Pediatric neurology
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Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. ⋯ Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome.
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Pediatric neurology · Dec 2011
Case ReportsHeterogeneity of Marinesco-Sjögren syndrome: report of two cases.
Marinesco-Sjögren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sjögren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sjögren syndrome, but without mutations in SIL1. ⋯ Marinesco-Sjögren syndrome is genetically heterogeneous, and mutations of SIL1 are often not evident. Consequently, we presume that new genes for Marinesco-Sjögren syndrome await discovery. New genes hold the promise of furthering the mechanistic understanding of the condition, enabling clinically meaningful genetic classification schemes to be designed.
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Pediatric neurology · Nov 2011
Review Case ReportsAtypical syncope in a child due to a colloid cyst of the third ventricle.
A 10-year-old girl presented to an emergency room with acute-onset, brief, repetitive episodes of loss of consciousness. Computed tomography indicated a 0.6 cm colloid cyst of the anterior third ventricle, adjacent to the foramen of Monro. This finding was confirmed by magnetic resonance imaging. ⋯ In contrast, colloid cysts are relatively uncommon in children, with only 100 cases reported in the literature. Colloid cysts are a known cause of sudden death. The possibility of colloid cyst should be considered in the differential diagnosis of syncope that presents in an atypical fashion, and such cases warrant emergent evaluation via neuroimaging.
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Pediatric neurology · Nov 2011
ReviewIsolated neonatal seizures: when to suspect inborn errors of metabolism.
Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to diagnose, and thus a high index of suspicion is required. The early diagnosis of inborn errors of metabolism is crucial, considering that many can receive effective treatment (e.g., dietary supplementation or restriction) with favorable long-term outcomes. This review emphasizes the importance of considering inborn errors of metabolism in the differential diagnosis of neonatal seizures, discusses red flags for inborn errors of metabolism as a cause of neonatal seizures, and provides an overview of diagnoses and treatments of inborn errors of metabolism most commonly associated with neonatal seizures.
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Pediatric neurology · Oct 2011
Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study.
In a neurofibromatosis type 1 murine model, treatment with lovastatin reversed cognitive disabilities. We report on a phase I study examining the safety and tolerability of lovastatin in children with neurofibromatosis type 1. Twenty-four children with neurofibromatosis type 1 underwent a dose-escalation protocol for 3 months to identify the maximum tolerated dose and potential toxicity. ⋯ Additional analyses, using reliable change indices, indicated improvements exceeding those of test-retest or practice effects in some participants. These observations may be analogous to the improvements observed in a neurofibromatosis type 1 murine model treated with lovastatin, although further study and replication are required. The safety and preliminary cognitive results support the need for a larger phase II trial in this population.