Biomedical subjects
Publications and source records attributed to R E Appleton.
Three cases of congenital cranial hemihypertrophy are described. CT or ultrasound scans showed unilateral cerebral enlargement with dilatation of the ipsilateral ventricle. Seizures occurred in two patients and the neurodevelopmental outlook appears poor. These patients represent a poor prognosis subgroup of the congenital hemihypertrophies.
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We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.
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Significant neurotoxicity including seizures, encephalopathy and coma may complicate the use of cyclosporin A (CyA). Two patients are described, receiving CyA, who presented with abnormal behaviour, stupor, focal motor activity and were shown to be in complex partial status epilepticus (CPSE). Abnormalities of behaviour and/or stupor in patients receiving CyA may be a manifestation of CPSE. Patients receiving CyA who develop an encephalopathy should have electroencephalography performed at the time of the abnormal behaviour.
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Chronic, relapsing dysimmune polyradiculoneuropathy is an uncommon disease which occasionally affects children. The relapsing-remitting and/or progressive symptoms may be refractory to treatment. Regular, objective assessment of muscle strength, visually displayed, facilitates knowledge of the natural history of the disease and predicts response to treatment, and thus optimum planning for treatment. Myometry, discussed in this report, appears to be an objective and useful technique for this purpose, as illustrated in two teenage girls with this disease.
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Optic nerve glioma is a rare but important cause of visual impairment during childhood. The presenting symptoms and signs usually are visual, but are commonly misinterpreted. We report 18 children with visual loss secondary to optic nerve glioma. Thirteen of these patients presented with failing vision; only 3 had a correct initial diagnosis. The errors in diagnosis resulted in many years of treatment delay with consequent further visual impairment or no improvement in vision and a possible reduced efficacy of treatment. This delay may explain some of the controversy surrounding the role of radiotherapy in the management of these tumors. The diagnosis of optic nerve glioma must be considered in any child who presents with failing vision, optic atrophy, and/or nystagmus, in whom there is no demonstrable intraocular cause.
The effects of vigabatrin were studied over a 6-month period in 43 patients with intractable epilepsy. Children with complex partial seizures, with or without secondary generalization, responded best with more than one-half achieving a greater than 50% reduction; generalized tonic-clonic seizures also improved but there was no significant change in absence or myoclonic seizures. Four patients are seizure-free on monotherapy with vigabatrin. The drug was well tolerated with few side effects.