congenital hyperinsulinism/epileptični krč

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

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Prijava / prijava

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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Prijava / prijava

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,

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

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Prijava / prijava

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

Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.

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Prijava / prijava

The autosomal recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is associated with mutations in either ABCC8 or KCNJ11 genes. In the present study, we describe the clinical features and results of genetic analysis of 13 Saudi Arabian patients with PHHI. Clinically, most

Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism.

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Prijava / prijava

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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Prijava / prijava

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 hypoglycemia of infancy: case report]

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Prijava / prijava

OBJECTIVE: To report a case of Persistent Hyperinsulinemic Hypoglycemia in twins which is a situation not yet reported in the literature. METHODS: Report of seizures in identical twins, from consanguineous parents, with persistent hypoglycemia as cause of the seizures. Laboratory tests, performed

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

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Prijava / prijava

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

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI): Long-term outcome following 95% pancreatectomy.

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Prijava / prijava

OBJECTIVE To evaluate the outcome of neonates and infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) who had undergone 95% pancreatectomy, with special emphasis on development of diabetes mellitus (DM). METHODS Ten infants diagnosed according to the established criteria of PHHI,

Congenital hyperinsulinism: review of 12 Tunisian cases.

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Prijava / prijava

BACKGROUND Congenital hyperinsulinism in infancy (CHI) is a heterogeneous disorder with respect to genetics and response to therapy. Data on CHI are sporadic in North African population. OBJECTIVE To characterize the clinical features and outcome of 12 Tunisian patients with CHI. METHODS data of

Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism.

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Prijava / prijava

OBJECTIVE Congenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in neonates and infants due to dysregulation of insulin secretion. This study aimed to review 20 years' experience in the management of Taiwanese children with CHI. METHODS Between 1990 and 2010, children

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

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Prijava / prijava

OBJECTIVE In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI. METHODS We surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (24-hour

Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism.

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Prijava / prijava

BACKGROUND Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated

Congenital hyperinsulinism and the surgeon: lessons learned over 35 years.

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Prijava / prijava

OBJECTIVE Congenital hyperinsulinism induces severe and unremitting hypoglycemia in newborns and infants. If poorly controlled, seizures and irreversible brain damage may result. Subtotal (<95%) or near-total (95% to 98%) pancreatectomy have been performed for glycemic control in babies who do not

Persistent hyperinsulinemic hypoglycemia of infancy.

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Prijava / prijava

OBJECTIVE To study the nature and clinical course of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) due to nesidioblastosis. METHODS Clinical, laboratory and therapeutic evaluation of infants with this disorder and study the outcome. METHODS Hospital born neonates and infants referred

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