Neuropediatrics
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We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYT1-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. ⋯ The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn-Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained.
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Anterior spinal artery (ASA) infarction is a rare but well-described cause of flaccid paraparesis in adults, presenting with a high thoracic spinothalamic sensory level and preservation of dorsal column function. Careful sensory examination, demonstrating loss of spinothalamic modalities with preservation of dorsal column modalities, supports a clinical diagnosis of ASA infarction. ⋯ We describe four children with ASA infarction after minor trauma. DWI was performed in all cases and confirmed the clinical diagnosis.
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Clinical Trial
Neurometabolic effects of ACTH on free amino compounds in opsoclonus-myoclonus syndrome.
To evaluate the possible role of central free amino compounds in pediatric opsoclonus-myoclonus syndrome (OMS), 21 cerebrospinal fluid (CSF) amino compounds were measured by an amino acid analyzer or mass spectroscopy in 74 anesthetized children, 54 with OMS and 20 age-matched neurological controls. In OMS, only phosphoethanolamine was increased compared to controls; OMS severity and duration had significant converse effects on alanine and phosphoethanolamine. In contrast, corticotropin (ACTH) treatment was associated with increased alanine and phenylalanine, and decreased taurine compared to controls and untreated OMS, and increased glutamine, lysine, ornithine, and tyrosine compared to untreated OMS. ⋯ The ACTH dose-association was most apparent for alanine and phosphoethanolamine, but lysine and ornithine were also higher in the high-dose ACTH group. There were no significant disease- or treatment-associated perturbations in GABA, glycine, or other amino acids. These data suggest a unique pattern of ACTH effects on non-neurotransmitter CSF amino compounds, for the most part not shared by steroids.
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Scoliosis repair surgery is a common procedure. Our study's first goal was to compare pre- and postoperative parameters between the cerebral palsy (CP) and idiopathic scoliosis (IS) children. The second goal was to establish possible associations between preoperative parameters that could predict the outcome of spinal surgery and the incidence of early postoperative complications. ⋯ In addition, young age at surgery and posterior spinal fusion correlated with a more favorable immediate postoperative prognosis among the IS population. CP children attended surgery in worse physical condition and in turn had a poorer immediate and short-term postoperative prognosis than IS children. Young age at surgery and posterior fusions revealed protective characteristics among the IS population.
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There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the second neonate with gingival hyperplasia in the context of foetal valproate syndrome and review the literature.