Pediatric neurology
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Pediatric neurology · Jan 2014
Case ReportsA novel mutation in SCN9A in a child with congenital insensitivity to pain.
[corrected] Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise essentially normal (OMIM 243000). The recent discovery of the genetic defects underlying 3 monogenic pain disorders has provided additional and important insights about some components of human pain. Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons. Here we describe a patient with CIP with a new mutation in SCN9A not described yet. ⋯ We report a novel, loss-of-function mutation in homozygosity that causes congenital insensitivity to pain and provide a comprehensive clinical description of the patient. This contributes to the clinical and neurophysiological characteristic of the sodium channel Nav1.7 channelopathy and expand our genetic knowledge which might provide more accurate and comprehensive clinical electrophysiological and genetic information.
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Pediatric neurology · Jan 2014
Cerebrospinal fluid TNF-α, IL-6, and IL-8 in children with bacterial meningitis.
We evaluated the levels of cerebrospinal fluid concentrations of tumor necrosis factor-α, interleukin-6, and interleukin-8 in bacterial meningitis in children. ⋯ The increased concentration of cerebrospinal fluid tumor necrosis factor-α, interleukin-6, and interleukin-8 in children with meningitis suggests a role in the pathogenesis of bacterial meningitis and these levels might prove to be useful in children whose diagnosis is in question.
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Pediatric neurology · Jan 2014
Case ReportsIdentification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy. ⋯ Severely delayed myelination was anecdotally reported in previous patients with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.
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Pediatric neurology · Jan 2014
Review Case ReportsLambert-Eaton syndrome, an unrecognized treatable pediatric neuromuscular disorder: three patients and literature review.
Lambert-Eaton myasthenic syndrome, a presynaptic neuromuscular junction autoimmune disorder, rarely occurs in children. Patients typically present with proximal lower extremity weakness with areflexia. ⋯ Lambert-Eaton myasthenic syndrome is a diagnosis that must be considered in children presenting with unidentified proximal muscle weakness. In most children, Lambert-Eaton myasthenic syndrome is a primary autoimmune disorder that is treatable. Nevertheless, a search for malignancy is recommended.
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Pediatric neurology · Jan 2014
Neurofibromatosis type 1 associated with moyamoya syndrome in children.
Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in asymptomatic children, accurate epidemiologic data are lacking. On follow-up, clinical and radiologic progression is often found in patients with moyamoya syndrome. ⋯ The association between moyamoya syndrome and neurofibromatosis type 1 is rare, but it poses a potential risk of clinicoradiologic progression. Targeted monitoring of children with neurofibromatosis type 1 ensures an early diagnosis of moyamoya syndrome.