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51 Possible Causes for Hepatomegaly, Hyperactivity, 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[] […] seizures from superior sagittal sinus thrombosis, bilateral downward subluxation of ocular lenses (ectopia lentis), Marfanoid habitus, osteoporosis, attention deficit and hyperactivity[] 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[]

  • 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[] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[] The parkinsonian state is characterized by disruption of the internal balance of the BG leading to hyperactivity in the two main entry points of the network (striatum and[]

  • Urea Cycle Disorder

    […] profile: Elevated plasma citrulline and glutamine, elevated urine argininosuccinate Clinical features: Episodic hyperammonemia, hepatic fibrosis, elevated liver enzymes, hepatomegaly[] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[] After 1 year of treatment, the autistic-like findings and hyperactivity were no longer apparent.[]

  • 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[] 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[] The clinical manifestations are variable but common features include vomiting, hyperactivity or lethargy, diarrhoea, poor feeding, seizures, hypotonia, delayed psychomotor[]

  • 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[] She had photosensitivity, lipoatrophy, bilateral peripheral neuropathy, and hyperactivity.[] His tendon stretch reflexes were hyperactive with sustained ankle clonus and Babinski’s signs until age 4 years, when he lost his ankle jerks and developed progressively severe[]

  • Disorder of Ornithine Metabolism

    Liver disease is common, and includes hepatomegaly, conjugated hyperbilirubinaemia, progression to cirrhosis and liver... ‏[] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[] They include: Avoiding foods high in protein or a dislike of meat Loss of appetite Nausea or vomiting Behavior problems, including hyperactivity Mental problems (confusion[]

  • Dysautonomia

    Hepatomegaly, spider nevi, caput medusae, parotid hypertrophy, Dupuytren contracture, and other features of alcoholism may suggest a concurrent ethanol/nutritional neuropathy[] However, the following have been identified and may be involved: Single gene defects. Accumulation of toxins. Autoantibodies.[] Wells, Paroxysmal Sympathetic Hyperactivity in Critically Ill Children with Encephalitis and Meningoencephalitis, Neurocritical Care, 23, 3, (380), (2015).[]

  • Noonan Syndrome

    Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation.[] Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[] Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical[]

  • Macrocephaly

    Clinically, the patient presented with extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been[] The affected child lies in a particular position termed a “Pretzel-like posture.” Atrial septal defect is reported in one-third of the patients.[] The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29.7%, oppositional defiant disorder[]

  • Autosomal Recessive Mental Retardation 3

    Stunted growth, hepatomegaly, hypoglycemia.[] 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[] Patients affected with MRT54 have been shown to have normal gross brain structure, but impaired cognition as well as hyperactivity.[]

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