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4,004 Possible Causes for Hepatomegaly, Myoclonic Jerking, Onset of Disease between 25 and 40 Years of Age

  • Wilson Disease

    CONCLUSIONS: Wilson disease can present with only significantly increased transaminases activity and hepatomegaly or liver failure, but neurological symptoms are very rare[ncbi.nlm.nih.gov] jerking similar to that seen in progressive myoclonic syndrome.[web.archive.org] Onset is slow and begins between 11 and 25 years of age. Signs and Symptoms In about 40 to 50% of patients, the disease first affects the central nervous system (CNS).[diagnose-me.com]

  • Gaucher Disease

    A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection[ncbi.nlm.nih.gov] Before the introduction of miglustat, this patient experienced frequent multifocal myoclonic jerks (up to 50 generalized seizures per day) as well as severe dystonia in his[jmedicalcasereports.biomedcentral.com] After 4years of ERT, therapeutic goals for thrombocytopenia and splenomegaly had been achieved in 100% of patients; goals for anemia and hepatomegaly had been achieved in[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Mucolipidosis

    […] patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly[ncbi.nlm.nih.gov] Random multifocal myoclonic jerks had diffuse EEG correlates [Figure 1]. Attenuation of visual evoked potentials was noted.[neurologyindia.com] Abstract We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Hypoglycemia

    An infant presented with short history of jaundice and irritability, examination showed soft hepatomegaly.[ncbi.nlm.nih.gov] In newborns, hypoglycemia can produce irritability, jitters, myoclonic jerks, cyanosis, respiratory distress, apneic episodes, sweating, hypothermia, somnolence, hypotonia[en.wikipedia.org] Hepatomegaly. Response to glucagon is intact. Patients can be ketotic.[pedclerk.bsd.uchicago.edu]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Benign Adult Familial Myoclonic Epilepsy

    […] dystrophy, Selcen type Muscular dystrophy with progressive weakness, distal contractures and rigid spine Muscular enolase deficiency Muscular glycogenosis Muscular hypertrophy-hepatomegaly-polyhydramnios[orpha.net] By the jerk-locked averaging method, a positive spike time-locked to the myoclonic jerk was demonstrated in four patients before 15-20 msec of myoclonic jerk.[ci.nii.ac.jp] Celiac disease (or gluten sensitive enteropathy): The age of onset may vary between 40 - 80 years and the mean duration of ataxia between 3 to 25 years.[neuroweb.us]

  • Chronic Alcoholism

    Hepatomegaly (in chronic alcoholic liver disease the liver is shrunken). Ascites; gonadal atrophy. Atrial fibrillation and cardiomyopathy.[patient.info] During his admission he became drowsy and had myoclonic jerks. Both CT scan brain and lumbar puncture were normal.[ndt.oxfordjournals.org] Characteristic ultrasonographic findings include a hyperechoic liver with or without hepatomegaly.[clevelandclinicmeded.com]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Hemochromatosis

    […] transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly[ncbi.nlm.nih.gov] Two patients are reported with IHC and a syndrome of ataxia, rigidity, myoclonic jerks, and dementia.[ncbi.nlm.nih.gov] Eight of the 16 homozygous subjects had clinical findings that were consistent with the presence of hereditary hemochromatosis, such as hepatomegaly, skin pigmentation, and[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Alzheimer Disease

    […] also significantly reduced macrophage infiltration of white adipose tissue, increased adipose tissue adiponectin production, and decreased hepatic nuclear NF-κB activity, hepatomegaly[ncbi.nlm.nih.gov] After 36 hours of donepezil remission, the frequency of the myoclonic jerks was sharply reduced. The patient remains asymptomatic after 6 months of follow-up.[ncbi.nlm.nih.gov]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Progressive Myoclonic Epilepsy Type 8

    Significant pruritus, hepatomegaly, and failure to thrive are typical features of this disease.[medscape.com] Since 5, the patient experienced myoclonic jerks, mainly when he was running, exercising, or getting dressed.[onlinelibrary.wiley.com] […] icterus Cutaneous jaundice Dark urine Physical See the list below: Pruritus Scratching Cutaneous mutilation Irritability in infants Jaundice Scleral icterus Cutaneous jaundice Hepatomegaly[emedicine.medscape.com]

    Missing: Onset of Disease between 25 and 40 Years of Age
  • Mucolipidosis Type 1

    […] delay; and cherry-red spots (occur in 75%); and – Congenital form—Onset in utero, with hydrops fetalis and hepatomegaly; infants are either stillborn or die within months[medical-dictionary.thefreedictionary.com] Tests reveal abnormal enlargement of the liver ( hepatomegaly ) and spleen ( splenomegaly ) and extreme abdominal swelling.[en.wikipedia.org] Children with sialidosis type II may develop an abnormally enlarged liver (hepatomegaly) and/or spleen (splenomegaly), a specific assortment of bone deformities known as dysostosis[rarediseases.org]

    Missing: Onset of Disease between 25 and 40 Years of Age

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