Fernando Arita

Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families.

Four patients with leukoencephalopathy with vanishing white matter from three unrelated Brazilian families are reported. In all cases the initial symptoms occurred in the three first years of life. In three cases the onset was acute and at least in two patients the involvement of the white matter preceded the clinical symptoms. Only cerebellar and pyramidal signs were present and persisted throughout the evolution. An episodic course with worsening of the symptoms during febrile illnesses was noted in one patient. In three patients a significant deceleration of the head growth was noted. In one family, brother and sister were affected but the twin brother of the boy was free from the disease. In another family, the patient had a sister who died at 13 years of age from an identical disease not diagnosed at that time. In one family, the parents were first cousins. In all patients, serial magnetic resonance imaging and magnetic resonance spectroscopy showed the characteristic picture of the involvement of the white matter with increasing signal intensity close to that of the cerebrospinal fluid.

A Brazilian girl with the Rett syndrome.

A Brazilian girl with the Rett syndrome is reported. The criteria for this diagnosis in this case are discussed. This is the first reported case of the Rett syndrome in the Southern Hemisphere.

Progressive Bulbar Paralysis of Childhood (Fazio-Londe Disease) with Deafness

A 10-year-old girl presented a progressive bulbo-pontine paralysis associated with sensorineural deafness. Death occurred 13 months after the initial symptoms. The main neuropathological findings disc

Síndrome de Rett: análise dos primeiros cinco casos diagnosticados no Brasil

Five cases of patients with the Rett syndrome are reported. The criteria for this diagnosis in these cases are discussed. These are the first cases of the Rett syndrome reported in Brazil and the authors call attention to the fact that this syndrome seems to be in our country as frequent as in USA, Europa and Japan where it has been more studied.Five cases of patients with the Rett syndrome are reported. The criteria for this diagnosis in these cases are discussed. These are the first cases of the Rett syndrome reported in Brazil and the authors call attention to the fact that this syndrome seems to be in our country as frequent as in USA, Europe and Japan where it has been more studied.

Subacute sclerosing panencephalitis: clinical aspects and prognosis. The Brazilian Registry

Subacute sclerosing panencephalitis (SSPE) is an inflammatory neurodegenerative disease related to the persistence of measles virus. Although its frequency is declining because of measles eradication, we still have some cases being diagnosed. With the aim to describe epidemiological aspects of SSPE in Brazil, we sent a protocol to Child Neurologists around the country, 48 patients were registered, 27 (56%) were from the southeast region, 34 (71%) were male and 35 (73%) white, 27 (56%) had measles, 9 (19%) had measles and were also immunized, 7 (14%) received only immunization, 1 patient had a probable neonatal form. Mean time between first symptoms and diagnosis was 12 months (22 started with myoclonus or tonic-clonic seizures, 7 (14%) with behavioral disturbances); 36 patients (75%) had EEG with pseudoperiodic complexes. Follow up performed in 28 (58%) patients showed: 12 died, 2 had complete remission and the others had variable neurological disability. Our data shows endemic regions in the country, a high incidence of post-immunization SSPE and a delay between first symptom and diagnosis.

Doença de krabbe (leucodistrofia a células globóides) a propósito de cinco observações

A clinical study on five cases of Krabbes disease (globoid cell leukodystrophy) was performed. A final diagnosis was done either with post-mortem study (two cases) or by enzymatic assays carried on cultured fibroblasts (two cases). Peripheral nerve biopsy for electron microscopy was performed in all cases, and the ultrastructural alterations characteristics of Krabbes disease were always found. The authors emphasize the suggestive clinical and laboratory data which enable the diagnosis of Krabbes disease in the absence of the ultrastructural exam of peripheral nerve, or the enzymatic assays not performed in this country.A clinical study on five cases of Krabbes disease (globoid cell leukodistrophy) was performed. A final diagnosis was done either with post-mortem study (two cases) or by enzymatic assays carried on cultured fibroblasts (two cases). Peripheral nerve biopsy for electron microscopy was performed in all cases, and the ultrastructural alterations characteristics of Krabbes disease were always found. The authors emphasize the suggestive clinical and laboratory data which enable the diagnosis of Krabbes disease in the absence of the ultrastructural exam of peripheral nerve, or the enzymatic assays not performed in this country.