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68 Possible Causes for Hepatomegaly, Postural Defect, Seizure

  • 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[] […] neurologist as idiopathic epileptic seizure or epilepsy due to cerebrovascular disorder.[]

  • 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[] A previously healthy girl, age 3 years 9 months, presented with right-sided hemiparesis and seizures.[] 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[]

  • 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.[] However, seizures can also occur without metabolic decompensation.[]

  • Amyloidosis

    Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level.[] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[] […] leading to loss of efficacy or toxicity Where concurrent use of an enzyme-inducing antiepileptic cannot be avoided, monitor antiepileptic serum levels for toxicity, as well as seizure[]

  • Polycythemia Neonatorum

    […] increased urobilin from increased amount of bilirubin Nonhemolytic State Jaundice Accumulation of unconjugated bilirubin Ecchymosis/hemorrhage Birthing trauma Ruddy complexion, hepatomegaly[] Neurological system: symmetry of movement, muscle tone, posture, strength, grasp reflex, suck reflex, Moro reflex, response to being handled.[] Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures[]

  • 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[] Other tests carried out include audiometry to determine sensorineural hearing loss, electroencephalography to look through any seizure activities and electroretinography to[] Increased tone/spasticity, hyper- or hyporeflexia, abnormal gait or inability to walk, ataxia, incontinence, tremor, abnormal or absent speech, seizures, weak cry/poor feeding[]

  • 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.[] Signs and symptoms of this form may include lack of energy and appetite, poorly-controlled breathing rate and body temperature, unusual body movements, seizures , or coma.[]

  • Infantile Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] Postural unsteadiness is evident when patients begin walking.[] Multiple signs and symptoms of IRD begin in infancy and progress through early childhood, including hearing and visual impairment, intellectual and growth impairment, seizures[]

  • Transient Hyperammonemia of the Newborn

    Infant becomes floppy, FTT, hepatomegaly, macroglossia at 1 month Noted cardiomegaly and hard muscles on exam Type 2 glycogen storage Pompe Diagnosis?[] Diagnosis Often the clinical appearance of urea cycle defects mimics that of other inborn errors of metabolism.[] […] preterm newborn infant, who develops the signs of respiratory distress syndrome in the first hours of life, along with the symptoms of hyperammonemia (lethargy, hypotonia, seizures[]

  • 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.[] Macrocephaly in children with diabilities, even when not associated with hydrocephalus, is associated with an increased risk of seizures.[]

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