Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.

Neonatal tuberous sclerosis presenting with intractable seizures.

A 2-day old girl with status epilepticus, unresponsive to maximum pharmacological intervention, is reported. Findings of brain and cardiac lesions pointed to the diagnosis of tuberous sclerosis. One of the brain lesions was unusually large, occupying most of the right temporo-parietal lobe.

Congenital muscular dystrophy, brain and eye abnormalities: one or more clinical entities?

Four children with congenital muscular dystrophy (CMD), eye and brain abnormalities are described. Their clinical and neuroradiological features are compatible with a diagnosis of Walker-Warburg syndrome (WWS), according to the criteria proposed by Dobyns et al. (i.e., presence of type II lissencephaly, typical cerebellar and retinal malformations, CMD), who also conclude that WWS is indistinguishable from the muscle-eye-brain disease (MEBD) described by Santavuori. On the basis of our own experience and two recently published series, we emphasize certain features that are different in patients with WWS and patients with MEBD, which make their inclusion in the same syndrome dubious.

Hyperthyroid-induced chorea in an adolescent girl.

Hyperthyroidism is invariably accompanied by nervous system dysfunctions. Irritability, emotional lability and hyperkinesia are the signs and symptoms most frequently observed. Chorea or choreoathetosis are only rarely associated with hyperthyroidism. It is the purpose of this work to describe the case of a young girl in whom chorea was the main manifestation of thyrotoxicosis. The chorea receded and disappeared as the patient became euthyroid. Hyperthyroidism, therefore, is to be considered an unusual cause of chorea and every patient with choreiform movements should be examined also for thyroid function.

Evoked potentials before and after anemia correction with recombinant human erythropoietin in end-stage renal disease.

Subclinical involvement of the nervous system in uremic adults has been detected by modern neurophysiological techniques. Chronic anemia is one of the possible factors responsible for neural dysfunction in uremia. We evaluated neurophysiological (brainstem auditory and somatosensory evoked potential) abnormalities and their possible modification following anemia correction with recombinant human erythropoietin in 14 children with end-stage renal disease maintained by hemodialysis. Only peripheral and 8th cranial nerve electrophysiological data are significantly abnormal in our patients, and they are not acutely modified by anemia correction. These data confirm the importance of electrophysiological testing of uremic children for detecting nervous system involvement at an early stage and for monitoring the efficacy of its management.

Somatosensory pathway dysfunction in uremic children.

Neurophysiological studies have shown defects in peripheral conduction in up to 75% of adults with end-stage renal disease (ESRD), though abnormalities of central conduction seem more variable. There are no comparable pediatric data. We therefore measured median nerve somatosensory evoked potentials (SEPs) in 10 children with ESRD, maintained by hemodialysis, who had no neurological signs or symptoms, and compared the results with those for age-matched controls. The latencies of N9, P14, N20 and P22, and interpeak latencies, N9-N20, N9-P14 and P14-N20, were not significantly different between the two groups (Student's t test). However, the children with ESRD were significantly retarded in growth and when arm length was taken into account, a significant difference in peripheral conduction was revealed. There was no correlation with other indexes of disease severity (parathormone, aluminium, Hb, Na, K, Cl, BUN and creatinine). SEPs appear to reflect subclinical changes in peripheral conduction in sensory pathways in children with ESRD which are not correlated with other measures of disease severity.

[Gastroesophageal reflux and infantile cerebral palsy: our experience and review of the literature]. / Reflusso gastro-esofageo e paralisi cerebrale infantile: nostra esperienza e revisione della letteratura.

22 infant and children, all tetraplegic from cerebral palsy were admitted to our hospital for suspected gastroesophageal reflux. This working diagnosis was confirmed in 17 of them (77%) by an upper GI series and/or 24 hour oesophageal pH monitoring. All 17 were treated with medical therapy. In only 12.5% of them gastroesophageal symptoms improved. Seven children underwent surgery with complete resolution of vomiting in 57% of cases. These data confirm the high frequency of gastroesophageal reflux in children with cerebral palsy and its poor response to medical therapy. Most of these patients require surgical treatment, which unfortunately does not always resolve this vexing problem.

Hypomelanosis of Ito and hemimegalencephaly.

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis.

99mTc HM-PAO SPECT in pediatric migraine.

99mTC HM-PAO SPECT brain imaging was performed during the headache-free period in 19 young migraineurs, affected by common migraine (CM, 10 cases), classic migraine (CLM, 6 cases) and hemiplegic migraine (HM, 3 cases). SPECT findings were negative in all 10 patients with CM, in 3 cases of CLM and in 2 cases of HM. Positive findings in the remaining 4 patients (3 cases of CLM and 1 of HM) showed a decreased tracer distribution in the temporo-occipital regions (2 cases) and parietal regions (2 cases): the two with decreased temporo-occipital perfusion reported prodromal symptoms exclusively contralateral to the areas of hypoperfusion. An impaired regional cerebral vascular autoregulation may exist even during headache-free intervals in patients suffering from classic and hemiplegic migraine.

[Finding of focal heterotopy with magnetic resonance. Description of a case associated with late onset epilepsy]. / Rilievo di eterotopia focale con la risonanza magnetica. Descrizione di un caso associato ad epilessia ad esordio tardivo.

A case of late onset focal epilepsy in a mentally and neurologically normal girl in which the MRI showed a focal heterotopia is presented. The efficacy of this new procedure in detecting migratory disorders is discussed and the scanty literature reviewed. This case suggests that in the future more cases of epilepsy previously classified as "cryptogenetic" will be demonstrated as secondary to developmental abnormalities.

[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment]. / Sindrome di Rett: aspetti clinici ed EEG per un precoce inquadramento diagnostico.

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.

Bilateral cerebral occipital calcifications and migraine-like headache.

Computed tomography scanning in two young patients with recurrent, pulsating, migraine-like headache showed parieto-occipital calcifications. One patient presented with an atypical form of the Sturge-Weber syndrome, and the other with celiac disease and folic acid deficiency. The clinical features were analyzed and compared with those in other cases reported in the recent literature which have shown bioccipital calcifications but no cutaneous angiomas, sometimes associated with visual and/or intelligence deficit and epilepsy. Finally, the possible connection between cerebral calcifications and headache is discussed.

[Moya-moya syndrome. Progression of the angiographic picture and therapeutic prospectives]. / La sindrome di moya-moya. Progressività del quadro angiografico e prospettive terapeutiche.

Moya moya is an obstructive cerebrovascular disease characterised by peculiar cerebral angiographic features consisting of intracranial stenosis or occlusion of the internal carotid artery or its terminal branches associated with telangiectatic vessels at the base of the brain. Opinion is still divided between a congenital versus an acquired aetiology. Recurrent episodes of sudden hemiplegia, headache and convulsive manifestations occur more frequently in paediatric patients, while subarachnoid bleeding is usually the presenting finding in adults. After a progressive course for many years, the disease frequently stabilizes sometimes with residual disability. Surgical approach to improve cerebral blood flow has been developed but there is a high incidence of complications in pediatric patients. To minimize the defects during ischemic phase, a pharmacological therapy might be useful. We report a new case of childhood moya moya disease which developed a typical angiographic progressive pattern during three years between the first and the latest bilateral study. Clinical course of patient suggest that antiaggregating drugs and calcium antagonists might be useful in this disease although controlled studies are of course needed.

Impairment of polymorphonuclear leucocyte function during therapy with synthetic ACTH in children affected by epileptic encephalopathies.

Therapy with synthetic ACTH (zinc tetracosactide) in children affected by epileptic encephalopathy is often associated with a large number of infectious complications. We studied the phagocytic activity of polymorphonuclear leucocytes (PMN) in 9 children with West or Lennox-Gastaut syndrome, measuring PMN superoxide anion production during the phagocytosis of particles of Zymosan and after phorbol myristate acetate (PMA) stimulation. The test was performed before, during and after therapy with zinc tetracosactide (0.02 mg/kg/day for 15 days). At the same time plasma immunoglobulins, C3, C4, C3 activator and cortisol were determined. During treatment PMN phagocytic function was significantly reduced but returned to normal levels after suspension of therapy. The other hematological parameters considered remained within the normal range. During the follow-up of the patients we observed 15 infectious episodes (3 mucocutaneous candidiasis, 2 enterocolitis, 4 urinary tract infections, 1 otitis media, 3 bronchiolitis, 2 pneumonia). One of the patients died of a bilateral pneumonia. Three children were treated with ACTH on alternating days. In these patients PMN phagocytic activity was less impaired and 2 infectious episodes rapidly resolved. Alternate day ACTH therapy seems to be preferable.

Carbamazepine and carbamazepine-10,11-epoxide serum concentrations in epileptic children.

Carbamazepine (CBZ) and carbamazepine-10,11-epoxide (CBZ-epox) steady-state serum concentrations were measured in 82 children who had generalized tonic-clonic, or partial seizures. There was no correlation between a given dose and serum concentrations, whether other anticonvulsant drugs were used or not. Epileptic children receiving polytherapy (CBZ associated with one or more of the following drugs: phenobarbital, primidone, phenytoin, ethosuximide) had significantly different CBZ clearance values and percent CBZ-epox than did patients given CBZ alone. Even though given lower doses, girls had higher CBZ concentrations and lower CBZ clearance values than did boys. Older girls had lower serum concentrations of CBZ-epox than did younger girls. Seizure-free children had higher CBZ serum levels and lower CBZ clearance values than did those with uncontrolled seizures. The percentage of CBZ-epox in children with uncontrolled seizures was significantly higher than in children without seizures. These data indicate that serum levels of CBZ and CBZ-epox correlate more with factors such as associated drugs, age, and sex than with administered dose. Therefore, CBZ serum level monitoring represents an essential means of individualization of anticonvulsant drug therapy.