Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.

Hereditary spastic paraplegias are an uncommon group of monogenic diseases that include 79 types of genetic disorders. The most frequent cause of recessive hereditary spastic paraplegia is a mutation in the spastic paraplegia gene type 11 followed by type 15. This group is usually associated with non-specific clinical features like cognitive decline and may precede the progressive weakness and spasticity of lower limbs. The magnetic resonance imaging hallmark of hereditary spastic paraplegia is thinning of the spinal cord. However, brain magnetic resonance imaging may provide relevant clues for specific hereditary spastic paraplegia subtypes, and thinning of the corpus callosum has been described as the most frequent abnormality in almost one-third of recessive hereditary spastic paraplegias. Moreover, a characteristic abnormality affecting the forceps minor of the corpus callosum has been recently reported as the "ears of the lynx" sign and is highly suggestive of type 11 and 15 hereditary spastic paraplegias. We report a patient who was diagnosed with hereditary spastic paraplegia type 11 by exome genetic testing, presenting the ears of the lynx sign in the first magnetic resonance imaging assessment.

Accuracy of nigrosome-1 detection to discriminate patients with Parkinson's disease and essential tremor.

PURPOSE: The use of susceptibility weighted imaging in high field magnetic resonance imaging scanners can detect the nigrosome-1 area located in the caudo-lateral region of the pars compacta in the substantia nigra. This structure comprises a significant amount of dopaminergic neurons and degenerates in the early stages of Parkinson's disease. Essential tremor is a neurological condition that in some cases could be confused with the early stages of Parkinson's disease with a possible error in clinical diagnosis. Our purpose is to evaluate the accuracy of nigrosome-1 detection by high resolution magnetic resonance imaging to discriminate Parkinson's disease from essential tremor. METHODS: A case-control study compared patients with a clinical diagnosis of Parkinson's disease and essential tremor. Magnetic resonance imaging studies were performed using a 3T magnetic resonance imaging scanner. The susceptibility weighted imaging sequence was obtained in the axial plane with an isotropic voxel of 0.75 mm. Two independent neuroradiologists evaluated the images without access to clinical patient data. RESULTS: Sixteen patients were included in each group (Parkinson's disease and essential tremor). Average age: Parkinson's disease group: 71.3 (SD 6.3) and essential tremor group: 68.3 (SD 12.3). For the first evaluator, the nigrosome-1 area was absent in 15 patients with Parkinson's disease and in two with essential tremor and for the second evaluator was absent in 15 patients with Parkinson's disease and four with essential tremor. The sensitivity/specificity for the diagnosis of Parkinson's disease was 93.75%/87.5% for the first evaluator and 93.75%/75% for the second evaluator. CONCLUSION: The detection of the nigrosome-1 area is a useful tool in the differential diagnosis between Parkinson's disease and essential tremor, with high sensitivity and specificity.

Rara presentación de un linfoma espinal: informe de caso y diagnóstico mediante resonancia magnética / Rare presentation of a spinal lymphoma: case report and diagnosis by magnetic resonance imaging

El linfoma primario del sistema nervioso central es una forma de enfermedad extraganglionar originada en el cerebro, la leptomeninges, la médula espinal o los ojos. Los tumores espinales son neoplasias de baja prevalencia y pueden causar una morbimortalidad neurológica considerable. El linfoma aislado que surge dentro del conducto dural es la forma menos común de linfoma primario del sistema nervioso central: representa aproximadamente el 1% de los casos y se observa más a menudo en el contexto de diseminación secundaria que como el sitio primario de origen. Los síntomas son inespecíficos y dependen del nivel espinal involucrado. La presentación es insidiosa e incluye dorsalgia, debilidad y dificultad progresiva para la deambulación. La resonancia magnética es la modalidad de elección para búsqueda de lesiones dentro del conducto espinal/raquídeo, en pacientes que presentan síntomas neurológicos. El tratamiento quirúrgico no resulta útil, y el objetivo principal de la cirugía es conocer el diagnóstico histológico. (AU)

A primary central nervous system lymphoma is a form of extranodal disease originating in the brain, leptomeninges, spinal cord, or eyes. Spinal tumors are low-prevalence neoplasms and can cause considerable neurological morbidity and mortality. An isolated lymphoma emerging within the dural canal is the rarest form of primary central nervous system lymphoma: it accounts for approximately 1% of cases occurring more often in the context of secondary dissemination than as the primary site of origin. Symptoms are nonspecific and depend on the spinal level involved. The presentation is insidious and includes dorsalgia, weakness, and progressive difficulty in ambulatory function. MRI is the modality of choice to search for lesions within the spinal/rachial canal in patients presenting with neurological symptoms. Surgical treatment is not helpful, and the main objective of surgery is to know the histological diagnosis. (AU)

[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, association with HELLP and magnetic resonance spectroscopy findings]. / Deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga, asociación con HELLP y hallazgos en la espectroscopia por resonancia magnética.

LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.

Deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga, asociación con HELLP y hallazgos en la espectroscopia por resonancia magnética / Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, asociation with HELLP and magnetic resonance spectroscopy findings

La deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga (LCHAD) es uno de los trastornos de la betaoxidación de ácidos grasos. La presentación clínica más frecuente incluye trastornos de conciencia, hipoglucemia y disfunción hepática gatillados por ayuno prolongado o infecciones. Una vez desencadenada, la crisis metabólica presenta alta mortalidad. El síndrome HELLP y la hepatitis grasa aguda del embarazo (AFLP) son trastornos del tercer trimestre del embarazo. Se ha asociado estas enfermedades durante la gestación con defectos hereditarios de la betaoxidación en el feto. Comunicamos el caso clínico de un trastorno de beta oxidación (deficiencia de LCHAD) asociado a HELLP materno. Describimos como hallazgos en la resonancia magnética espectroscópica un pico de ácido láctico y lípidos significativo. La pesquisa de estos trastornos de la betaoxidación al nacimiento, ante el antecedente de HELLP materno, permite el diagnóstico de la enfermedad previo al desarrollo de los síntomas.

LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.