Neuropediatrics
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The purpose of this study was to assess the effect of epilepsy surgery on seizure outcome in children and adolescents under 18 years with intractable epilepsy due to focal cortical dysplasia. We analysed clinical data, such as age at seizure onset, epilepsy course, localisation of focus from presurgical evaluation, MRI, tissue pathology and seizure outcome in 68 patients 6 months to 9 years after epilepsy surgery. Seizure outcome was classified according to the Engel classification. ⋯ Complete resection of the dysplastic lesion was significantly correlated with favorable seizure outcome, whereas seizure outcome was not significantly different in patients with mild (type I) or balloon cell (type II) FCD. Children operated after 6 years of age had no better outcome than children operated in infancy or at preschool age. Epilepsy surgery resulted in good (class I and II) seizure control in 60 % of children with intractable epilepsy due to focal cortical dysplasia.
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In Schwartz-Jampel syndrome micrognathia and jaw muscle rigidity may result in difficult or impossible tracheal intubation. Since the dose-response relationship to muscle relaxants is unknown in this rare disease we assessed by mechanomyography the neuromuscular response to the rocuronium in a two-year-old child with Schwartz-Jampel syndrome (SJS) Type 1 B. ⋯ Thus, considerably higher doses of NDMR than usual may be required for facilitation of tracheal intubation in patients with SJS. Since evidence for genetic heterogeneity of SJS exists we also recommend incremental doses of a rapidly acting NDMR with continuous monitoring of neuromuscular function so as to assess the optimum relaxant dose.
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Case Reports
Peculiar respiratory response observed during sleep-onset REM sleep of an infant with Ondine's curse.
We treated an infant with congenital central hypoventilation syndrome ("Ondine's curse"). She was cyanotic and given ventilatory support at the first hour after birth. An investigation of sleep state and respiration performed at the age of 3 months led to this diagnosis. ⋯ At 4 months of age, her respiratory treatment was successfully converted to positive-pressure ventilation via a nasal mask, thus avoiding tracheotomy. This transition to noninvasive ventilatory support dramatically improved her quality of life during wakefulness. This report may be a clue to discuss the function of sleep-onset REM sleep seen in the early stage of life and suggests that nasal mask ventilation is a viable option in selected cases with congenital central hypoventilation syndrome (CCHS).
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The aim of this study was to assess changes in cerebral haemodynamics and oxygenation induced by surfactant administration using near infrared spectroscopy (NIRS). ⋯ Cerebral blood volume remained constant in very-low-birth-weight infants when surfactant was administered by bolus administration followed by manual ventilation according to our protocol. Attention should be directed towards rapid adaptation of inspiratory oxygen concentrations after surfactant administration to avoid hyperoxaemia.
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Laminin-2 (merosin) is a heterotrimer composed of alpha 2, beta 1 and gamma 1 chains. Approximately half of the cases with the classical form of congenital muscular dystrophy (CMD) have a deficiency of the laminin alpha 2 chain, encoded by the LAMA2 gene on chromosome 6q22. This disorder is often termed merosin-deficient CMD. ⋯ Studies of mRNA of cultured skin cells suggest that fibroblasts are the major source of laminin alpha 2, not keratinocytes. Our data show that skin is useful for the assessment of merosin status in patients with CMD and that skin fibroblasts may be a useful source of tissue-specific RNA. In addition, we show that there is a tissue-specific difference in the developmental expression of the laminin alpha 2 protein.