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Nguyen Syndrome

MCA/MR Syndrome with Hypocholesterolemia due to Familial Hypobetalipoproteinemia


  • […] is present unilaterally.[eyewiki.org]
  • Poor visual acuity at presentation : better VA at presentation is associated with a better final VA [ 162 ]. Chee et al. proposed that good VA at one month was associated with greater likelihood of good VA at 3 years [ 121 ].[ojrd.biomedcentral.com]
  • Bronchiectasis may be present, although this is not a universal finding 5. MRI MR angiography (MRA) may show a small pulmonary artery with diminished vascularity in the periphery 8.[radiopaedia.org]
  • Children with isolated Horner's syndrome may present when parents notice a difference in eye color or impaired facial flushing.[eyewiki.aao.org]
  • Cushing's disease presenting with gastrointestinal perforation: a case report. Endocrinol Diabetes Metab Case Rep. 2013. 2013:130064. [Medline]. Graham BS, Tucker WS Jr. Opportunistic infections in endogenous Cushing's syndrome.[emedicine.medscape.com]
  • This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis.[rarediseases.org]
  • […] and Endocrine Disorders Institute, Department of Internal Medicine, Eastern Virginia Medical School Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians[emedicine.medscape.com]
  • Functional assessment included: physician's and parent's global assessment of disease activity (with a 100-mm visual analogue scale -VAS, in which higher scores indicated more active disease); Disability Index score in Childhood Health Assessment Questionnaire[tmj.ro]
Weight Gain
  • Fast food consumption and increased caloric intake: a systematic review of a trajectory towards weight gain and obesity risk. Obes Rev 2008;9(6):535-47. Malik VS, Schulze MB, Hu FB.[jurnal.ugm.ac.id]
  • Individuals often complain of proximal muscle weakness, easy bruising, weight gain, hirsutism, and, in children, growth retardation. Hypertension, osteopenia, diabetes mellitus, and impaired immune function may occur.[emedicine.medscape.com]
Developmental Delay
  • delay, or behavioral problems. [6] [28] [29] [30] Developmental delay, mental retardation, and headaches occur in approximately 50% of patients with SWS. [25] [30] [31] In addition, approximately 30% of patients will be severely mentally handicapped.[eyewiki.org]
  • Certain secondary (permanent) teeth may not develop (erupt) or may erupt late; those permanent teeth that do develop are usually malformed (dysplastic). In some patients, permanent teeth may also be lost prematurely.[rarediseases.org]
  • Central or preganglionic lesions tend to produce more noticeable anhidrosis. The sudomotor and vasomotor fibers to most of the face separate out at the superior cervical ganglion and anhidrosis is often not noticeable in postganglionic lesions.[eyewiki.aao.org]
Cranial Neuropathy
  • Cranial neuropathy (single or multiple cranial nerves) can be produced by lesions in the cavernous sinus or base of skull Other signs Anhidrosis : Variable degree of loss of sweating can be seen depending on the site of lesion.[eyewiki.aao.org]
  • Horner’s syndrome (also called oculosympathetic paresis, or Horner syndrome) comprises a constellation of clinical signs including the classic triad of ptosis, miosis and anhidrosis.[eyewiki.aao.org]


  • Since these patients are usually refractory to medical therapy, other treatment options have been used.[eyewiki.org]
  • Restoration of a dual-coronary-artery system is the ideal surgical treatment for ALCAPA syndrome. (c) RSNA, 2009.[ncbi.nlm.nih.gov]
  • IgM RF and anti-CCP antibody are not reliable markers in appreciation of disease activity or treatment response.[tmj.ro]
  • New guidelines address Cushing’s syndrome treatment. Medscape Medical News. Available at . Aug 5,2015; Accessed: Sept 3, 2015. Aymes S. Endocrine Society releases guidelines on treatment of Cushing’s Syndrome. Endocrinology Advisor. Aug 26, 2015.[emedicine.medscape.com]
  • Related to treatment: a.. Late instauration of treatment from the acute disease onset : early treatment with high-dose systemic corticosteroids resulted in less persistent inflammation [ 176 ]; b..[ojrd.biomedcentral.com]


  • Prognosis is favorable if surgery is curative. The rare adrenocortical carcinomas are associated with a 5-year survival rate of 30% or less.[emedicine.medscape.com]
  • Follow up Follow up of Horner’s syndrome depends on the etiology of Horner’s syndrome Prognosis Prognosis depends on the etiology of Horner’s syndrome AAO, Basic and Clinical Science Course. Section 5: Neuro-ophthalmology, 2015-2016.[eyewiki.aao.org]
  • Some factors have been described as indicative of prognosis: I. Related to treatment: a..[ojrd.biomedcentral.com]
  • Patients with SWS have a lower life expectancy than does the general population. [26] When the leptomeningeal lesions are bilateral, patients usually have more severe neurological manifestations and a worse prognosis.[eyewiki.org]


  • Etiology The etiology of Horner’s syndrome varies with the patient age and site of lesion. The etiology remains unknown in 35-40% of cases.[eyewiki.aao.org]
  • Exogenous use of glucocorticoids should always be considered and excluded in the etiology of Cushing syndrome. This article focuses on endogenous Cushing syndrome.[emedicine.medscape.com]
  • Juvenile idiopathic arthritis consists of a heterogeneous group of disorders with unknown etiology, and a lack of reliable biomarkers complicates diagnosis. The disease course is unpredictable, with no single marker able to monitor disease.[tmj.ro]
  • Pathogenesis The exact etiology of VKHD is still a matter of enquiry.[ojrd.biomedcentral.com]


  • The new pig disease: epidemiology and production losses in the Netherlands. In: Report of a Seminar on the New Pig Disease (PRRS). Brussels, Belgium, 1991: 9–19. (24) Tisdell CA.[slovetres.si]
  • ICD-9 337.9 Epidemiology In a population based study of Horner’s syndrome in the pediatric age group, the incidence of Horner’s syndrome was estimated to be 1.42 per 100 000 patients younger than 19 years, with a birth prevalence of 1 in 6250 for those[eyewiki.aao.org]
  • Ectopic CRH secretion leading to increased ACTH secretion comprises a very rare group of cases of Cushing syndrome. [4] Epidemiology Identifying the exact incidence of Cushing syndrome is challenging because patients can present with a wide spectrum from[emedicine.medscape.com]
  • Oligoarticular and polyarticular JIA: epidemiology and pathogenesis. Nat Rev Rheumatol 2009 Nov;5(11):616-26. 23. Barnes MG, Grom AA, Thompson SD, et al.[tmj.ro]
  • The current review discusses the general features of VKHD, including epidemiology, classification into categories, differential diagnosis and current therapeutic approaches.[ojrd.biomedcentral.com]
Sex distribution
Age distribution


  • Pathophysiology and clinical consequences of Raynaud’s phenome non related to systemic sclerosis. Rheumatology. 2006;45:iii33–iii35. 16. Sheehan NJ. Dysphagia and other manifestations of oesophageal involvement in the musculoskeletal diseases.[jku.unram.ac.id]
  • Overweight in children and adolescents, pathophysiology, consequence, prevention, and treatment. Circulation 2005;111:1999-2012. Suryaputra K, Nadhiroh SR. Perbedaan pola makan dan aktivitas fisik antara remaja obesitas dengan non obesitas.[jurnal.ugm.ac.id]
  • Pathophysiology Horner's syndrome results from a lesion to the sympathetic pathways that supply the head and neck, including the oculosympathetic fibers. Relevant anatomy The pupil is innervated by sympathetic and parasympathetic fibers.[eyewiki.aao.org]
  • Pathophysiology Endogenous glucocorticoid overproduction or hypercortisolism that is independent of ACTH is usually due to a primary adrenocortical neoplasm (most commonly an adenoma and rarely a carcinoma).[emedicine.medscape.com]
  • Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 2011;17:179-84. Schirmer.[eyewiki.org]


  • Primary prevention Prevention strategies depend on the etiology of Horner’s syndrome. These may include prevention of trauma (especially head trauma), control of cardiovascular risk factors and smoking cessation.[eyewiki.aao.org]
  • Intermittent intravenous immunoglobulin successfully prevents relapses of neuromyelitis optica. Intern Med 2007 ; 46: 1671 – 1672. Google Scholar Medline 17. Kronbichler, A, Brezina, B, Quintana, LF.[journals.sagepub.com]
  • Overweight in children and adolescents, pathophysiology, consequence, prevention, and treatment. Circulation 2005;111:1999-2012. Suryaputra K, Nadhiroh SR. Perbedaan pola makan dan aktivitas fisik antara remaja obesitas dengan non obesitas.[jurnal.ugm.ac.id]
  • ., tropicamide 1.0 % eyedrops) to reduce ciliary spasm and prevent posterior synechiae, are most frequently used [ 1 ].[ojrd.biomedcentral.com]

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