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Thyro-Cerebro-Renal Syndrome

Thyrocerebral-Retinal Syndrome


Presentation

  • The sister presented at one year of age with evidence of renal disease (BUN 35 mg/dl). At age 9 neurological deterioration, muscle wasting, ataxia and myoclonus developed.[nature.com]
  • Ilona Frieden presents "Facing a diagnosis of PHACE syndrome" Dr. Elena Pope presents "PHACE(s) Syndrome: 5 things you need to know" Dr. Dawn Siegel presents "Investigations into the cause of PHACE Syndrome" Dr.[chw.org]
  • Snapshot A 48-year-old female presents to the emergency room with mental status changes.[medbullets.com]
  • It is essential to differentiate the syndrome from SIADH as the management of both conditions is drastically different but their presenting features overlap.[ncbi.nlm.nih.gov]
  • Three red cells were present in the first collection tube, none in the third; no white blood cells were present.[dartmouth.edu]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • She is board certified in internal medicine and is certified by the American Board of Obesity Medicine and American Board of Physician Nutrition Specialists as a Physician Nutrition Specialist. Dr.[my.clevelandclinic.org]
  • Employees Volunteer Services Philanthropy Contact Us Disclaimer: The information on this website is for general informational purposes only and SHOULD NOT be relied upon as a substitute for sound professional medical advice, evaluation or care from your physician[wakehealthse3.adam.com]
  • […] of India Life member Lung society of India Fellow of the American college of chest physicians Life member Indian National College of Chest Physicians See More DR.[delhi.apollohospitals.com]
Multiple Congenital Anomalies
  • congenital anomalies-hypotonia-seizures syndrome PS614080 Multiple endocrine neoplasia PS131100 Multiple mitochondrial dysfunctions syndrome PS605711 Multiple sclerosis, susceptibility to PS126200 Multiple synostoses syndrome PS186500 Muscular dystrophy[omim.org]
Hearing Impairment
  • Related symptoms: Autosomal recessive inheritance Global developmental delay Short stature Hearing impairment Microcephaly SOURCES: UMLS MONDO OMIM More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED Low match FANCONI ANEMIA,[mendelian.co]
  • Impairments, Meniere's Disease and Tinnitus.[ribbonsforareason.com]
  • The optic nerves swell and become damaged DeGrouchy’s Syndrome A person who has DeGrouchy’s will have a short stature, hypotonia (lack of muscle tone), hearing impairment, and foot abnormalities.[tsbvi.edu]
  • The craniofacial FD in this case continued to advance during the patient's third and fourth decade, with deformity leading to monocular blindness and hearing impairment.[academic.oup.com]
Hearing Impairment
  • Related symptoms: Autosomal recessive inheritance Global developmental delay Short stature Hearing impairment Microcephaly SOURCES: UMLS MONDO OMIM More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED Low match FANCONI ANEMIA,[mendelian.co]
  • Impairments, Meniere's Disease and Tinnitus.[ribbonsforareason.com]
  • The optic nerves swell and become damaged DeGrouchy’s Syndrome A person who has DeGrouchy’s will have a short stature, hypotonia (lack of muscle tone), hearing impairment, and foot abnormalities.[tsbvi.edu]
  • The craniofacial FD in this case continued to advance during the patient's third and fourth decade, with deformity leading to monocular blindness and hearing impairment.[academic.oup.com]
Slurred Speech
  • The brother is 13 years old and has interstitial nephritis (two biopsies), slurred speech, headaches, thrombocytopenia, an abnormal EEC and goiter. Supported in part by The John W. Champion Center.[nature.com]
  • Neurological disturbances are often reported with deafness, slurred speech, a gruff husky voice, muscle cramps and muscle weaknesses and carpal tunnel syndrome at the wrists.[alzheimer-europe.org]
  • Case presentation In May 2008, a 71-year-old Caucasian, German woman was referred to our hospital presenting with weakness, somnolence, confusion and slurred speech.[jmedicalcasereports.biomedcentral.com]
  • speech Cortical gyral simplification Long nose Truncal obesity Bilateral cryptorchidism Sensory axonal neuropathy Broad-based gait Abnormality of the liver Abnormality of the foot Postural tremor Hypopigmented skin patches Multiple cafe-au-lait spots[mendelian.co]

Workup

  • Surgical history of thyroidectomy for thyroid cancer, on admission, metabolic workup revealed hypernatremia, acute kidney injury and abnormal thyroid functional tests. Lithium level was 2.7 mEq/L.[oatext.com]
  • On admission, his laboratory workup showed a serum sodium of 130 mEq/l (reference range: 135-145 mEq/l), uric acid of 1.4 mg/dl (reference range: 3.4-7 mg/dl) while the rest of his electrolytes were normal and viral markers were negative.[ncbi.nlm.nih.gov]
  • GT carried out and interpreted the neurological workup. AL coordinated the medical and endocrinological workup. All authors read and approved the final manuscript. Competing interests The authors declare that they have no competing interests.[journalbipolardisorders.springeropen.com]
  • Diagnostic workup After a thorough history and physical exam, an electrocardiogram (ECG) should be obtained. Blood work should be obtained when metabolic diseases or anemia are suspected.[clevelandclinicmeded.com]
  • (See Presentation and Workup.)[emedicine.medscape.com]
Hyperprolactinemia
  • Addition of cabergoline to that of lanreotide Autogel successfully controlled IGF-1 (but not GH) and hyperprolactinemia.[academic.oup.com]

Treatment

  • […] approved for the treatment of metastatic medullary thyroid carcinoma.[ascopost.com]
  • […] will need to have their treatment reduced or interrupted because of toxicity.[nps.org.au]
  • "Treatment options for hyponatremia in heart failure". Heart Fail Rev. vol. 14. 2009. pp. 65-73. Huang, EA, Feldman, BJ, Schwartz, ID. "Oral urea for the treatment of chronic syndrome of inappropriate antidiuresis in children".[cancertherapyadvisor.com]

Prognosis

  • Prognosis varies by cause. Complete remissions may occur spontaneously or with treatment. The prognosis generally is favorable in corticosteroid-responsive disorders.[merckmanuals.com]
  • The prognosis (outlook) with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.[medicinenet.com]
  • Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376}[amboss.com]
  • These changes are associated with disease severity and have been connected with poor short-term prognosis.[thetrp.net]

Etiology

  • A consistent chapter organization covers each disease’s incidence, epidemiology, etiology, and histopathology — as well as molecular biology, clinical features, diagnostic studies, and current clinical and pathologic staging — providing all the assistance[books.google.es]
  • Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes[amboss.com]
  • Table 3 lists clinical features suggesting specific etiologies. 2 Table 3: Clinical Features Suggesting Specific Etiologies Reflex syncope Absence of heart disease Longstanding and recurrent syncope After unexpected pain, smell or sight After prolonged[clevelandclinicmeded.com]
  • In cases of irreversible encephalopathy without a clear etiology consider lithium toxicity for those patients on Lithium therapy even if the lithium level is normal.[oatext.com]
  • (See Pathophysiology, Etiology, and Presentation.)[emedicine.medscape.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • A consistent chapter organization covers each disease’s incidence, epidemiology, etiology, and histopathology — as well as molecular biology, clinical features, diagnostic studies, and current clinical and pathologic staging — providing all the assistance[books.google.es]
  • The authors review their contribution in two relevant, epidemiological type of studies.[intechopen.com]
  • Epidemiology of metabolic syndrome in Menoufia University students6. Seroprevalence of Helicobacter pylori infection among school children in Al Qulubia governorateORIGINAL ARTICLE1.[mmj.eg.net]
  • This comprehensive meta–analysis provides epidemiological evidence supporting the associations between SLE and cancer risk. BMC Journals, Arthritis Research & Therapy, 12/06/2018.[sclero.org]
Sex distribution
Age distribution

Pathophysiology

  • (See Pathophysiology, Etiology, and Presentation.)[emedicine.medscape.com]
  • "Cerebral salt wasting: pathophysiology, diagnosis, and treatment". Neurosurg Clin N Am . 21 (2): 339–52. doi : 10.1016/j.nec.2009.10.011 . PMID 20380974 . Peters JP, Welt LG, Sims EA, Orloff J, Needham J (1950).[en.wikipedia.org]
  • Cerebral salt wasting: pathophysiology, diagnosis, and treatment. Neurosurg Clin N Am 2010;21:339–352. PMID: 20380974 . 9. Saleh M. Sepsis-associated renal salt wasting: how much is too much? BMJ Case Rep 2014;1 9 [Epub].[e-apem.org]
  • Dear Editor, The functional relationship between thyroid and kidneys has been described since the mid-twentieth century 1 and has been the subject of many publications with differing pathophysiologic approaches. 2-5 Here we present the case of a patient[revistanefrologia.com]
  • Morbidity is particularly high in the elderly, and is associated with loss of confidence, fear of falling, depression, fractures, and institutionalization. 2 Back to Top Physiology and Pathophysiology The pathophysiology of syncope involves the interaction[clevelandclinicmeded.com]

Prevention

  • Metabolic defects prevent the body from properly breaking down food to create energy.[m.kidshealth.org]
  • Above all, this means preventing or repairing muscle contractures. These are less likely if you exercise the affected limb as much as possible. Physical therapy aims to prevent contractures and poor growth caused by atrophy.[medbroadcast.com]
  • Vaccination and autoimmune diseases: is prevention of adverse health effects on the horizon? EPMA J. 2017;8(3):295-311. DOI: 10.1007/s13167-017-0101-y.[verywell.com]
  • Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications.[amboss.com]
  • Close monitoring of hypertonic saline is essential to prevent overly rapid correction of hyponatraemia, which might result in osmotic myelinolysis.[edmcasereports.com]

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