Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome.

Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified.

Neurofibromatosis type one and West syndrome: a relatively benign association.

Fifteen patients with neurofibromatosis type one (NF1) and West syndrome (WS) were studied. The evolution of WS was clearly different from that seen in the other neurocutaneous syndromes, especially tuberous sclerosis. Steroids were efficacious and spasms disappeared. There was no relapse after discontinuation of steroids and antiepileptic drugs were successfully stopped several years later. Mental outcome was also very good. The association of both conditions does not seem to be a coincidence. WS with NF1 seems remarkably benign and resembles idiopathic WS more than symptomatic WS.

Epilepsy and brain tumors in infancy and adolescence.

Four boys and four girls with brain tumors who were admitted to our department in the last 8 years are herein described. They presented with epileptic fits, which began before the age of 14 years, with neither intracranial hypertension nor localizing signs during the first 6 months of the illness. The length of time between the first fit and the diagnosis of a tumor ranged from 2 months to 11 years (median of 3 years), during which period all patients but one received anticonvulsant therapy. The nontreated patient was under psychiatric treatment for 1 year. The electroencephalographic evolution was disconcerting, showing asymmetry of the recording with association of slow polymorphic waves and acute irregular waves, suggesting encephalitis. The neuroradiological diagnosis was made by cerebral arteriography in one patient and in the others by angiography and CT scans (which revealed hypodense cerebral areas in five cases and hyperdense areas in the other two). The histology of the tumor was that of a grade I astrocytoma in six cases; a grade III oligondendroglioma in one case, and a meningioma in the other. All patients underwent surgical treatment. Four also received radiation therapy, two for a partially excised astrocytoma and one each for an oligodendroglioma and a meningioma. Postoperatively, all patients were put on anticonvulsant drug therapy. There were no mortalities. To date, only one astrocytoma has recurred. The sequellae observed were hemiparesis in one case and marked psychomotor deficit in another. These two patients also still have epileptic fits. The others are all psychologically and neurologically normal, and two are now off antiepileptic drugs.

Porencephalic congenital cysts with hydrocephalus.

UNLABELLED: The therapeutic criteria according to tomographic findings are reviewed. 10 children, 6 male and 4 female, with porencephalic congenital cysts were studied. Early symptoms began within the first 6 months of life in 9 cases, and at the age of 5 years in 1. The most frequent symptoms were: seizures in 3; motor deficit in 5; retarded psychomotor development in 7; endocranial hypertension syndrome in 7; symmetric macrocrania in 7; paresis of the motor ocular nerves in 4. Preoperative studies: X-ray films-1 each patient-showed diastasis of sutures in 6 and cranial asymmetry in 2. Electroencephalograms-6 patients-were abnormal and diffuse in 3, hipsarrhythmic in 2, and focal in 1. CT-1 each patient-showed porencephalic cysts in all the patients; ventricular dilatation in 9; a single ventricle in 1, and a shift of the midline in 5. Postoperative studies: EEG, 1 each patient; CT, 1 each patient. SURGICAL TREATMENT: 8 patients underwent peritoneal shunts and 2 atrial shunts. Plastic surgery of the dysraphy was also performed. Postsurgical treatment: Rehabilitation and anti-convulsive treatment-4 patients. There were no deaths among the patients. The morbidity improved.

Multicore disease. Report of a case with lack of fibre type differentiation.

A six year old boy had congenital hypotonia and nonprogressive proximal muscular weakness, with mild abnormalities in the E. M. G. and normal serum enzyme levels. There was lack of fibre type differentiation in the quadriceps muscle biopsy. The fibres had high oxidative enzyme activity and low ATPase 9.4 activity. In almost every fibre there were multiple areas of focal decrease of oxidative enzyme activity, resembling in few of them the lesion described in Central Core Disease. There was abscence of mitochondria and disorganization of the sarcomere with streaming of the Z line within the lesions. The clinical and histological observations have close similarity to the cases first described by A. G. Engel et al. in 1971 as "Multicore Diseases" and to other similar reported cases.