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Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

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Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

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Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed. It is caused by activating mutations in the GLUD1 gene which encodes

Intractable absence seizures in hyperinsulinism-hyperammonemia syndrome.

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A girl with intractable absence seizures and facial myoclonia at age 7 years was eventually diagnosed with hyperinsulinism-hyperammonemia syndrome because of hypoglycemia, hyperinsulinism, hyperammonemia, and the results of an oral l-leucine loading test. Her seizures occurred even during periods of

Seizure due to somatostatin analog discontinuation in a case diagnosed as congenital hyperinsulinism novel mutation.

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The most common reason for refractory hypoglycemia in newborns is congenital hyperinsulinism. We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during somatostatin analog (octreotide)

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.

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Hyperinsulinism-hyperammonemia (HI/HA) syndrome is the second most frequent cause of congenital hyperinsulinism (CHI) and it is characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia. We describe the familial case of a 2-year-old child and her 32-year-old mother who,

[Epileptiform seizures caused by hyperinsulinism in a 12 year old boy].

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[Cerebral seizures in hyperinsulinism].

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VERTIGINOUS TEMPORAL LOBE SEIZURES STIMULATED BY FUNCTIONAL HYPERINSULINISM.

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The hitchhiker's guide to the role of (transient) hypoglycemia in refractory seizures and epilepsy.

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Hypoglycemia and hypoglycorrhachia, although they are uncommon causes of refractory seizures and epilepsy, should always be considered because they are potentially treatable conditions. A high index of suspicion and low threshold for testing recurrent blood and at least one cerebrospinal fluid

[Persistent neonatal hyperinsulinism. Analysis of the differential diagnosis. Report of two cases].

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Persistent neonatal hyperinsulinism is the most common cause of refractory hypoglycemia during the first year of life. Inadequate insulin secretion is associated to mutations of four different genes, that can be diagnosed to orient patient management. We report two patients: a female newborn that

Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism.

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BACKGROUND Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and partial pancreatectomy for diffuse and focal disease respectively). Most patients treated with near-total pancreatectomy developed diabetes during childhood/puberty. CH patients are at increased risk of

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

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BACKGROUND Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity

Persistent hyperinsulinemic hypoglycaemia followed as benign infantile convulsion.

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An 18-month-old boy developed seizures at 3 months of age. He developed normally and, his EEG and brain CT revealed no abnormal findings. The blood sugar level was normal at that time, thus he was diagnosed as having benign infantile convulsion. At 7 months of age seizures reappeared, and

[Neonatal hypoglycemia caused by hyperinsulinism and subsequent epilepsy].

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A historical cohort study was undertaken to determine the risk of epilepsy in a population of 18 newborns with neonatal hypoglycemia due to insulin excess. Follow-up was 3 years 8 months (range 7 years-1 year 3 months). Insulin excess was associated with maternal diabetes in 13 infants, with an

[Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature].

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BACKGROUND Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results. METHODS We

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