Neuropediatrics
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Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder with clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and to a varying degree mental retardation. ⋯ In addition, both patients presented with external ophthalmoplegia and paralytic dysphagia. Sequencing of all 10 exons of the SIL1 gene did not detect any SIL1 mutation in our patients.
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Multicenter Study
Clinical presentation and course of childhood Guillain-Barré syndrome: a prospective multicentre study.
Presenting symptoms, clinical course and paraclinical findings in childhood Guillain-Barré syndrome (GBS) have rarely been investigated prospectively. We performed a multicentre study in GBS diagnosed according to international criteria. Clinical findings were recorded using an ordinal GBS score and additional scores for arm, cranial nerve and vegetative function, and pain. ⋯ Besides pareses and respiratory compromise, severe neuropathic pain frequently is a therapeutic challenge during the acute phase of the disease. The long-term prognosis is good for most children. However, a change to CIDP and concurrent myelitis can give rise to a worse prognosis.
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Case Reports
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life.
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Comparative Study Clinical Trial
Early periinsular hemispherotomy in children with Sturge-Weber syndrome and intractable epilepsy--outcome in eight patients.
Periinsular hemispherotomy is used to treat catastrophic epilepsy in hemispheric lesions. It avoids complications of tissue resection performed in other hemispherectomy procedures. We report on the effectiveness, complications, and neurological sequelae in patients with Sturge-Weber syndrome (SWS). ⋯ Periinsular hemispherotomy is a valuable treatment modality in this patient group. The sequelae of hemiparesis, hemianopsia, and developmental delay must be seen in relation to the natural course in severe SWS.
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Ophthalmoplegic migraine (OM) is a rare variant of migraine characterized by recurrent attacks of severe headache followed by oculomotor nerve palsy. The recent revision of the International Headache Classification has reclassified OM from a subtype of migraine, defined as a functional headache, to the neuralgia category. We describe a case of an 11-year-old girl with pathologically confirmed oculomotor nerve schwannoma who had been suffering from symptoms mimicking OM. ⋯ After surgery, the frequency of OM attacks was reduced. From this experience, we hypothesize that optic nerve tumor is one condition that can mimic OM, without apparent signs suggestive of intracranial mass. To our knowledge, this is the first report to describe a pathologically confirmed case of oculomotor nerve schwannoma mimicking OM.