ABSTRACT
La adrenoleucodistrofia ligada al X (X-ALD), trastorno genético progresivo que afecta la sustancia blanca del SNC y la corteza suprarrenal, causa desde insuficiencia adrenal aislada y mielopatia lentamente progresiva hasta desmielinización cerebral devastadora. Presentamos un paciente masculino, 21 años de edad, tabaquista, con trastorno de la marcha de un año de evolución, paraparesia espástica e hiperreflexia en miembros inferiores. El análisis del líquido cefalorraquídeo (LCR) reveló proteinorraquia elevada, resultados negativos de bandas oligoclonales y virus Epstein Barr. Niveles de cortisol, ACTH, ácidos grasos de cadena muy larga en suero, fueron anormales. La RNM cerebral evidenció lesiones en sustancia blanca en región parietooccipital bilateral, comprometiendo el esplenio del cuerpo calloso, que realzaban con gadolinio. En RNM de columna cervical se observó lesión hiperintensa en secuencia T2 a nivel C7. Fue tratado con reemplazo adrenal. Presentamos un caso de X-ALD de inicio en adulto, con retraso en el diagnóstico debido a recursos limitados. Palabras claves: adrenoleucodistrofia ligada al X, paraparesia espástica, ácidos grasos de cadena muy larga, adrenomieloneuropatia
X- Linked adrenoleukodystrophy (X-ALD) is a progressive genetic disorder that affects CNS white matter and adrenal gland cortex, and causes from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. We present a 21 years old male patient, smoker, with one year history of gradually progressive trouble walking, unsteady gait, asymmetric spastic paraparesis, lower extremity deep tendon reflexes were increased. Cerebrospinal fluid (CSF) analysis revealed elevated CSF protein, CSF oligoclonal bands and Epstein Barr virus negative results. Basal cortisol, ACTH and very-long- chain fatty acids in plasma with abnormal results. All other laboratory tests were normal. Cerebral MRI showed parietooccipital white matter abnormalities involving the splenium of the callosum that enhanced with gadolinium. Cervical spinal cord MRI showed a short-segment T2 hyperintense lesion at C7. He was treated with adrenal replacement. We present a case of adult onset X-ALD and diagnostic delay owed to limited resources
Subject(s)
Humans , Male , Young Adult , Spinal Cord Diseases/diagnosis , Central Nervous System , Adrenocorticotropic Hormone/deficiency , Paraparesis, Spastic/pathology , Fatty Acids , Tendons , Cervical Vertebrae , Demyelinating Diseases , Adrenoleukodystrophy/diagnosis , Adrenoleukodystrophy/genetics , Genetic Diseases, Inborn/diagnosisABSTRACT
La xantomatosis cerebrotendinosa (XCT) es un raro desorden del almacenamiento de los lípidos, que se transmite en forma autosómica recesiva y se caracteriza por el depósito de colesterol y colestanol en diferentes tejidos, con preferencia por los tendones, los cristalinos y el sistema nervioso central. El diagnóstico de la enfermedad se confirma con la presencia de βcolestanol en sangre y de alcoholes biliares en orina. Obedece a una mutación del gen CYP27A1 (responsable de la síntesis de la enzima esterol 27-hidrolasa) que mapea en el brazo largo del cromosoma 2. Se manifiesta clínicamente por un deterioro neurológico progresivo, además de la presencia de xantomas tendinosos, cataratas juveniles, arterioesclerosis y diarrea crónica. Las alteraciones aparecen en las primeras dos décadas de la vida, pero el diagnóstico definitivo suele hacerse tardíamente (entre la tercera y la cuarta décadas). La terapéutica consiste en la administración de ácido quenodesoxicólico asociado a pravastatina o simvastatina. El tratamiento temprano y prolongado podría detener la progresión de la enfermedad. Se presenta un paciente de 40 años con esta enfermedad y se hace una descripción actualizada de la misma.
Subject(s)
Humans , Male , Adult , Xanthomatosis, Cerebrotendinous/diagnosis , Xanthomatosis, Cerebrotendinous/pathology , Xanthomatosis, Cerebrotendinous/drug therapy , Chenodeoxycholic Acid/therapeutic use , Cataract/etiology , Cataract/pathology , Cholestanol/genetics , Cholestanol/metabolism , Paraparesis, Spastic/etiology , Paraparesis, Spastic/pathologyABSTRACT
INTRODUCTION: Cassava (Manihot esculenta) is the basic foodstuff of more than 500 million persons in developing countries. Its edible root contains a glucoside with a high cyanogenic content, linamarina, which is hydrolysed in the human intestinal tract by the resident microbial flora, with liberation of HCN. Inadequate preparation and cooking followed by consumption whilst half-raw, especially in diets based almost exclusively on cassava for a long period of time, may lead to a neurological syndrome of damage to the upper motor neuron and the appearance of spastic paraparesia. CLINICAL CASE: We present the case of a 44 year old male agricultural worker from the Amazon region who had a predominantly crural spastic paraparesis which had been present for four years. His main food was 'mandioca brava' or wild cassava which was insufficiently cooked. Study of the CSF ruled out infection by HTLV and neurosyphilis. On magnetic resonance there was slight thoracic atrophy. CONCLUSIONS: In patients with spastic paraparesis, normal neuroimaging and CSF findings, and a normal family history, one should specifically investigate exposure to potentially toxic plants and foods, especially in regions in which nutrition is based on potentially cyanogenic roots or plants. It is necessary to improve the methods of processing and cooking cassava, and to avoid diets based almost entirely on this root, in order to reduce the potential neurotoxic damage which may be caused by this plant.