<title language="spa">Neuro-lepra: valor de la electromiografia Neuro-leprosy: electromyographic studies

Dada la frecuencia con que la lepra afecta al sistema nervioso, consideramos de interés realizar un estudio electromiográfico en zonas corporales clínicamente sanas. Hemos elegido para tal fin 14 enfermos que no tenían lesión sensitivo-motora clínicamente perceptible en el nervio cubital izquierdo. Hemos estudiado tambén un grupo de control de 5 enfermos con lesión evidente del mismo nervio. Se ha comprobado que de los 14 enfermos que aparentemente no tenían lesión del nervio cubital izquierdo, en 12 de ellos surgieron alteraciones electromiográficas que señalan la lesión del nervio, aunque en um grado menor que en el grupo de control. Este hecho nos hace pensar que la agresión que sufre el sistema nervioso periférico es de una extensión mayor que lo hace suponer la clínica, o que las lesiones anatómicas no retrogradan como nos lo sugiere el examen de los pacientes.Considering the frequency of the peripheral nervous system envolvement in leprosy 14 patients without clinical signs indicating impairment of the left ulnar nerve were submitted to electromyographic studies. All were chronic cases in which the disease had an evolution of three years for the most recent one, the longest during thirty one years. All patients were under leprosy treatment: nine had lepromatous leprosy, four had tuberculoid form, one had a dimorfous form. At the same time, as a control group, were studied 5 patients presenting clinical signis of injury of the left ulnar nerve. An electromiograph DISA with 3 channels, a Multistin estimulator and concentric electrodes were employed. In all the 19 cases the espontaneous activity, the type of recruiting reaction and the conduction velocity were analysed. Results were synthetized in Tables 1 and 2. The finding of electromyographic abnormalities in clinically healthy territores of 12/14 patients examined lead to the conclusion that in leprosy the agression to the peripheral nervous system is more extensive than that a clinical examination may disclose or else that the anatomical injuries to the nervous fibers do not retrogradate completely under the treatment's action as it may be infered by the clinical symptomatology

Neuro-lepra: valor de la electromiografia

Dada la frecuencia con que la lepra afecta al sistema nervioso, consideramos de interés realizar un estudio electromiográfico en zonas corporales clínicamente sanas. Hemos elegido para tal fin 14 enfermos que no tenían lesión sensitivo-motora clínicamente perceptible en el nervio cubital izquierdo. Hemos estudiado tambén un grupo de control de 5 enfermos con lesión evidente del mismo nervio. Se ha comprobado que de los 14 enfermos que aparentemente no tenían lesión del nervio cubital izquierdo, en 12 de ellos surgieron alteraciones electromiográficas que señalan la lesión del nervio, aunque en um grado menor que en el grupo de control. Este hecho nos hace pensar que la agresión que sufre el sistema nervioso periférico es de una extensión mayor que lo hace suponer la clínica, o que las lesiones anatómicas no retrogradan como nos lo sugiere el examen de los pacientes

Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis

Aromatic l-aminoacid decarboxylase (AADC) deficiency is a neurotransmitter defect leading to a combined deficiency of catecholamines and serotonin. Patients are usually detected in infancy due to developmental delay, hypotonia, and extrapyramidal movements. Diagnosis is based on an abnormal neurotransmitter metabolite profile in CSF and reduced AADC activity in plasma. An elevation of vanillactic acid (VLA) has been described as the only abnormality detected in organic acid analysis (OA) of urine. We report a patient who presented in the neonatal period with lethargy, hypotonia, metabolic acidosis, and hypoglycemia. Blood ammonia, lactic acid, and acylcarnitines were normal, but OA of a urine sample showed a small increase of VLA, raising the suspicion of AADC deficiency. The patient was lost to follow-up until the age of 8 months, when he presented with dystonia, abnormal movements, oculogyric crises, and hypothermia. Repeat OA showed not only increased levels of VLA, but also increased vanilpyruvic acid (VPA), N-acetyl-vanilalanine (AVA) and N-acetyl-tyrosine (NAT). Neurotransmitter analysis in CSF showed increased vanilalanine (1200 nmol/L, ref <100) with decreased levels of 5-hydroxy-indoleacetic acid (5-HIAA, < 5 nmol/L; ref 152-462), homovanillic acid (HVA, 83 nmol/L; ref 302-845), and methoxy-hydroxy-phenyl-glycol ( <5 nmol/L; ref 51-112). AADC activity in plasma was nearly undetectable. In the urine, low excretion of vanilmandelic acid ( <0.3 micromol/mmol creat; ref 0.3-20) and 5-HIAA (0.9 micromol/mmol creat; ref 4-18), was found, but HVA was normal and dopamine even elevated. This contradictory phenomenon of hyperdopaminuria has been described earlier in AADC deficient patients. We postulate that VPA and AVA could originate from vanilalanine (through a transaminase and an acetylase respectively), while NAT could originate from tyrosine through an AA acetylase. This report expands the clinical presentation of AADC deficiency and adds new markers of the disease for OA analysis, improving detection of AADC deficient patients in general metabolic screening procedure

Acidúria glutárica tipo 1: variabilidade fenotípica. Estudo de seis pacientes

Estudamos seis pacientes com acidúria glutárica tipo I, em quatro famílias. Observamos variações intensas na apresentação clínica, mesmo entre elementos da mesma família. Três pacientes evoluiram sem alterações até o início das anomalias neurológicas, que se manifestaram como encefalite-símile, no primeiro ano de vida. Uma criança apresentou atraso precoce do desenvolvimento, sem episódios agudos de descompensação. Dois pacientes não têm alteração cognitiva; um deles apresenta leve tremor associado a quadro coreoatetóide desde o primeiro ano de vida, enquanto o outro teve apenas duas crises convulsivas afebris quando lactente. Três crianças apresentam distonia como sequela, não sendo capazes de sentar ou firmar a cabeça. Os seis pacientes apresentam macrocrania e a neles tomografia computatorizada de crânio demonstra aumento dos espaços liquóricos em regiões fronto-temporais. O estudo dos ácidos orgânicos urinários dos pacientes demonstra elevação dos níveis do ácido glutárico

THE PATHOBIOCHEMISTRY OF UREMIA AND HYPERARGININEMIA FURTHER DEMONSTRATES A METABOLIC RELATIONSHIP BETWEEN UREA AND GUANIDINOSUCCINIC ACID

To better understand the biosynthesis of guanidinosuccinic acid, we determined urea, arginine, and guanidinosuccinic acid levels in nondialyzed uremic and hyperargininemic patients. These substances were also determined during several years of therapy in one hyperargininemic patient. Interrelationships of guanidinosuccinic acid levels with their corresponding urea and arginine levels were assessed by linear correlation studies. In uremic patients, a significant positive linear correlation (r = .821, p < .001) was found between serum urea and guanidinosuccinic acid levels. A significant positive linear correlation was also found between serum urea levels and urinary guanidinosuccinic acid levels (r = .828, P < .001), but not between serum arginine levels and urinary guanidinosuccinic acid levels in hyperargininemic patients. In the intrahyperargininemic patient study, a similar significant positive correlation was found between serum urea levels and the corresponding urinary guanidinosuccinic acid levels (r = .866, P < .001); the correlation between serum arginine levels and the corresponding urinary guanidinosuccinic acid levels was smaller. The presented analytical findings in uremic and hyperargininemic patients clearly demonstrate a metabolic relationship between urea and guanidinosuccinic acid