Extrapontine myelinolysis associated with severe hypernatremia in infancy

Aoki, Ryoji; Morimoto, Takeshi; Takahashi, Yusuke; Saito, Hiroshi; Fuchigami, Tatsuo; Takahashi, Shori

doi:10.1111/ped.13042

Cited by 14 publications

(13 citation statements)

References 9 publications

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“…15,16 The presence of extensive changes, especially in the extrapontine structures, reflects the effect of severe hypernatremia and high osmolarity on the myelin. 17,18 The intraneuronal idiogenic osmoles' slow dissipation results in persistent water retention leading to neuronal and glial swelling with resultant cerebral swelling. 19 These osmotic changes also cause intramyelinic edema and splitting of myelin lamellae in the myelinated fibers, reflected radiologically as diffusion restriction and reduction in apparent diffusion coefficient.…”

Section: Discussionmentioning

confidence: 99%

Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations

et al. 2021

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Background Variable neurological manifestations and imaging findings have been described in children with severe hypernatremia. We aimed to describe the spectrum of neuroimaging changes in infants with severe hypernatremia. Methods This retrospective study included infants with severe hypernatremia (serum sodium >160 mEq/L), abnormal neurological examination, and an abnormal magnetic resonance imaging (MRI) of the brain over a period of 2 years in a tertiary care hospital. Relevant clinical data, including the feeding practices, clinical features, complications, and biochemical and radiological parameters, were entered in a structured pro forma. MRI findings were classified as vascular (hemorrhages and cerebral sinus venous thrombosis), osmotic demyelination syndrome (pontine and extrapontine myelinolyses), and white matter changes. Results The common clinical features in the neonates were poor feeding (n = 4) and decreased urine output (n = 4); the older infants presented with gastrointestinal losses (n = 5). All cases had dehydration with encephalopathy. The patterns of radiological injury were vascular (hemorrhages, n = 5 and venous thrombosis, n = 3), osmotic demyelination (n = 8), and white matter changes (n = 7). Coagulopathy was correlated with the vascular complications (r = 0.8, p < 0.0001); the degree of dehydration was correlated with the venous thrombosis (r = 0.7, p < 0.04) and acute kidney injury (r = 0.8, p < 0.001). Neurological sequelae were seen in four cases and correlated with hypernatremia (r = 0.6, p = 0.03) and hyperosmolarity (r = 0.6, p = 0.03). Conclusion Characteristic neuroimaging findings are vascular changes in the form of venous thrombosis and hemorrhages, osmotic demyelination and white matter tract injury, and/or mostly combinations of these findings. Severe hypernatremia and resulting hyperosmolarity frequently cause neurological sequelae in neonates and infants.

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Section: Discussionmentioning

confidence: 99%

Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations

et al. 2021

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“…[14] ODS usually occurs during the rapid correction of hyponatremia, whereas it rarely occurs in severe hypernatremia. [5][6][7][8] Experimental work in laboratory animals with induced hypernatremia has revealed cellular damage and myelinolysis. Acute hypernatremia is characterized by cellular dehydration due to a shift of water from the interstitial and intracellular compartments.…”

Section: Discussionmentioning

confidence: 99%

“…Although it usually occurs during rapid correction of hyponatremia, ODS due to hypernatremia has been reported in several patients, mainly adults, who develop acute hypernatremia due to various etiologies [5–7] . Only few cases of ODS in infants have been reported [8] . Here, we present the case of an infant with ODS resulting from hypernatremia due to NDI.…”

Section: Introductionmentioning

confidence: 87%

Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy

et al. 2022

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Rationale: Almost 90% of congenital nephrogenic diabetes insipidus (NDI) cases are caused by mutations in the arginine vasopressin receptor 2 gene, which has X-linked recessive inheritance. Although NDI is commonly diagnosed in early infancy based on its characteristic findings, clinical diagnosis can be delayed when no other family members have been diagnosed with NDI because several findings of NDI are nonspecific.Patient concerns: A 3-month-old boy diagnosed with NDI presenting with osmotic demyelination syndrome (ODS) was admitted for poor weight gain after birth and poor feeding during the week prior to admission.Diagnosis: On admission, the initial blood examination showed hypernatremia (158 mmol/L), and treatment with intravenous fluids over the next 2 days further elevated the serum sodium level (171 mmol/L). After admission, polyuria was recognized, and polyuria in his grandmother and mother since childhood without a diagnosis of NDI was found. Magnetic resonance imaging showed multifocal, symmetrical lesions, including the lateral pons, on diffusion-and T2-weighted imaging, which led to a diagnosis of ODS.Intervention: The infusion was stopped, and the patient was fed milk diluted 2-fold with water.Outcomes: The serum sodium level gradually decreased to 148 mmol/L over the course of 1 week. Low-sodium milk was started at 4 months of age and maintained a serum sodium level of approximately 140 mmol/L, which was within the normal range. The developmental quotient was 94 at 4 years of age.Lessons: ODS is an encephalopathy resulting from extreme fluctuations in serum sodium concentration and plasma osmolality. ODS due to hypernatremia has been reported in several patients, although it usually occurs during rapid correction of hyponatremia. Consequences of the central nervous system are a critical complication of NDI that affects prognosis. These consequences can be avoided with treatment. Early blood examination or polyuria in the patient, mother, or another family member and hypernatremic dehydration with good urine output should lead to an early diagnosis and prevent central nervous system consequences.Abbreviations: AVPR2 = arginine vasopressin receptor 2, BUN = blood urea nitrogen, CNS = central nervous system, DWI = diffusion-weighted imaging, MRI = magnetic resonance imaging, NDI = nephrogenic diabetes insipidus, ODS = osmotic demyelination syndrome.

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“…However, it can be associated with many other disorders or an electrolyte imbalance in which sodium levels may be normal or even high. [2][3][4] In a large review, Singh et al 5 showed that the most common predisposing factor of CPM and EPM was hyponatremia (78%), and the most common presentation was encephalopathy (39%). Recognized predisposing factors include alcoholism, liver transplantation, malnutrition, and chronic debilitation states.…”

Section: Introductionmentioning

confidence: 99%

A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome

et al. 2020

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Bartter syndrome (BS) is a rare autosomal recessive renal tubular disorder characterized by acute electrolyte imbalance, and similarly, osmotic demyelination syndrome (ODS) is a rather rare complication occurring during electrolyte imbalance. The pathological features of ODS include central pontine myelinolysis and extrapontine myelinolysis (EPM), which consist of severe damage to the myelin sheath of neurons. ODS is very rare in children. We describe a case of a 3-month-old infant with ODS and EPM associated with undiagnosed BS. ODS developed because of a sudden change in electrolyte levels and osmolality caused by acute dehydration during a gastrointestinal infection episode. Undiagnosed, untreated, and non-balanced BS was the cause of the neurological complication. Our patient represents the first case of ODS in BS, the ninth case of ODS in an infant less than one year old, and the third case of isolated EPM in such a young patient. This case report reminds us that in rare diseases, young patients tend to have genetic components.

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Extrapontine myelinolysis associated with severe hypernatremia in infancy

Cited by 14 publications

References 9 publications

Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations

Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations

Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy

A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome

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