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110 Possible Causes for Hepatomegaly, Postural Defect, Sudden Death

  • 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.[] Sudden deaths attributable to cardiac amyloidosis outside the operating room are not uncommon. 1,2,4–7 Between 1982 and 1986, 810 patients who had sudden cardiac deaths underwent[]

  • 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[] […] infant death syndrome, and congenital malformations, the last suggesting that the abnormal process affected fetal energy pathways.[]

  • Congenital Pericardium Anomaly

    Additional symptoms can include vomiting, diarrhea, abdominal pain, and an enlarged liver (hepatomegaly).[] Xenograft pericardioplasty[ 2 ] and defect enlargement by direct excision[ 8 ] have also been performed to treat symptomatic, partial defects of the right pericardium.[] death.[]

  • Severe Infantile Carnitine Palmitoyl Transferase II Deficiency

    Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.[] Clinical investigations may show postural tremor, reduced tendon reflexes, and elevated serum CK levels.[] We describe here a CPT II deficiency associating hypoketotic hypoglycemia, high plasma creatine kinase level, heart beat disorders, and sudden death in a 3-mo-old boy.[]

  • Innocent Cardiac Murmurs

    […] murmurs. cyanosis or clubbing abnormal breathing (tachypnoea, intercostal recession) failure to thrive abnormal pulses - diminished or absent femorals abnormal cardiac impulse hepatomegaly[] Investigations If the GP understands how a typical Still's murmur sounds and how to make it vary with posture then more serious pathology will rarely be missed.[] Hepatomegaly Poor peripheral pulses Poor peripheral pulses Low oxygen saturations Elevated jugular venous pressure (JVP) Faltering growth (growth chart) Pedal oedema Basal[]

  • Cardiac Asthma

    Typical signs: tachycardia, tachypnoea, pulmonary rales, pleural effusion, raised jugular venous pressure (JVP), peripheral oedema, hepatomegaly.[] Patients with chronic CHF and orthopnea have a considerable increase in airflow resistance upon adopting the supine posture associated with supine expiratory flow limitation[] If not properly managed there can be sudden death following life threatening asthma attacks or respiratory failure.[]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[] Cardiac abnormalities have also been reported, including cardiomyopathy and conduction disturbances, and may be responsible for causes of sudden death in RD [ 10 ].[]

  • 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.[] death attributable to XPA.[]

  • 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.[] death.[]

  • 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.[] The National Urea Cycle Disorders Foundation reports that up to 20 percent of deaths caused by sudden infant death syndrome may be caused by a metabolic issue like urea cycle[]

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