Metabolic Encephalopathy

Author(s):  
Jennifer C. Gidley Larson ◽  
Yana Suchy
2021 ◽  
Vol 15 (1) ◽  
Author(s):  
T. M. Skipina ◽  
S. Macbeth ◽  
E. L. Cummer ◽  
O. L. Wells ◽  
S. Kalathoor

Abstract Introduction Acute encephalopathy, while a common presentation in the emergency department, is typically caused by a variety of metabolic, vascular, infectious, structural, or psychiatric etiologies. Among metabolic causes, hyperammonemia is relatively common and typically occurs in the setting of cirrhosis or liver dysfunction. However, noncirrhotic hyperammonemia is a rare occurrence and poses unique challenges for clinicians. Case presentation Here we report a rare case of a 50-year-old Caucasian female with history of bladder cancer status post chemotherapy, radical cystectomy, and ileocecal diversion who presented to the emergency department with severe altered mental status, combativeness, and a 3-day history of decreased urine output. Her laboratory tests were notable for hyperammonemia up to 289 μmol/L, hypokalemia, and hyperchloremic nonanion gap metabolic acidosis; her liver function tests were normal. Urine cultures were positive for Enterococcus faecium. Computed tomography imaging showed an intact ileoceal urinary diversion with chronic ileolithiasis. Upon administration of appropriate antibiotics, lactulose, and potassium citrate, she experienced rapid resolution of her encephalopathy and a significant reduction in hyperammonemia. Her hyperchloremic metabolic acidosis persisted, but her hypokalemia had resolved. Conclusion This case is an example of one of the unique consequences of urinary diversions. Urothelial tissue is typically impermeable to urinary solutes. However, when bowel segments are used, abnormal absorption of solutes occurs, including exchange of urinary chloride for serum bicarbonate, leading to a persistent hyperchloremic nonanion gap metabolic acidosis. In addition, overproduction of ammonia from urea-producing organisms can lead to abnormal absorption into the blood and subsequent oversaturation of hepatic metabolic capacity with consequent hyperammonemic encephalopathy. Although this is a rare case, prompt identification and treatment of these metabolic abnormalities is critical to prevent severe central nervous system complications such as altered mental status, coma, and even death in patients with urinary diversions.


2019 ◽  
Author(s):  
Rick Gill ◽  
Matthew McCoyd ◽  
Sean Ruland ◽  
José Biller

Normal neurologic function requires a constantly balanced environment of electrolytes.  Normal hepatic and renal function is critical in maintaining this balance while removing toxins, maintaining a physiologic pH and regulating the excretion of electrolytes.  Nutritional intake provides essential nutrients but deficiencies can lead to characteristic syndromes such as Wernicke's encephalopathy and pellagra and exposure to neurotoxic substances such as heavy metals can lead to encephalopathy.  Thyroid and adrenal dysfunction are common endocrine causes of encephalopathy and symptoms can often improve rapidly with treatment.  A subset of idiopathic encephalopathy is increasingly being recognized as having an autoimmune basis, often presenting as a paraneoplastic process, and having a constellation of symptoms which can aide in the diagnosis.  Timely recognition and treatment of the autoantibodies which target neural structures, with immunosuppressive therapy, can improve outcome in these patients.   This review contains 4 figures, 3 tables, and 42 references. Key words: osmotic demyelination syndrome,hepatic encephalopathy, renal failure, triphasic waves, dialysis disequilibrium syndrome, Wernicke encephalopathy, Korsakoff syndrome, myxedema coma, Hashimoto encephalopathy


2019 ◽  
Author(s):  
Rick Gill ◽  
Matthew McCoyd ◽  
Sean Ruland ◽  
José Biller

Normal neurologic function requires a constantly balanced environment of electrolytes.  Normal hepatic and renal function is critical in maintaining this balance while removing toxins, maintaining a physiologic pH and regulating the excretion of electrolytes.  Nutritional intake provides essential nutrients but deficiencies can lead to characteristic syndromes such as Wernicke's encephalopathy and pellagra and exposure to neurotoxic substances such as heavy metals can lead to encephalopathy.  Thyroid and adrenal dysfunction are common endocrine causes of encephalopathy and symptoms can often improve rapidly with treatment.  A subset of idiopathic encephalopathy is increasingly being recognized as having an autoimmune basis, often presenting as a paraneoplastic process, and having a constellation of symptoms which can aide in the diagnosis.  Timely recognition and treatment of the autoantibodies which target neural structures, with immunosuppressive therapy, can improve outcome in these patients.   This review contains 4 figures, 3 tables, and 42 references. Key words: osmotic demyelination syndrome,hepatic encephalopathy, renal failure, triphasic waves, dialysis disequilibrium syndrome, Wernicke encephalopathy, Korsakoff syndrome, myxedema coma, Hashimoto encephalopathy


Author(s):  
Jianmei Yang ◽  
Jianjun Xiu ◽  
Yan Sun ◽  
Fan Liu ◽  
Xiaohong Shang ◽  
...  

Abstract Background Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched-chain α-ketoacid dehydrogenase complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. This study presents the clinical and molecular characterizations of four MSUD patients. Methods Clinical data of patients were retrospectively analyzed, and genetic mutations were identified by whole-exome sequencing. CLUSTALX was employed to analyzed cross-species conservation of the mutant amino acid. The impact of the mutations was analyzed with PolyPhen-2 software. The I-TASSER website and PyMOL software were used to predict the protein three-position structure of the novel mutations carried by the patients. Results Vomiting, irritability, feeding difficulties, seizures, dyspnoea, lethargy and coma were the main clinical presentations of MSUD. Cranial MRI showed abnormal symmetrical signals in accordance with the presentation of inherited metabolic encephalopathy. Seven mutations were detected in four patients, including three novel pathogenic mutations in the BCKDHA (c.656C>A), BCKDHB (deletion of a single-copy of BCKDHB) and DBT (c.1219dup) genes. Structural changes were compatible with the observed phenotypes. Conclusions Different types of MSUD can display heterogeneous clinical manifestations. Exhaustive molecular studies are necessary for a proper differential diagnosis. The newly identified mutation will play a key role in the prenatal diagnosis of MSUD in the future.


Author(s):  
Bruce J. Diamond ◽  
Joseph E. Mosley ◽  
Keith Happawana

Author(s):  
Jennifer C. G. Larson ◽  
Rosemary Ziemnik ◽  
Yana Suchy

Author(s):  
Jennifer C. G. Larson ◽  
Rosemary Ziemnik ◽  
Yana Suchy

Author(s):  
Michael M. Morgan ◽  
MacDonald J. Christie ◽  
Thomas Steckler ◽  
Ben J. Harrison ◽  
Christos Pantelis ◽  
...  

2014 ◽  
pp. 627-642
Author(s):  
Jorge S. Sasbón ◽  
Hugo Arroyo

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A971-A972
Author(s):  
Yumna Hamid ◽  
Steven Douedi ◽  
Johnathan Nold ◽  
Raquel Kristin Ong ◽  
Jennifer Cheng ◽  
...  

Abstract Background: Myxedema coma is a severe manifestation of hypothyroidism that typicallypresents with altered mental status and requires close monitoring in the intensive care unit dueto 30-60% mortality rate. Clinical Case: A 56 year old white male with type 1 diabetes with recurrent DKA, polysubstanceabuse, Bipolar disorder on lithium and post surgical hypothyroidism presented due to change inmental status after being brought in by sister. Patient was found to be lethargic with confusionthat worsened over the last week. The patient was admitted several times in the past monthsecondary to pneumonia, sepsis, and recurrent DKA. On physical examination, he found to have lethargy, macroglossia, hyporeflexia, and periorbitaledema. Patient had acute respiratory failure with metabolic encephalopathy, bradycardia,tachypnea, severe hyperglycemia, hypotension of 77/51, tachypnea of 31 breaths per minuteand hyponatremia. Laboratory findings showed T4 levels 2.87(n=5.28-9.87ug/dL) withundetectable FT4 and elevated TSH (>50, n=0.300-4.500uIU/mL). Electrolyte panel showedhyponatremia (133, n=136-145mmol/L), hyperglycemia up to 532mg/dL and lithium levels werewithin normal limits (n=0.5-1.5 mmol/L). Urine drug screen was positive for cocaine. A CT scanof the head was negative. His myxedema score was diagnostic (>60). The patient wasdiagnosed with myxedema coma and admitted to the ICU. Patient was treated with IV LT4 400mcg, LT3 10mcg and hydrocortisone 100mg and started onIV LT4 100mcg daily, LT3 2.5mcg daily and hydrocortisone 100mg Q8 hours. There was wideglycemic variation from 46-532 mg/dL on POCT. The patient improved clinically, with resolutionof lethargy, confusion, fatigue, improved appetite, and improved lab work of FT3 2.30 (n=2.28-3.96pg/mL), FT4 at 0.76 (n=0.50-1.26ng/dL) and was downgraded from the ICU. On hospitalday four, he was transitioned to oral levothyroxine and discharged home. Conclusion: It is important to diagnose early and promptly manage decompensatedhypothyroidism in the setting of other comorbidities such as hyperglycemia in diabetes andpolysubstance abuse. The cocaine in the system may cause tachypnea and tachycardia. Manyconditions may have altered mental status, but with a history of hypothyroidism, Myxedemacoma should be on the differential due to its high mortality rate.


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