Unilateral cortical necrosis following status epilepticus with hypoglycemia

Christiaens, Florence; Mewasingh, Leena; Christophe, Catherine; Goldman, Serge; Dan, Bernard

doi:10.1016/s0387-7604(02)00164-x

Cited by 23 publications

(17 citation statements)

References 22 publications

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“…Alluding to this hypothesis, is the fact that patients with HI/ HA syndrome do not usually have focal defi cits, in contrast to patients with hypoglycemic brain insults (15) . In addition, the epilepsy observed in HI/HA syndrome patients are absence seizures, or less frequently generalized, but not focal or multifocal as seen in patients with hypoglycemic insults (16) Signifi cant genotype-phenotype correlation between persistently elevated serum ammonia concentrations and mutations in exons 11 and 12 have been reported and is consistent with the concept that altered GDH activity in the liver is responsible for the abnormal ammonia metabolism. No such association was however observed for the hypoglycemia component of HI/HA syndrome (8) .…”

Section: Discussionsupporting

confidence: 64%

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome

Balasubramaniam

Kapoor²,

Yeow³

et al. 2011

Journal of Pediatric Endocrinology and Metabolism

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Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH). Patients present with recurrent symptomatic postprandial hypoglycemia following protein-rich meals (leucine-sensitive hypoglycemia) as well as fasting hypoglycemia accompanied by asymptomatic elevations of plasma ammonia. In contrast to other forms of CHI, the phenotype is reported to be milder thus escaping recognition for the fi rst few months of life. Early diagnosis and appropriate management are essential to avoid the neurodevelopmental consequences including epilepsy and learning disabilities which are prevalent in this disorder. We report an infant presenting with afebrile seizures secondary to hyperinsulinemic hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene.

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Section: Discussionsupporting

confidence: 64%

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome

Balasubramaniam

Kapoor²,

Yeow³

et al. 2011

Journal of Pediatric Endocrinology and Metabolism

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“…These findings would be expected to improve on repeat imaging after the seizures are controlled (Milligan et al 2009). Laminar necrosis has been reported in pediatric patients in the setting of status epilepticus with persistent hypoglycemia (Christiaens et al 2003;Huang et al 2009). Although our patient was initially hypoglycemic, subsequent serum and CSF glucoses were normal.…”

Section: Discussionmentioning

confidence: 99%

A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy

et al. 2015

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Objective: We report a novel presentation of childhood cerebral X-linked adrenoleukodystrophy: status epilepticus followed by abrupt and catastrophic neurologic deterioration.Methods: A description of the clinical presentation, laboratory evaluation, and imaging findings leading to a diagnosis of X-linked adrenoleukodystrophy.Results: A 3-year-old male with prior history of autism presented with fever, diarrhea, and status epilepticus requiring a pentobarbital coma. Admission labs were notable only for a glucose level of 22 mg/dL, which stabilized after correction. The child never returned to his prior neurologic baseline, with complete loss of gross motor, fine motor, and speech skills. Serial brain magnetic resonance imaging (MRI)/magnetic resonance spectroscopy (MRS) was notable for progressive diffuse cortical signal changes with swelling, diffusion restriction, and ultimately laminar necrosis. Nine months after presentation, CSF (cerebrospinal fluid) protein and MRS lactate were persistently elevated, concerning for a neurodegenerative disorder. This led to testing for mitochondrial disease, followed by lysosomal and peroxisomal disorders. Very long-chain fatty acids were elevated. Identification of a pathogenic ABCD1 mutation confirmed the diagnosis of X-linked adrenoleukodystrophy.Conclusions: Boys with childhood cerebral X-linked adrenoleukodystrophy typically present with gradual behavioral changes. Rare reports of boys presenting with transient altered mental status or status epilepticus describe a recovery to their pre-presentation baseline. To our knowledge this is the first X-ALD patient to present with status epilepticus with abrupt and catastrophic loss of neurologic function. X-linked adrenoleukodystrophy should be suspected in young males presenting with seizures, acute decline in neurologic function, with persistently elevated CSF protein and MRS lactate.

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“…7 Inadequate cerebral glucose supply, because of recurrent episodes of severe hypoglycemia during the neonatal period or infancy, when the brain is still developing, lead to serious long-term neurological impairments, ranging from mild neurocognitive dysfunction to severe mental retardation, epilepsy, microcephaly, or even hemiparesis or aphasia. 1,8 In this study, we examined clinical outcome and cranial magnetic resonance imaging (MRI) findings in infants with hypoglycemia to determine the effects of hypoglycemia on the developing brain. A general physical and neurological examination was performed in all patients on admission and during the follow-up period of 6 months.…”

mentioning

confidence: 99%

Clinical Outcome and Magnetic Resonance Imaging Findings in Infants With Hypoglycemia

et al. 2010

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The authors examined clinical outcome and cranial magnetic resonance imaging (MRI) findings in infants with hypoglycemia to determine the effects of hypoglycemia on the developing brain. A total of 110 infants with hypoglycemia were included in the study. Of the patients, 36 were females and 74 were males. The age of the infants was between 1 day and 22 months. Of the 110 infants, 47 were preterm neonates, 40 were term neonates, and 23 were older than 28 days. No difference in serum glucose level was noted between symptomatic and asymptomatic infants. The most common observed abnormal findings were hyperintense lesions, encephalomalacia, and cerebral atrophy. Abnormal MRI findings were found in 4% of preterm infants, in 32.5% of term infants, and in 43.5% of older infants. Abnormal MRI findings were statistically significantly more common in symptomatic infants than in asymptomatic infants. Of the infants, 45.5% of hypoglycemic infants had cerebral palsy and/or cerebral palsy plus epilepsy.

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Unilateral cortical necrosis following status epilepticus with hypoglycemia

Cited by 23 publications

References 22 publications

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome

A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy

Clinical Outcome and Magnetic Resonance Imaging Findings in Infants With Hypoglycemia

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