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TANGO2-Related Metabolic Encephalopathy and Arrhythmias

Presentation

Non-Acute Presentation Table 5. [ncbi.nlm.nih.gov]

CASE PRESENTATION: We report the first case of anti-NMDAR encephalitis in a 9-year-old girl presenting with TWs on EEG. The TWs background EEG lasted for about 12 h on the 40th day of the disease course. [pesquisa.bvsalud.org]

Gastrointestinal

  • Intermittent Dysphagia

    Profound episodic muscle weakness Ataxia Disorientation Coma Intermittent dysphagia Cardiac arrhythmias Developmental delay Intellectual disability Regression of motor and cognitive skills Poor coordination and unsteady gait Dysarthria Myopathic facies [ncbi.nlm.nih.gov]

  • Delayed Gastric Emptying

    Delayed gastric emptying with gastrointestinal dysmotility are additional concerns. Some affected individuals have required gastrostomy tube feedings [Dines et al 2019]. [ncbi.nlm.nih.gov]

Liver, Gall & Pancreas

  • Hepatomegaly

    Not seen: prolongation of QT interval Very long-chain acyl-CoA dehydrogenase deficiency ACADVL AR Arrhythmias, rhabdomyolysis, intermittent hypoglycemia Hypoketotic hypoglycemia, hepatomegaly Acute recurrent myoglobinuria (OMIM 268200) LPIN1 AR Muscle [ncbi.nlm.nih.gov]

Neurologic

  • Muscle Tone Abnormalities

    For muscle tone abnormalities including hypertonia, consider involving appropriate specialists to aid in management of baclofen, Botox®, or orthopedic procedures. Fine motor dysfunction. [ncbi.nlm.nih.gov]

  • Clumsiness

    Baseline gait incoordination, progressively unsteady gait, difficulty with speech, or clumsiness is frequently reported in ambulatory individuals, even prior to the first episode of acute myoglobinuria. [ncbi.nlm.nih.gov]

Workup

The patient's chest X-ray, laboratory workup, and vital signs were suggestive of aspiration pneumonia-induced sepsis and acute hypoxemic respiratory failure. [pesquisa.bvsalud.org]

Serum

  • Hypoketotic Hypoglycemia

    Not seen: prolongation of QT interval Very long-chain acyl-CoA dehydrogenase deficiency ACADVL AR Arrhythmias, rhabdomyolysis, intermittent hypoglycemia Hypoketotic hypoglycemia, hepatomegaly Acute recurrent myoglobinuria (OMIM 268200) LPIN1 AR Muscle [ncbi.nlm.nih.gov]

Treatment

Questions regarding definitive treatment remain. [ncbi.nlm.nih.gov]

Despite the anti-epileptic treatment of the NCSE group, the underlying cause of ME is still the main factor that affected the outcome. [pesquisa.bvsalud.org]

Prognosis

This case achieved a good prognosis after the early initiation of immunotherapy. 7. [pesquisa.bvsalud.org]

Etiology

Here, we assessed cases of hepatic encephalopathy of different etiologies by immunohistochemistry using an anti-p62 antibody. [pesquisa.bvsalud.org]

Pathophysiology

Additional work pertaining to disease pathophysiology and potential therapeutics is needed. [pesquisa.bvsalud.org]

Prevention

Prevention of secondary complications: Provide hydration and alkalinization of the urine during an attack of rhabdomyolysis and myoglobinuria to prevent renal failure. [ncbi.nlm.nih.gov]

Key factors that differentiate these two models include tradition, nuances of the models themselves, linguistic connotations, evoked responses from clinicians, implications of preventability and responsibility, cultural perceptions of non-pharmacological [pesquisa.bvsalud.org]

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