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116 Possible Causes for Hepatomegaly, Nystagmus, Postural Defect

  • 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] Other findings included peripheral retinopathy (8/12 [67%]), nystagmus (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).[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[clinicaladvisor.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] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[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] IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] 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[dovemed.com] Abnormal ocular movements were seen in 13/15 (saccadic intrusion in 8 and nystagmus in 5).[ncbi.nlm.nih.gov]

  • 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] Nystagmus, or involuntary eye movement, and pupils that fail to dilate demonstrate a loss of control of voluntary and involuntary muscle movement.[en.wikipedia.org]

  • 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] The reading scan was disturbed by saccadic intrusions and/or nystagmus.[ncbi.nlm.nih.gov]

  • 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] […] acquired brain injury. [2] Common adverse effects include drowsiness, dizziness, gait instability, nausea, vomiting, hypotension, hyponatremia, elevated liver transaminases, nystagmus[ijpm.info]

  • Ocular Albinism

    The disease is characterized a susceptibility to infections, anemia (low blood count), and hepatomegaly (enlarged liver).[aapos.org] Furthermore, patients should be counseled about maintaining a correct head posture to prevent nystagmus. Peripheral retinal defects are often treated with cryopexy.[symptoma.com] BACKGROUND: Nystagmus is common to all types of albinism.[ncbi.nlm.nih.gov]

  • Neurological Disorder

    […] type 3 is also associated with the clinical and biological signs of ''systemic'' disease, such as frequent asthenia, growth retardation or delayed puberty, splenomegaly and hepatomegaly[orpha.net] The patient was somnolent and had severe limb, gait, and postural ataxia (he was unable to walk or sit up in bed without assistance) and moderate dysarthria.[nejm.org] Migraine, tachycardia, intention tremor, nystagmus and cervical dystonia were observed in isolated individuals.[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] Frequency HPO Source Accession 1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260 2 congenital miosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0007728 3 nystagmus[malacards.org]

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