[Diagnosis and treatment of methylmalonic aciduria: a case report]. / Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso.

The methylmalonic aciduria is an organic acidemia, inherited as autosomic recessive trait, caused by a deficiency of the methylmalonyl-CoA mutase, or by defects in the biosynthesis of the cofactor adenosylcobalamin. Regarding the enzymatic defect, there are two forms: mut(o) with no detectable enzymatic activity and mut(-) with reduced activity. Its clinical presentation may vary from a severe neonatal form with acidosis and death, up to a progressive chronic form. Here we describe the case of a four year-old boy, with diagnosis of methylmalonyl-CoA mutase deficiency type mut(-) with an acute presentation. Molecular analysis of MUT gene identified two mutations c.607G>A (G203R) and c.2080C>T (R694W), later confirmed in the parents. The aim of this report is to highlight the importance of including the organic acid analysis in urine among the first line exams in acutely and severely ill children with undefined etiology. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the secuelae.

Diagnóstico y tratamiento de la aciduria metilmalónica: a propósito de un caso / Diagnosis and treatment of methylmalonic aciduria: a case report

La aciduria metilmalónica es una acidemia orgánica, autosómica recesiva, causada por la deficiencia de la metilmalonil CoA-mutasa, o por defectos en la biosíntesis del cofactor adenosilcobalamina. Del defecto enzimático, existen dos formas: mut (o) sin actividad enzimática y mut (-) con actividad reducida. Su presentación clínica puede variar desde una forma neonatal grave con acidosis y muerte, hasta una forma crónica progresiva. A continuación se describe el caso de un niño de 4 años de edad, con deficiencia de metilmalonil-CoA mutasa tipo mut (-), que se presentó en forma aguda. El estudio molecular del gen MUT mostró 2 mutaciones c.607G>A (G203R) y c.2080C > T(R694W), confirmadas posteriormente en los padres. El objetivo de este reporte es destacar la importancia de indicar el análisis de ácidos orgánicos en orina entre los estudios de primera línea, en todo niño con un cuadro clínico de presentación aguda y severamente enfermo, sin etiología definida. Por otra parte, se desea resaltar que el diagnóstico oportuno y definitivo es importante ya que permite iniciar un tratamiento específico, lograr una evolución favorable y prevenir las secuelas.

An injection from the past: fluoroscopic evidence of remote injections of radiopaque substances.

OBJECTIVE: Although uncommon, residual effects from contrast agents used more than 2 decades ago are possible. This case report is to alert clinicians to the implications of residual oil-based ionic contrast agents in the intrathecal space. CASE REPORT: A 70-year-old female with evidence of degenerative disc disease underwent a series of lumbar epidural steroid injections. Fluoroscopy during the procedure revealed diffuse residual intrathecal iophendylate (Pantopaque) dye. We were able to demonstrate unrestricted epidural spread of 1 mL iohexol (Omnipaque 180) alongside the preexisting dye. CONCLUSIONS: The goal of this case report is to highlight the potential of residual myelographic dye to complicate interventional procedures. Such residual dye can increase the level of difficulty in performing interventional pain treatments and perhaps the rate of complications associated with epidural injections, such as dural puncture. The presence of large amounts of residual oil-based intrathecal dye can lead to erroneous interpretations of the dye patterns as intraspinal lipoma or hemorrhage. As a consequence, the patient can be submitted to unnecessary diagnostic and therapeutic interventions. In addition, concerns of worsening oil-based dye-induced arachnoiditis with the use of epidural steroid injections can complicate the treatment of patients with back pain.

Isoflurane disrupts central pattern generator activity and coordination in the lamprey isolated spinal cord.

BACKGROUND: Although volatile anesthetics such as isoflurane can depress sensory and motor neurons in the spinal cord, movement occurring during anesthesia can be coordinated, involving multiple limbs as well as the head and trunk. However, it is unclear whether volatile anesthetics depress locomotor interneurons comprising central pattern generators or disrupt intersegmental central pattern generator coordination. METHODS: Lamprey spinal cords were excised during anesthesia and placed in a bath containing artificial cerebrospinal fluid and D-glutamate to induce fictive swimming. The rostral, middle, and caudal regions were bath-separated using acrylic partitions and petroleum jelly, and in each compartment, the authors recorded ventral root activity. The authors selectively delivered isoflurane (0.5, 1, and 1.5%) only to the middle segments of the spinal cord. Spectral analyses were then used to assess isoflurane effects on central pattern generator activity and coordination. RESULTS: Isoflurane dose-dependently reduced fictive locomotor activity in all three compartments, with 1.5% isoflurane nearly eliminating activity in the middle compartment and reducing spectral amplitudes in the anesthetic-free rostral and caudal compartments to 23% and 31% of baseline, respectively. Isoflurane decreased burst frequency in the caudal compartment only, to 53% of baseline. Coordination of central pattern generator activity between the rostral and caudal compartments was also dose-dependently decreased, to 42% of control at 1.5% isoflurane. CONCLUSION: Isoflurane disrupts motor output by reducing interneuronal central pattern generator activity in the spinal cord. The effects of isoflurane on motor output outside the site of isoflurane application were presumably independent of effects on sensory or motor neurons.

The effect of isoflurane and halothane on electroencephalographic activation elicited by repetitive noxious c-fiber stimulation.

Windup is the progressive increase in neuronal response to a repetitive noxious stimulus. This response is most often observed in the spinal cord, but it is unclear how this response is manifested in supraspinal structures. We investigated the effects of isoflurane and halothane on electroencephalographic responses to repetitive noxious electrical stimuli (20 pulses at 0.1, 1 and 3 Hz) applied to the tail in rats. Halothane and isoflurane concentrations were adjusted to 0.8 and 1.2 minimum alveolar concentration (MAC), where MAC is the concentration needed to prevent gross and purposeful movement in 50% of animals. At 0.8 MAC halothane, the 3 Hz stimulus caused electroencephalographic (EEG) activation primarily by increasing the median edge frequency (MEF), while at 1.2 MAC halothane the spectral edge frequency (SEF) was increased by the 1 and 3 Hz stimuli, and the MEF was increased by the 3 Hz stimuli. At 0.8 MAC isoflurane, the 1 and 3 Hz stimuli evoked EEG activation by increasing the MEF and SEF, while at 1.2 MAC only the MEF was increased by the 1 Hz stimulus. No EEG activation occurred with the 0.1 Hz repetitive stimulus with either isoflurane or halothane. These data suggest that repetitive electrical stimulation normally associated with windup in spinal neurons can evoke EEG activation.

Drastic decrease in isoflurane minimum alveolar concentration and limb movement forces after thoracic spinal cooling and chronic spinal transection in rats.

BACKGROUND: Individuals with spinal cord injury may undergo multiple surgical procedures; however, it is not clear how spinal cord injury affects anesthetic requirements and movement force under anesthesia during both acute and chronic stages of the injury. METHODS: The authors determined the isoflurane minimum alveolar concentration (MAC) necessary to block movement in response to supramaximal noxious stimulation, as well as tail-flick and hind paw withdrawal latencies, before and up to 28 days after thoracic spinal transection. Tail-flick and hind paw withdrawal latencies were measured in the awake state to test for the presence of spinal shock or hyperreflexia. The authors measured limb forces elicited by noxious mechanical stimulation of a paw or the tail at 28 days after transection. Limb force experiments were also conducted in other animals that received a reversible spinal conduction block by cooling the spinal cord at the level of the eighth thoracic vertebra. RESULTS: A large decrease in MAC (to /= 90%) in both chronic and acute cold-block spinal animals. CONCLUSIONS: The immobilizing potency of isoflurane increases substantially after spinal transection, despite the absence of a baseline motor depression, or "spinal shock." Therefore, isoflurane MAC is determined by a spinal depressant action, possibly counteracted by a supraspinal facilitatory action. The partial recovery in MAC at later time points suggests that neuronal plasticity after spinal cord injury influences anesthetic requirements.

Histoplasmosis diseminada crónica en niños: a propósito de un caso / Chronic disseminated histoplasmosis in children: a case report

Es describe un caso de histoplasmosis diseminada crónica en una pre-escolar femenina con manifestaciones clínicas de diarrea, dolor abdominal recurrente y ascitis. Ultrasonido y TAC abdominal reportaron lesión ocupante sólida de 10,6 x 7 cm en flanco y fosa ilíaca derecha; se demostró Histoplasma Capsulatum en citología del líquido ascítico. Los estudios para descartar afectación del sistema nervioso central, ojo y corazón resultaron sin alteraciones. Recibió tratamiento con Anfotericina B, antifúngico de primera elección en las formas diseminadas. Evolución posterior fue satisfactoria. Se presenta el siguiente caso debido a la importancia del diagnóstico y tratamiento precoz para evitar la alta mortalidad de esta patología