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Biomedical subjects

V Colamaria

Publications and source records attributed to V Colamaria.

28 records · Page 2Linked to original sources
PubMed1988

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.

Angiography↗
PubMed1988

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.

Asphyxia Neonatorum↗
PubMed1988

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.

Child↗
PubMed1982

[Severe infant myoclonic epilepsy (author's transl)].

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.

Electroencephalography↗
PubMedDate not supplied

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.

Age Factors↗
PubMedDate not supplied

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.

Acidosis, Lactic↗
PubMedDate not supplied

Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case.

A case of an infant suffering from progressive lethargy, sparse scalp hair, autistic-like behavior, myoclonias, and drug-resistant generalized seizures is reported. Laboratory investigations revealed, in the absence of metabolic acidosis, an increased urinary excretion of 2-ketoglutaric acid and a small peak of 3-hydroxyisovaleric acid. The serum biotinidase activity was 0.15 nmol min-1 ml-1 (normal range 5.2 +/- 0.9) in the propositus and 0.310 and 0.420 in her father and mother, respectively. The interictal EEG showed multifocal abnormalities; numerous seizures were recorded, with the pattern of true tonic-clonic fits, exceptional in infancy. Also myoclonias, auditory myoclonus, and repetitive startles were documented. Because of dramatic improvement of all symptoms and signs after starting biotin (5 mg twice daily), the authors suggest a therapeutical trial in all drug-resistant infantile seizures.

Amidohydrolases↗
PubMedDate not supplied

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.

Brain↗
PubMedDate not supplied

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.

Adult↗