Francisco B. De Jorge

Subacute sclerosing leucoencephalitis: an epidemiological, clinical and biochemical study of 31 cases

Thirty-one cases of SSLE are reported. The diagnosis was based on the clinical picture, the marked increase of gammaglobulins in the cerebrospinal fluid, the typical electroencephalographic pattern, and the pathological examination. Intracellular inclusion bodies were found at the postmortem examination of 8 among 13 cases and in 1 of 7 cerebral biopsies. The mean age was 11.7 years, with the limits of 3 and 22 years. Males prevailed markedly over females (23:8). Patients from rural regions were the bulk of the series (77.4%). No definite regional predominance was demonstrated by the analysis of the geographic distribution. A seasonal influence was not evidenced. In 16 patients followed up to death, the average duration of the disease was 7 months, with a range from 2 to 20 months. In the clinical picture the constancy of myoclonus or losses of tonus, and psychiatric disorders was evidenced. The first symptom was the psychiatric alteration in 55.6% of the cases, myoclonus in 35.5% and grand mal seizures in 33.3%. Rigidity and pyramidal signs were very frequent, while the cerebellar syndrome was rare. Ophtalmoscopic alterations (edematous or pale disk, choroidits) were found in a third of the cases. In two cases an epizootic of household chicken was coincident with the onset of the disease. The blood copper concentrations determined in 8 cases were always above the normal range, while ceruloplasmin remained within the normal limits. The blood sulfur levels were high in 3 patients studied. The blood magnesium levels were variable in 6 patients studied.

Disorders of magnesium metabolism in epilepsy

Clinical observations in man (Griffiths, 1947; Randall, Rossmeisl, and Bleifer, 1959; Hanna, Harrison, Maclntyre, and Fraser, 1960; Vallee, Wacker, and Ulmer, 1960) and experimental investigations in animals (Kruse, Orent, and McCollum, 1932) have shown that magnesium (Mg) depletion causes a marked irritability of the nervous system, eventually resulting in epileptic seizures. The possibility that convulsions may occur in Mg deficiency led some investigators to study the metabolism of this metal in the epilepsies, and a trend to low blood concentrations was usually found (Denis and Talbot, 1921; Blumgarten and Rohdenburg, 1927; Hirschfelder and Haury, 1934, 1935; Haury, 1942; Suter and Klingman, 1955). In successive studies, Hirschfelder and Haury (1935, 1938) found a lowering of Mg and a rise of potassium in the blood of epileptic patients, leading to a definite increase in the K/Mg ratio, proportional to the severity of the disease. Concerning the metabolism of magnesium in the cerebrospinal fluid, Cohen (1927), McCance and Watchorn (1931), and Greenberg and Aird (1938) found in epilepsy the same range of magnesium levels as in other nervous diseases. Hirschfelder and Haury (1938) found low concentrations of Mg in the cerebrospinal fluid of epileptic patients, though the levels were higher than in the blood. These findings, associated with the fact that Mg is a known depressor of the central nervous system and is involved in several enzymatic processes, including the synthesis of acetylcholine, were not appreciated by some authorities in the field of epilepsy, even when the neurochemistry of this disease was analysed (Tower, 1960).

Contribuição ao estudo da ceruloplasmina I: valôres normais no sôro sangüíneo

Copper-oxidase activity (ceruloplasmin) was determined, according to Houchins method, in the blood serum of 65 normal white subjects, aged 20 to 45. The average concentration in this group was 33.4 ± 3.1 mgm./100 ml. In men (n = 40), however, the mean was 32.6 ± 3.1 mgm./100 ml, while in women (n = 25) it was 34.6 ± 2.8 mgm./100 ml; the difference between these means is significant. The dialysed blood serum of 10 normal subjects lost 62.8 ± 0.8 per cent of the copper-oxidase activity. No copper-oxidase activity was found neither in the urine of 20 normal subjects nor in the sperm of other 2 normal subjects.

The diagnosis of metachromatic leucodystrophy during life: metachromatic lipids in saliva and cerebrospinal fluid sediments and in the parotid glands

The authors report the study of saliva sediment in 4 cases of juvenile metachromatic leucodystrophy belonging to the same family (and else in a sister of one of these cases presenting the characteristic neurological picture but with no metachromasia demonstrable by the Austin test in urine or by biopsies), in 6 normal relatives of the patients with Scholz disease, in 9 cases of various diseases of the nervous system, and in 10 normal subjects. The presence of metachromatic bodies staining in a pinkish red colour with acid blue toluidine dye was demonstrated in the saliva sediment of the 4 cases of metachromatic leucodystrophy. In 2 of these patients biopsies of the parotid gland, stained with cresyl violet dye, showed the presence of intracellular brownish metachromatic bodies. In these 2 cases the study of cerebrospinal fluid sediment also disclosed the presence of metachromatic bodies. Furthermore, a chromatographic qualitative test for metachromatic lipids yielded positive results in saliva, cerebrospinal fluid, and urine sediments. The conclusion was drawn that the search for metachromatic bodies in cerebrospinal fluid and mainly in saliva sediment may be of help in disclosing or ratifying the diagnosis of metachromatic leucodystrophy during life.

Hepatolenticular degeneration clinical and biochemical study of three cases: estudo clínico e bioquímico de três casos

After a review of the fundamental steps in the history of hepatolenticular degeneration, the authors report 3 cases of the disease. Two patients died, the post-mortem examination having confirmed the clinical and laboratorial diagnosis. Among the neurologic particularities the presence, in one case, of flexion spasticity and cerebellar signs, besides the usual picture of Wilsons disease, is stressed. The Kayser-Fleischer corneal ring was always complete and bilateral. Among the unsteady features of the proteinogram of the cerebrospinal fluid, absence of pre-albumin, and lowering of i„ƒ1 and i„ƒ2 globulins were more frequently found. Low blood phosphorus and magnesium contents were found in our cases, seemingly for the first time in the literature. Special attention was dedicated to the study of liver and kidney functions through the proper functional tests. The impairment of liver function was mild, in a striking disagreement with the degree of the histologic picture of post-necrotic cirrhosis. Regarding the kidney, in two cases increased urinary excretion of aminoacids was found, associated with a slightly lowered tubular excretion in one of them. The genetic study could be more detailed in one of the cases, and included the search for Kayser-Fleischer corneal ring, the determination of copper in blood and urine, and of blood ceruloplasmin in the relatives, besides the cytogenetic study of the patient. Kayser-Fleischer ring was found in an otherwise asymptomatic sister, and disorders of copper metabolism were evidenced in her and some other relatives. The study of copper contents in the tissues confirmed the data of the literature regarding the overload in pancreas, kidneys, adrenal glands, liver, white and gray matter of the brain, thalamus, cerebellar cortex, and in the lenticular and caudate nuclei, as well as normal levels in the nails and low contents in the hairs. Presumably for the first time, an increase of copper concentration in the substantia nigra and red nucleus, as well as in the submaxillary gland and cerumen, was found. In the cerebrospinal fluid the total copper content was very close to the direct reacting copper level, and fell into the normal range. In bile our data agree with the references in the literature, the copper content being normal in total bile and in B-fraction, and low in A and C-bile. Low blood copper and ceruloplasmin contents and increased copper concentration in urine and saliva were found in the three cases. Blood direct reacting copper was determined only in one case and showed a moderate increase. The study of the metabolic balance showed a positive result for copper in the control periods, and a slight negative result for phosphorus. After the use of BAL, and especially of D-penicillamine, the copper balance became negative and the phosphorus balance turned out markedly negative. Low copper diet, cation exchanging resins or potassium sulphide were associated with the metal binding agents in different therapeutic schemes. The clinical improvement, although noticeable in case 3 after the use of D-penicillamine and estrogens, did not agree with the gratifying biochemical results.

Chemical composition of skeletal muscle

The present paper aims to presents standard values for the contents of water, sodium, potassium, calcium, magnesium, phosphorus, copper and iron in muscles (tibialis anterior, deltoid and pectoralis major) in individuals without any neurological conditions. This study shall constitute the basis for the interpretation of other data, still being gathered, relating these normal values with those obtained for muscles under pathological conditions.

Correlation between copper and transaminases in the blood serum in infectious hepatitis, during convalescence

Abstract Blood serum copper is greatly increased in infectious hepatitis (353.6 ± 33.9 μg/100 ml, n = 17) if compared to values found in normal subjects (108.1 ± 9.7 μg/100 ml, n = 20). Copper oxidase activity increases parallelly to copper elevation (68.7 ± 7.2 mg/100 ml, n = 17), compared to normal values (33.4 ± 3.1 mg/100 ml, n = 65). Copper and copper oxidase decrease during treatment, returning eventually to normal values. Their levels correlate directly with the severity of the disease, as well as with blood serum transaminase activities.

Balanços metabólicos do enxofre em pacientes com leucodistrofia metacromática

The metabolic balances of sulfur in two cases of the late juvenile form of metachromatic leucodystrophy were studied. A positive balance of sulfur was found in both patients, apparently not influenced by the type of diet (either mixed or vegetarian). This finding is in accordance with the current views on the pathogenesis of the disease, namely a sulfatidosis with low sulfatase activity.

Concentrações de cloro, sodio, potássio e fosforo no liquido cefalorraqueano normal

The content of Cl, Na, K and inorganic P was studied in the CSF of 25 patients. The CSF samples were normal in respect to pressure, aspect, color, cytology and protein content. The results of reactions for globulins and of the complement fixation tests for syphilis and cysticercosis were negative in all of them. CSF samples were obtained from patients with chronic neurologic conditions. They had no evidences of metabolic disturbances and were not accompanied by acute episodes such as convulsions. The concentrations of the inorganic components studied are reported in table two and their estimatives in table three. No influences of the sex, the age and the color of the patients upon the concentration were found. It was verified a positive correlation between Cl concentration and the concentration of Na and K. A negative correlation was found between the concentration of Cl and inorganic P. The values of such correlations are significant.

Arsênico em nervos periféricos normais do homem

As a contribution to the knowledge on inorganic arsenic concentration in peripheral nerves, a study was carried out in 20 nerve fragments (10 from N. ulnaris and 10 from N. tibialis) excised during necropsy from 20 corpses less than 24 hours after death and showing no apparent disease of the nervous system. The samples were ashed in an oven overnight at 550°C. The ashes were dissolved in a known volume of 2N-HC1. In this solution inorganic arsenic was determined by the Kingsley-Schaffert method. The results revealed no significant concentrations (vestiges) of inorganic arsenic in the peripheral nerves.