Symmetrical bithalamic hyperdensities in asphyxiated full-term newborns: an early indicator of status marmoratus.

Three severely asphyxiated full-term newborns showed tomographic findings of bilateral symmetrical hyperdensities restricted to the thalamic region. All these patients had a strikingly similar poor neurological outcome characterized by dystonia, severe mental retardation and acquired microcephaly. We presume that these bithalamic hyperdensities could be an early predictor of the later status marmoratus.

Tuberous sclerosis associated with partial gigantism in a child.

The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.

Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.

The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.

Tuberous sclerosis and Down syndrome: a casual association?

This paper reports on the clinical, neurophysiological and neuroradiological characteristics of a patient with Down syndrome unusually associated with tuberous sclerosis. In particular, epilepsy is investigated in detail and its polygraphic study and etiopathological factors are discussed. The most interesting findings are those related to the presence of a structural abnormality of the rolandic-parietal cortex, bilaterally, in the form of pachygyria.

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua.

Epilepsia partialis continua (EPC) has previously been reported in only two patients with Leigh syndrome (LS). We report here a subject in whom LS and partial deficit of cytochrome c oxidase (COX) were associated with EPC. Epilepsy in this subject appeared when neurologic impairment was clearly evident and MRI showed cortical lesions typically associated with congenital lactic acidosis.

Acute measles encephalitis of the delayed type in an immunosuppressed child.

The authors described a case of an immunosuppressed child with acute measles encephalitis of the delayed type (AMED). The authors also discussed the relationship between the AMED, epilepsia partialis continua and the neuroradiological picture, in which bilateral putaminal lucency was evident.

Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.

Kojewnikow's Epilepsia Partialis Continua: two cases associated with striatal necrosis.

The authors report two cases of children suffering from Epilepsia Partialis Continua (EPC). The first case concerned a boy primarily affected by abdominal neuroblastoma and secondarily by bilateral EPC; "pallidal posture" was the prominent clinical feature. An acute measles encephalitis was diagnosed and the CT scan showed necrosis of the putamina. The second case concerned a girl suffering from increased intracranial pressure due to suprasellar craniopharyngioma. Seven days after intervention, Diabetes Insipidus and EPC appeared. Enlargement of rolandic and sylvian spaces and lacunar necrosis of the putamen on the left side were also evident on the CT scan. The authors emphasize the significance of occasional metabolic disturbances, especially natremia, in the development of EPC.

Epilepsia partialis continua in a case of MELAS: clinical and neurophysiological study.

There are few reports in the literature dealing with the association between mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and epilepsia partialis continua (EPC) in children. We report the case of a child presenting with numerous stroke-like episodes associated with EPC which, despite therapy, were not controlled and aggravated the clinical condition of our patient. We present the neuroradiological, biochemical, genetic and muscle biopsy findings, and EEG characteristics, with attention to polygraphic recordings which were done during wake and sleep periods. We consider the correlation with other possible etiological factors relating to EPC and in particular coinvolvement of the basal ganglia as a cause of EPC in our patient.

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient.

EEG during wakefulness and sleep and somatosensory evoked potentials from the median nerve were recorded in a 3 year-old boy with hyperekplexia and his close relatives (parents and two sisters). Centro-temporal spikes during sleep were found in the patient and in the older sister, while somatosensory evoked potentials, in the patient, showed abnormally high amplitude over the centroparietal regions. Pathophysiological mechanisms of hyperekplexia are discussed and the existence of symptomatic forms is suggested.

Giant unruptured aneurysm of the middle cerebral artery manifesting with epilepsy: successful surgical treatment.

A case of a giant aneurysm of the middle cerebral artery (M.C.A.), presenting with history of visual hallucinations, is described. The aneurysm was successfully excised, with disappearance of previous symptoms. The interest of the case is constituted by the very unfrequent location for an aneurysm over 3 cm in diameter, by the occurrence of epilepsy as the first symptom and by the excellent response to surgical therapy. The morphology and location of giant aneurysms, their surgical treatment and especially the problem of aneurysm-induced epilepsy are discussed.

[Epilepsy and disorders of cortical development in children with congenital cytomegalovirus infection]. / Epilepsia y alteraciones del desarrollo cortical en niños con infección congénita por citomegalovirus.

INTRODUCTION: Neuroimaging and experimental studies have related cytomegalovirus (CMV) to certain neuronal migration disorders. MATERIAL AND METHODS: To define the electroclinical picture of children with epilepsy associated with disorders of cortical development (DCD) and congenital CMV infection, we conducted a clinical, electroencephalographic and neuroradiological study of 10 children with this condition. RESULTS: Eighty per cent of them had dismorphic traits, or malformations outside CNS. All showed other neuroradiological signs (cerebral calcification, white matter damage, porencephaly). Six patients with bihemispheric DCD (agyria-pachigyria, 2; 'poligyria', 1; schizencephaly, 1; bilateral opercular DCD, 2) showed: Tetraparesis, severe or profound mental deficiency, early onset epilepsy (mean age at onset: 11 months) with spasms, tonic seizures, partial seizures, and multifocal paroxysms or unusual diffuse sharp Alfa-Beta EEG activity. One child developed Epilepsia Partialis Continua. Children with bilateral opercular DCD evolved to a continuous spike and wave (SW) electrical status during wakefulness and sleep, linked to a worsening of psychomotor derangement. Four patients with unilateral hemispheric DCD (pachigyric or 'poligyric') showed: Congenital hemiparesis, mild intellectual deficiency, motor seizures (orofacial, hemiclonic, generalized) beginning in the third year of live, atypical absences with focal phenomena, frequent focal rhythmic SW discharges during wakefulness, and continuous SW status during sleep (CSWS). CONCLUSIONS: A wide spectrum of DCD due to congenital CMV infection is documented. Characteristic electroclinical pictures related to the extent and topographical distribution of the DCD are recognized, which may lead to an appropriate diagnosis and prognosis.

Neurofibromatosis associated with central alveolar hypoventilation syndrome during sleep.

We describe polygraphic respiratory alterations during sleep in a child with neurofibromatosis. The patient, a four-year-old boy, had a medical history of neurofibromatosis and recurrent acute respiratory failure responsive to mechanical ventilation. All-night polysomnography showed severe nocturnal hypoventilation with marked hypercapnia (TcPaCO2 70 mmHg) and hypoxemia (SaO2 less than 40%). Nocturnal hypoxemia and hypercapnia and depressed response to the hyperoxic hypercapnic test confirmed the diagnosis of central hypoventilation syndrome. Cerebral magnetic resonance imaging disclosed lucent areas in the globus pallidus, mesencephalus and left upper pons. Therapy with nocturnal nasal positive bilevel ventilation reversed nocturnal hypoxemia and hypercapnia. This study suggests that patients with neurofibromatosis should be investigated for concomitant severe hypoventilation, particularly when clinical symptoms suggest brain stem lesions.

Microgyria associated with Sturge-Weber angiomatosis.

A case is reported of an infant affected with Sturge-Weber disease who underwent left hemispherectomy due to untreatable seizures when 97 days old. Pathological analysis of the surgical specimens revealed the presence of four-layered microgyric cortex below the angiomatosis, intense gliosis, and the presence of calcifications of both the abnormal cortex and the underlying white matter. These findings suggest that the early infantile form of Sturge-Weber disease is associated with a developmental disorder of the cortical organization. Such abnormalities are consistent with the presence of an epileptogenic condition that is unresponsive to pharmacological treatment.

[Severe infant myoclonic epilepsy (author's transl)]. / Epilepsie myoclonique grave de la première année.

Twenty children (15 males and 5 females) suffering from a particular type of myoclonic epilepsy were submitted to a longitudinal study. All children were neurologically normal. Familial antecedents existed for epilepsy in 25% of the cases (5/20) and for febrile convulsions in 15% (3/20). The first fit appeared with fever at the mean age of 6 months in all cases but one of clonic type. Frequent similar febrile or afebrile clonic seizures recurred in all subjects before the age of 12 months. At this time the EEG was normal in 14 cases and brief discharges of generalized spike-waves during ILS or during sleep were present in 6 cases only. Later, frequent non-febrile clonic unilateral or generalized fits, frequent atypical 'absences' often accompanied by jerks, high photosensitivity and non-epileptic erratic myoclonias appear. Nevertheless, atomic and/or tonic seizures did not appear. The evolution is characterized by the persistence of fits and the appearance of severe language disorder and light cerebellar and pyramidal signs. The authors present their results and discuss the nosological problems of this severe infant myoclonic epilepsy.

Sleep and benign partial epilepsies of childhood: EEG and evoked potentials study.

The electroclinical picture and nosological limits of benign partial epilepsy of childhood with rolandic spikes (BERS) have been better defined by nocturnal sleep records. In all stages of sleep, there is a significant increase in frequency and amplitude of rolandic spikes (RS) without change of their morphology. Another interesting observation is the appearance of independent spike foci in sleep, or brief subclinical spike wave discharges which are limited to the state of drowsiness. More recently, other types of partial epilepsy of childhood with benign evolution have been identified: (a) partial epilepsy with induced spike representing somatosensory evoked potentials; (b) benign psychomotor epilepsy; (c) partial epilepsy with occipital spike waves. In all these forms, the sleep records are essentially similar to those in BERS and have been very helpful in the nosological identification of these forms of epilepsy. For this reason, the sleep records of these special forms are truly informative for the clinician from the diagnostic and prognostic viewpoint. On the other hand, some investigators, have pointed out that, in the initial stage of these benign forms of partial epilepsy, there may be more or less significant intellectual impairment and behavioral disorder, sometimes accompanied by frequent brief absences. From the EEG viewpoint, this condition is characterized by brief discharges of slow spike wave complexes amounting to a pattern of "electrical status epilepticus". This special electroclinical condition mimics the Lennox-Gastaut syndrome but is generally self-limited. Thus, a correct differential diagnosis is very important from the diagnostic viewpoint. There is good evidence that sleep records permit an earlier identification of these conditions and strongly contribute to a correct differential diagnosis. In the benign partial epilepsy the SEPs, during awake and sleep, morphology and latency are normal, while the N60 amplitude is increased. A group of children with benign partial epilepsy shows EEG spikes evoked by tapping, and giant N60 component. This giant component persists during sleep and is not specific for any type of benign partial epilepsy. In conclusion, the results of sleep recordings are conducive to a correct diagnosis and better definition of the nosological delineation of partial epilepsies in childhood; they also provide a better comprehension of their evolution, and thus of their prognosis. The Evoked Potentials seem be a useful tool in the study of benign partial epilepsy.

Early myoclonic epileptic encephalopathy (E.M.E.E.).

The authors describe the electroclinical aspects and evolution of nine cases of myoclonic epileptic encephalopathy which began between two days and ten weeks of life. At onset it is associated with: myoclonic jerks, partial fits and periodic paroxysmal EEG abnormalities. Repeated spasms coexisting with partial fits and 'suppression-bursts' (both appearing later) complete the electroclinical picture. The neurological status (initially normal) progressively deteriorates leading within a few months to a decerebrate posture with opisthotonos. In spite of thorough neuroradiological, biochemical, cytological, metabolic, and ultrastructural investigations, the etiology remained unknown. However, the electroclinical and evolutive patterns are similar to those of some metabolic diseases (Polyodystrophy, Non-Ketotic Hyperglycinemia, etc.). All these observations display a homogeneous electroclinical pattern for which the authors propose the name of Early Myoclonic Epileptic Encephalopathy. This type deserves to be classified as a particular electroclinical entity among the epileptic encephalopathies of the first year of life; since its course is regularly downhill in all cases there may be a familial recurrence due to the possibility of a metabolic etiology.

Transient focal leukoencephalopathy following intraventricular methotrexate and cytarabine. A complication of the Ommaya reservoir: case report and review of the literature.

A 14-year-old boy, suffering from acute lymphoblastic leukemia with meningeal involvement, was treated with intraventricular methotrexate and cytosine arabinoside, administered via an Ommaya reservoir (OR). Three months later, right occipital headache, vomiting, and lethargy appeared. Cerebrospinal fluid specimens showed increased proteins and a right frontal slow-wave focus was evident on the EEG recording. The computed tomography scan revealed white matter hypodensity within the right frontal and rolandic regions. After injection of medium contrast, an abscesslike hyperdensity appeared, surrounding both a well-placed cannula tip and the right frontal horn of the lateral ventricle. Brain swelling and shift signs were also evident. Nine cases of focal methotrexate leukoencephalopathy have been previously reported, and in six of these there was a misplaced OR cannula tip. The focal methotrexate leukoencephalopathy seems to be related to the neurotoxicity of the drugs administered, and may also exist with a well-placed OR cannula tip. Immediate removal of the catheter may be associated with a benign evolution.

4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern.

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.

Status epilepticus in benign rolandic epilepsy manifesting as anterior operculum syndrome.

We report the fourth case of partial status epilepticus (SE) in benign epilepsy of childhood with rolandic spikes (BECRS). The child suffered long-lasting attacks involving the mouth and pharynx, clinically manifest as speech arrest, sialorrhea, and drooling. Both clinical and electroencephalogram (EEG) data were compatible with the diagnosis of BECRS. Only during SE was the clinical picture similar to that observed in the operculum or Foix-Chavany-Marie syndrome. SE remission was obtained with the usual antiepileptic drug therapy (diazepam, clobazam, valproate). EEG records showed additional patterns of continuous spike-waves during slow sleep and specific inhibition and blocking of interictal centrotemporal spikes by mouth and/or tongue voluntary movements.