order, Katz Syndrome is the allopathic name of a shortness of stature , cranial hyperostosis , hepatomegaly[] […] of choroid and retina Hereditary spherocytosis Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and[] […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[]

  • Arteriosclerotic Retinopathy

    Small Bowel Obstruction 441 Smallpox 442 Sore Throat 443 Spinal Cord Compression Epidural 444 Spinal Epidural Abscess 445 Spinal Tumors 446 Splenomegaly 447 Splenomegaly and Hepatomegaly[] Areas of retinal pigment epithelium clump and atrophy (Elschnig spots), forming from the focal acute white retinal pigment epithelium lesions.[] Triangular patches of atrophy result from the occlusion of a larger-caliber choroidal vessel Chronic hypertensive optic nerve changes Optic disc pallor develops in chronic[]

  • Acute Juvenile Hemorrhagic Cystitis

    Children 1.4 mg/dL, unexplained weight gain, ascites, hepatomegaly, or unexplained right upper quadrant pain (Arndt 2004).[] […] or choroiditis • Pars plana exudates (“snowbanking”) • Serous, tractional, or rhegmatogenous retinal detachment • Retinochoroidal atrophy • Choroidal and retinal neovascularization[] […] hyperbilirubinemia / Delayed / Incidence not known ascites / Delayed / Incidence not known hepatitis / Delayed / Incidence not known cholestasis / Delayed / Incidence not known hepatomegaly[]

  • Cytomegalovirus Retinitis

    The presentation of “CMV syndrome” (consisting of fever, leukopenia, atypical lymphocytes, hepatomegaly, myalgia, and arthralgia) is the most common manifestation of primary[] Central healing of the lesions occurs after necrosis, leading to atrophy of the retina and choroid (27). The second pattern of retinitis is the granular or atypical one.[] The retina shows granular focal infiltrates which increase linearly and slowly, leaving areas of retinal destruction with an atrophic retinal pigmentary epithelium allowing[]

  • Phakomatosis Pigmentokeratotica

    […] polysyndactyly Short s Short stature abnormal skin pigmentation mental retardation Short stature Brussels type Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[] MRI revealed evidence of focal cortical atrophy, leptomeningeal enhancement, and right choroid plexus enlargement.[]

  • Neuhauser Syndrome

    […] cholestasis - hyperandrogenism: polycystic ovary syndrome, gynecomastia, macropenis or hypertophy of the clitoris - excessive growth of some organs: hypertrophic cardiomyopathy, hepatomegaly[] On the basis of this report, clinicians should be alert to the possibility that ram il i es with autosomal dominant microcephaly and the classic focal areas of choroidal and[] […] retinal atrophy may also show high myopia, relevant ERG abnormalities, and short stature hitherto described only in the recessive form.[]

  • Optic Disc Drusen

    Table 1 Clinical features of the patient related with DiGeorge syndrome and Glycogen Storage Disease Ia GSD IA hepatomegaly, short stature, hypotonia peripheral punctate opacities[] Optical coherence tomography (OCT) demonstrated stable focal areas of subretinal fluid OU and macular atrophy OS.[] In addition, a thick choroid with large vessels was noted OU.[]

  • Familial Benign Flecked Retina

    Infantile onset MMA, non-responsive for B12, presents with developing lethargy, vomiting, dehydration, failure to thrive, hepatomegaly, hypotonia, and encephalopathy within[] A transmission (window) defect results from focal RPE atrophy (Fig. 13.2 7a) or absence, with resultant unmasking of normal background choroidal fluorescence (Fig. 13.2 7b[]

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