Pediatric neurology
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Pediatric neurology · Jan 2015
Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.
Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant "treatment gap" and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex. ⋯ We hope that the unified term TAND and the TAND Checklist will raise awareness of the importance of tuberous sclerosis complex-associated neuropsychiatric disorders and of the major burden of disease associated with it, provide a shared language and a simple tool to describe and evaluate the different levels of TAND, alert clinical teams and families or individuals of the importance of screening, assessment, and treatment of TAND, and provide a shared framework for future studies of tuberous sclerosis complex-associated neuropsychiatric disorders.
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Pediatric neurology · Jan 2015
Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist.
Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis-associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist. ⋯ The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
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Pediatric neurology · Jan 2015
Case ReportsA unique case of adolescent neuroborreliosis presenting with multiple cranial neuritis and cochlear inflammation on magnetic resonance imaging.
Lyme disease is the most common vector-borne disease in the United States and is caused by infection with the spirochete Borrelia burgdorferi. In children, neuroborreliosis usually presents as peripheral facial nerve palsy and lymphocytic meningitis and only rarely is associated with cranial polyneuritis. ⋯ Neuroborreliosis with radiculopathy, lymphocytic meningitis, and cranial polyneuritis is a rare presentation of pediatric Lyme disease. Additionally, cochlear inflammation along with cranial nerve VIII inflammation may contribute to hearing loss in patients with neuroborreliosis.
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Pediatric neurology · Dec 2014
Case ReportsWernicke encephalopathy due to thiamine deficiency after surgery on a child with duodenal stenosis.
Wernicke encephalopathy is rare in children and is caused by thiamine deficiency. It is characterized by acute or subacute ataxia, altered consciousness, and ophthalmoparesis. Gastroenterological surgery, total parenteral nutrition for short bowel syndrome, and alcoholism are common risk factors for Wernicke encephalopathy. Typical magnetic resonance imaging features include selective symmetrical signal changes in the mammillary bodies, medial thalamus, tectum, periaqueductal region, cranial nerves, cerebellum, red nucleus, dentate nucleus, fornix, splenium, cerebral cortex, and putamen. If left undiagnosed and untreated, the disease may be fatal. ⋯ Our report emphasizes the importance of clinical and magnetic resonance imaging pattern recognition in timely diagnosis, as well as the importance of prompt thiamine replacement therapy. We also demonstrate the importance of thiamine supplementation during total parenteral nutrition after gastrointestinal surgery.
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Pediatric neurology · Nov 2014
Case ReportsA novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.
Congenital insensitivity to pain is a rare autosomal recessive disease. Individuals who are diagnosed with congenital insensitivity to pain usually present severely impaired pain perception, and in some cases, they also manifest a decreased sense of smell (anosmia). This disease is caused by loss of function mutations affecting the SCN9A gene, which encodes the voltage-gated sodium channel Nav1.7. It is noteworthy that nearly every mutation linking this particular channel to congenital insensitivity to pain has been demonstrated to underlie the translation of a truncated protein. ⋯ In this report we present a previously unreported homozygous nonsense mutation present in a consanguineous Moroccan congenital insensitivity to pain patient with anosmia. The identification of this mutation extends the spectrum of mutations affecting the Nav1.7 channel, and it confirms earlier studies that established Nav1.7 roles in nociception and the sense of smell.