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Hypothalamic Adipsic Hypernatraemia Syndrome


Presentation

  • The conference was held at the Winston Estate on July 13-14, 1987, and met our every expectation for a vigorous exchange of individual experiences and more importantly for a dialogue directed toward present and future expectations in the surgery of this[books.google.com]
  • At age 19 she presented with serum sodium of 185 mg/dl during an episode of illness associated with dehydration. After hydration, her sodium remained elevated.[nebraska.pure.elsevier.com]
  • […] cerebral malformation Normal Present Absent Normal Present Present Normal No no no 12 No cerebral malformation Normal Present Present Normal Present Present Thin Yes no no Patient No.[academic.oup.com]
  • Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst.[unboundmedicine.com]
  • The majority of children (83.3 %) presented with rapid weight gain during early childhood, while one child presented later at 9.5 years of age. The sequence of SDB phenotypes of each patient is shown in Fig. 1.[ojrd.biomedcentral.com]
Developmental Delay
  • Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst.[unboundmedicine.com]
  • These conditions include developmental delay, visual defects, seizures, sleep disorders, thermal regulation problems, feeding problems, and obesity/overweight.[academic.oup.com]
  • Case presentation The patient being described is a 56 year old male with cognitive developmental delay and anxiety who is sent from his assisted living facility with hypernatremia on routine labs and documented refusal to drink water.[f1000research.com]
Rigor
  • Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine.[books.google.com]
Muscle Rigidity
  • rigidity and tremor; signs of autonomic nervous system dysfunction such as pallor, tachycardia, arrhythmias, blood pressure lability, and diaphoresis; and changes in mental status, including mutism, delirium, and coma. 46 All antipsychotic medications[clinicalgate.com]
Jaundice
  • Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[books.google.com]
Loss of Initiative
  • […] and initial severe anorexia, followed by hyperphagia with an inability to maintain body weight.[karger.com]
Excitement
  • Bringing the leading figures in this area to New York for a roundtable conference was an exciting challenge. Professor Russel H. Patterson, Jr., generously consented to be our guest of honor.[books.google.com]
  • Causes of Diabetes Insipidus FAMILIAL ABNORMALITIES Studies have revealed exciting data regarding a variety of genetic abnormalities found on chromosome 20 in several kindreds with autosomal dominant hypothalamic diabetes insipidus.[medtextfree.wordpress.com]
Memory Impairment
  • Diencephalic symptoms were in the rank order of incidence, hyperphagia (61%), hyperthermia (55%), hypohidrosis (49%), memory impairment (43%), and adipsia (39%) followed by hypothermia (33%) and obesity with BMI 30 at 2-3 years post-op.[endocrine.org]
  • Avariety of audio-based memory aides were employed to managehis short-term memory impairment and improve compliancewith his fluid regime.[docslide.com.br]
Amnesia
  • Formal cognitive testing with the Galveston Orientation and Amnesia Test (GOAT) and the Montreal Cognitive Assessment (MoCA) demonstrated significant impairment (score of 58/100 and 21/30 respectively).[nzma.org.nz]
Ataxia
  • C or less over minutes to days, along with evidence of autonomic nervous system dysfunction, including flushing, sweating, hypotension, bradycardia, salivation, lacrimation, pupillary dilation, Cheyne-Stokes respiration, nausea, vomiting, asterixis, ataxia[clinicalgate.com]
Quadriplegia
  • Central pontine myelinolysis (CPM) presents with fatal outcomes - quadriplegia, pseudobulbar palsy, seizures, coma and death. Thus, it is very important to keep this grave complication in mind while correcting hyponatremia.[japi.org]
Renal Stone
  • Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[books.google.com]

Workup

  • Hypercalcemia workup • PTH 68. ??? 4/29/2014 68 69. Questions 4/29/2014 69 70. Thank You 4/29/2014 70[slideshare.net]

Treatment

  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Treatment varies based on the signs and symptoms present in each person and the severity of the condition.[checkorphan.org]
  • Plasma osmolality values returned to normal after treatment with forced hydration and a vasopressin analogue, desamino-D-arginine vasopressin.[unboundmedicine.com]
  • Treatment should be individualized for each patient and depend on DI severity and duration. DI is mild and transient in most cases and requires no specific treatment.[elsevier.es]
  • In the absence of treatment, it may even result in death. Read on to know all about the causes, symptoms, diagnosis and treatment of Hypernatremia.[primehealthchannel.com]

Prognosis

  • PMID: 11592577 Prognosis Kawamoto S, Hatanaka K, Imakita M, Tamaki T Intern Med 2013;52(10):1107-10.[ncbi.nlm.nih.gov]
  • Interest: None DOI: 10.4103/2230-8210.140240 Abstract Management of critically ill neurosurgical patients is often complicated by the presence or development of endocrinological ailments which complicate the clinical scenario and adversely affect the prognosis[ijem.in]
  • Diagnosis - ROHHAD syndrome Prognosis - ROHHAD syndrome The long-term outlook for people with ROHHAD varies. Children who are diagnosed early and appropriately managed can have a good quality of life.[checkorphan.org]
  • Hypernatremia Prognosis The prognosis of this disorder depends on the underlying condition. Acute Hypernatremia is more dangerous than normal Hypernatremia which develops over a period of time.[primehealthchannel.com]
  • Prognosis PTDI has been consistently linked to more severe trauma, cerebral edema, lower GCS scores and a higher mortality rate [ 26, 30 ].[mdpi.com]

Etiology

  • Etiology J Clin Endocrinol Metab 2016 Feb;101(2):635-43. Epub 2015 Nov 20 doi: 10.1210/jc.2015-3108. PMID: 26588450 Bergadá I, Aversa L, Heinrich JJ Horm Res 2004;61(3):108-10. Epub 2003 Dec 10 doi: 10.1159/000075374.[ncbi.nlm.nih.gov]
  • Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.[bioportfolio.com]
  • Assessment of the clinical circumstances and urine studies help determine the etiology, while management of hypernatremia involves fluid resuscitation and avoiding neurological complications from hypernatremia or its correction.[japi.org]
  • THOMPSON Definitions Diabetes Insipidus Etiology Clinical Features Differential Diagnosis Thirst in Hypothalamic Diabetes Insipidus Diabetes Insipidus and Pregnancy Treatment Hyperosmolar Syndromes Etiology Clinical Features Osmoregulatory Defects in[medtextfree.wordpress.com]
  • Etiology of Hypernatremia Three Main Mechanisms • Unreplaced water loss: most common • Water loss into cells • Sodium overload 4/29/2014 13 14.[slideshare.net]

Epidemiology

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.com]
  • Epidemiology Transient DI is a very common perioperative complication of pituitary surgery, but its incidence depends on the degree of clinical suspicion and the diagnostic criteria used.[elsevier.es]
  • Epidemiology of PTDI The pituitary gland, its vascular supply and the stalk are highly susceptible to trauma [ 17 ] and TBI has been frequently associated with anterior and/or posterior pituitary dysfunction [ 20, 21 ].[mdpi.com]
  • However, given the lack of standardized definitions and diagnostic tests as well as epidemiological studies of ROHHAD, the evolution and spectrum of abnormalities is unclear [ 2, 3 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]
  • […] last one two years after initial symptomatology,were normal.The forcing of fluids (1500 ml/day) resulted in clinical improvement,normalization of serum Na,BUN,Hb and platelets and the appearance of regular menses.Prolactin,LH,and FSH did not change.The pathophysiologic[nature.com]
  • The pathophysiology of this syndrome has still to be fully elucidated.[elsevier.es]
  • Pathophysiology of hyponatremia Renal water excretion depends on the diluting ability of the nephron.[japi.org]

Prevention

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.com]
  • A number of genes have been studied as a possible cause of the condition, but thus far, a disease-causing gene has not been identified Prevention - ROHHAD syndrome ROHHAD syndrome cannot be prevented.[checkorphan.org]
  • However, AVP secretion alone is not adequate to prevent dehydration and an intact thirst mechanism is vital for water homeostasis.[nephronpower.com]
  • Prevention Diabetes inspidus is often difficult or impossible to prevent, as it results either from genetic problems or other conditions. However, symptoms can be managed effectively. It is often a lifelong condition.[medicalnewstoday.com]
  • Awareness of VTE and increased morbidity and mortality are needed in patients with ADI since some of these potentially fatal comorbidities can be prevented.[hormones.gr]

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