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16 Possible Causes for Apathy, Hepatomegaly, Postural Defect

  • Parkinson's Disease

    Apathy was identified in 31.6%; apathy without depression was present in 33.3% of patients.[ncbi.nlm.nih.gov] 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[doi.org] Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, akinesia, and postural instability ( 1 ).[doi.org]

  • Amyloidosis

    In: Amyloid and Amyloidosis: The Proceedings of the IXth International Symposium on Amyloidosis, Budapest, David Apathy, 2001, pp 116 –118 Ericzon BG, Larsson M, Herlenius[jasn.asnjournals.org] Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level.[ncbi.nlm.nih.gov] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[flybase.org]

  • Infantile Refsum Disease

    The initial abnormalities are apathy and behavioral change.[neuropathology-web.org] Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[ncbi.nlm.nih.gov] Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu]

  • Macrocephaly

    Abstract Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1 ).[doi.org] Clinically, the patient presented with extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism and polycystic ovarian syndrome (PCOS), which have previously not been[ncbi.nlm.nih.gov] The affected child lies in a particular position termed a “Pretzel-like posture.” Atrial septal defect is reported in one-third of the patients.[ncbi.nlm.nih.gov]

  • Congenital Isolated ACTH Deficiency

    Other symptoms include nausea and vomiting, abdominal pain, diarrhea, weakness, weight loss, apathy and confusion.[clinicaladvisor.com] All those with a mutation and only one patient without one suffered from hypoglycemia; the two groups differed in the frequency of cholestatic jaundice associated with hepatomegaly[journals.plos.org] Isolated defects of aldosterone biosynthesis are rare, but partial defects are an aspect of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.[enotes.tripod.com]

  • Inherited Congenital Spastic Tetraplegia

    Leukoencephalopathy Cerebral cortical atrophy Developmental regression Sensorineural hearing impairment Hearing impairment Coma Hallucinations Hypoglycemia Absent speech Apathy[mendelian.co] […] resulting from defects in the developing central nervous system.[genecards.org] […] leukoencephalopathy Rieger anomaly Right hemiplegia Retinal arterial tortuosity Heterogeneous Respiratory distress Kyphosis Hypertension Polycoria Posterior leukoencephalopathy Hepatomegaly[mendelian.co]

  • Ataxia

    Affected individuals endorsed symptoms of depression that reach moderate-to-severe levels, as well as apathy.[doi.org] Consequently, patients may develop splenomegaly and hepatomegaly as well as ataxia.[pn.bmj.com] Cerebellar lesion Signs or Function Posterior (Flocculo-nodular lobe; Archicerebellum) Eye movement disorders: Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction[neuromuscular.wustl.edu]

  • Tibia Varum

    […] ligamentous laxity, flattening of skull, enlargment of the costal cartilages (rachitic rosary), and dorsal kyphosis characterize this disorder; - personality: - children may show apathy[wheelessonline.com] […] descriptions kindly provided by Michael Wall, MD, Department of Ophthalmology and Visual Sciences, Carver School of Medicine, University of Iowa.) 46 FIGURE 2 Scratch test for hepatomegaly[pediatrics.aappublications.org] Causes of Genu Varum Among children: Birth defect Postural abnormality Developmental defect Rickets Hormonal disorders Among aged people: Degenerative disorders like osteoarthritis[blog.portea.com]

  • Chronic Progressive External Ophthalmoplegia

    […] tremor, postural instability, rigidity and bradykinesia, and non-motor symptoms like fatigue, depression, anxiety, sleep and autonomic disturbances, decreased motivation, apathy[doi.org] ., hepatomegaly ) Diagnosis Observation of cystine crystals in the cornea during slit lamp examination Progressive GFR Hypokalemia, hyponatremia, metabolic acidosis Confirmed[amboss.com] Besides, the patient adopts a defective head posture for proper viewing.[jemds.com]

  • Mitochondrial Myopathy

    Weakness, lethargy, and apathy may be present early.[disorders.eyes.arizona.edu] Diabetes mellitus Cardiac arrhythmias Acid maltase deficiency or glycogen storage disorder type 2 Approximately 1 in 40,000 newborns Proximal girdle weakness Macroglossia, hepatomegaly[clevelandclinicmeded.com] She developed generalized posturing in the postoperative period indicative of significant CNS dysfunction.[mhaus.org]

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