Journal of child neurology
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Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 (DSMA1; MIM#604320) and also known as distal hereditary motor neuropathy type 6 (dHMN6 or HMN6), results from mutations in the IGHMBP2 gene on chromosome 11q13.3 encoding the immunoglobulin micro-binding protein 2. In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation. In this article, the authors review the clinical, neuropathological, and genetic aspects of distal spinal muscular atrophy 1 and discuss differential diagnoses.
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Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. ⋯ The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.
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Transcranial magnetic stimulation (TMS) is a method for focal brain stimulation based on the principle of electromagnetic induction, where small intracranial electric currents are generated by a powerful, rapidly changing extracranial magnetic field. Over the past 2 decades TMS has shown promise in the diagnosis, monitoring, and treatment of neurological and psychiatric disease in adults, but has been used on a more limited basis in children. ⋯ The potential for applications of TMS in child neurology and psychiatry is significant. Given its excellent safety profile and possible therapeutic effect, this technique should develop as an important tool in pediatric neurology over the next decade.
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The object of this study was to investigate the epidemiologic pattern of autism spectrum disorder in Chinese children. An autism spectrum disorder registry has been established in Hong Kong since 1986 by collecting data in a single center (the only university-affiliated child assessment center in Hong Kong). Since 1997, inpatient data from all public hospitals under the Hospital Authority have been stored in a central computerized program and retrieved from the Clinical Data Analysis and Reporting System. ⋯ The male to female ratio was 6.58:1. This is the first reported epidemiologic study of autism spectrum disorder in Chinese children. The incidence rate is similar to those reported in Australia and North America and is lower than Europeans.
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A rare case of delayed lateral rectus palsy in a patient following resection of a pineal lesion in the sitting position is presented. Postoperative pneumocephalus is common following craniospinal surgical intervention in the sitting position. The sixth cranial nerve is frequently injured because of its prolonged intracranial course. ⋯ Even rarer is the report of this anomaly following craniotomy in the sitting position. This patient's symptoms manifested in a delayed fashion. Although uncommon, this complication should be considered in patients undergoing cranial or spinal surgical interventions in this position.