Pediatric neurology
-
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.
-
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.
-
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.
-
Pediatric neurology · Jan 2014
Screening for psychiatric comorbidity in children with recurrent headache or recurrent abdominal pain.
Recurrent pain symptoms in children are associated with psychiatric comorbidities that could complicate treatment. We investigated the prevalence of psychiatric comorbidity in children with recurrent headache or recurrent abdominal pain and evaluated the screening potential of the Strength and Difficulties Questionnaire compared with the Development and Well-Being Assessment (DAWBA). ⋯ Children referred to specialized outpatient pediatric units for evaluation of recurrent pain are at high risk of psychopathology. The Strength and Difficulties Questionnaire may serve as a rapid cost-effective tool for initial screening of these patients.
-
Pediatric neurology · Dec 2013
Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution.
Hereditary hemorrhagic telangiectasia is an autosomal dominant genetic disease with a wide array of vascular malformations involving multiple organs. Brain arteriovenous malformations can lead to intracranial hemorrhage and are often diagnosed only after patients become symptomatic. Early diagnosis and interventional treatment may prevent neurologic sequelae or death. Because of the rarity of defined cases, the spectrum of presentations in children with brain arteriovenous malformations and hereditary hemorrhagic telangiectasia has not been explored in detail. Here, we report our experience in children with hereditary hemorrhagic telangiectasia and brain arteriovenous malformations regarding both disease manifestations at presentation and the spectrum of brain arteriovenous malformation manifestations. ⋯ This study highlights the importance of both family history and early clinical signs to prompt further diagnostic testing to avoid intracranial hemorrhage from brain arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.