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44 Possible Causes for Abnormal Gait, 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] The abnormal gait is due to contractures of the ankles, knees and hips as well as leg spasticity and ataxia.[symptoma.com] Increased tone/spasticity, hyper- or hyporeflexia, abnormal gait or inability to walk, ataxia, incontinence, tremor, abnormal or absent speech, seizures, weak cry/poor feeding[ncbi.nlm.nih.gov]

  • Parkinson's Disease

    Neonates with 3-β-hydroxy-C 27 -steroid oxidoreductase deficiency show hepatomegaly, mild steatorrhea, elevated serum ALT and AST, hyperbilirubinemia, and normal serum γ-glutamyl[doi.org] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[doi.org] abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia Applies To Parkinsonism or Parkinson's disease: NOS idiopathic primary ICD-9-CM[icd9data.com]

  • Urea Cycle Disorder

    […] profile: Elevated plasma citrulline and glutamine, elevated urine argininosuccinate Clinical features: Episodic hyperammonemia, hepatic fibrosis, elevated liver enzymes, hepatomegaly[msdmanuals.com] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[pedclerk.bsd.uchicago.edu] If one suffers from hyperammonemia, a result of UCD, the following symptoms may manifest: Fatigue Lethargy Vomiting Respiratory issues Seizures Behavior issues Gait abnormalities[doctordaliah.wordpress.com]

  • 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] The records of all patients seen at the Ataxia-Telangiectasia Clinical Center from July 1, 1995 to April 1, 1997 were reviewed to determine age of onset of gait abnormality[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] Examination of the central nervous system revealed a wide-based gait with some unsteadiness.[ajnr.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] Gait abnormality: In arginase deficiency, spastic diplegia, ( toe walking) Behavior disturbances: sleep disturbances, irritability, hyperactivity, manic episodes, psychosis[slideshare.net]

  • 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] Clinical findings in twenty-eight previously discovered cases are reviewed; they include mental retardation, fair hair and skin, rosy cheeks, abnormal gait, thrombophlebitis[healio.com] 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]

  • 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] Examination of the central nervous system revealed a wide-based gait with some unsteadiness.[ajnr.org]

  • Ataxia

    Consequently, patients may develop splenomegaly and hepatomegaly as well as ataxia.[pn.bmj.com] Cerebellar lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction[neuromuscular.wustl.edu] gait or difficulty walking, nausea, and vomiting.[glutenfreesociety.org]

  • 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] Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present.[disorders.eyes.arizona.edu]

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