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111 Possible Causes for Hepatomegaly, Postural Defect, Sensorineural Hearing Loss

  • 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] SIGNIFICANCE STATEMENT: The utility of cisplatin in chemotherapy remains limited due to serious side effects, including sensorineural hearing loss.[ncbi.nlm.nih.gov]

  • 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] Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis[ncbi.nlm.nih.gov]

  • 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] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[ncbi.nlm.nih.gov]

  • 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] Muckle-Wells syndrome: a treatable cause of congenital sensorineural hearing loss. B-ENT. 2013. 9(2):161-3. [Medline].[emedicine.com]

  • Oculomotor Apraxia

    Hepatomegaly and splenomegaly were reported in a few patients [ 1 , 3 , 6 , 62 , 72 ].[rheumatology.oxfordjournals.org] 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] Her audiogram ( Figure 1 ) showed a severe right sensorineural hearing loss, and moderate left sensorineural hearing loss.[pubs.sciepub.com]

  • Autosomal Dominant Optic Atrophy and Cataract

    Zellweger is the most severe phenotype with severe hypotonia, neonatal seizures, neuronal migration defects, and hepatomegaly.[aao.org] Some patients with Leber hereditary optic neuropathy have cardiac conduction defects.[merckmanuals.com] Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes.[orpha.net]

  • Chronic Progressive External Ophthalmoplegia

    ., hepatomegaly ) Diagnosis Observation of cystine crystals in the cornea during slit lamp examination Progressive GFR Hypokalemia, hyponatremia, metabolic acidosis Confirmed[amboss.com] Besides, the patient adopts a defective head posture for proper viewing.[jemds.com] * Hearing Loss, Sensorineural/etiology* Hearing Loss, Sensorineural/physiopathology Humans Kearns-Sayre Syndrome/complications* Kearns-Sayre Syndrome/physiopathology Male[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] […] method) Temporal artery biopsy positive Other signs of GCA Visual Loss transient visual loss non-embolic BRAO or CRAO combined CRAO and CRVO ophthalmic artery occlusion posture[pedseyes.org] 389.14 Central hearing loss 389.15 Sensorineural hearing loss, unilateral 389.16 Sensorineural hearing loss, asymmetrical 389.17 Sensory hearing loss, unilateral 389.18 Sensorineural[theodora.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] People with this type of ataxia share many characteristic symptoms including: frequent falls due to poor balance imprecise hand coordination postural or kinetic tremor of[en.wikipedia.org] Sensorineural hearing loss is seen in almost all affected individuals.[refsumdisease.org]

  • 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] Her brother had fixed flexion contractures of the feet, profound sensorineural hearing loss, characteristic dysmorphic features, but no diabetes.[ncbi.nlm.nih.gov]

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