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26 Possible Causes for Cardiomegaly, Hepatomegaly, Postural Defect

  • Amyloidosis

    The chest radiograph did not show any evidence of acute disease or cardiomegaly.[] 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.[]

  • 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.[] We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly.[]

  • Singleton Merten Syndrome

    […] ribs craniosynostosis polysyndactyly Short stature abnormal skin pigmentation mental retardation Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[] Postural unsteadiness is evident when patients begin walking.[] Typical radiographic appearances include skeletal demineralization, expanded shafts of the metacarpals and phalanges with widenend medullary cavities, cardiomegaly, and intramural[]

  • 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.[] […] deficiency Bradycardia, breathing problems, hypokinetic hypoglycemia, muscle weakness, hyperammonemia, hepatomegaly, seizures, cardiomyopathy, SIDS Presents w/in hours of[]

  • 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[] MD was severe he was prescribed all medications for asthma but it dint help X ray revealed cardiomegaly Echo ECG Showed abnormal extra beats It was diagnosed as cardiac asthma[]

  • 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.[] 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[]

  • 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.[] Postero-anterior thoracic radiography shows pulmonary congestion and cardiomegaly, therefore echocardiography is indicated in affected babies.[]

  • 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.[] Surprisingly patients with straight back syndrome may have some findings in the Chest X ray: pancake appearance simulating cardiomegaly, levoposition of heart, prominence[]

  • Paradoxical Embolism

    Abdominal examination findings revealed massive hepatomegaly and ascites.[] In Patent foramen ovale is the most common cause of paradoxal embolism in cryptogenic stroke or platypnea-orthodeoxia syndrome (postural hypoxemia with breathlessness).[] The chest X-ray documented cardiomegaly due to enlargement of the right cardiac chambers ( Figure 2 ).[]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    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[] Cardiomegaly, hepatomegaly, and systemic findings, leading to early death.[]

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