[Reversible alterations in the dentate nuclei and rapid-onset cerebral atrophy due to neurotoxicity caused by lithium]. / Alteraciones reversibles en los nucleos dentados y atrofia cerebral de rapida instauracion debido a neurotoxicidad por litio.

INTRODUCTION: Treatment with lithium can cause several neurological side effects, even at therapeutic levels. CASE REPORT: We report the case of a 49-year-old woman, with bipolar disorder and depression, undergoing treatment with lithium, antidepressants and antipsychotics, who was admitted to hospital due to a clinical picture of visual hallucinations with an elevated lithaemia of 2.1 mEq/L (therapeutic range: 0.6-1.2 mEq/L). The patient developed a severe encephalopathy that required the use of assisted ventilation in the intensive care unit. Initial magnetic resonance imaging showed a reversible bilateral symmetrical hyperintensity in the dentate nuclei in T2 and T2-FLAIR sequences. Over the following months she gradually developed a pancerebellar syndrome with evidence of a marked loss of bilateral volume in the cerebellum, above all at the expense of the vermis, which was accompanied by a permanent and disabling cerebellar syndrome. CONCLUSIONS: Although treatment with lithium can cause a variety of neurological side effects, they are usually reversible. However, they occasionally give rise to permanent and disabling sequelae, as in the case of the patient reported here, with a marked and progressive cerebellar atrophy, accompanied by permanent sequelae in the form of a disabling cerebellar syndrome. The cerebellar neurotoxicity of lithium must be taken into account in the broad differential diagnosis of cerebellar ataxia in adults.

TITLE: Alteraciones reversibles en los nucleos dentados y atrofia cerebral de rapida instauracion debido a neurotoxicidad por litio.Introduccion. El tratamiento con litio puede ocasionar diversos efectos adversos neurologicos, incluso con niveles terapeuticos. Caso clinico. Mujer de 49 años, con trastorno bipolar y depresion, en tratamiento con litio, antidepresivos y antipsicoticos, que ingreso por un cuadro de alucinaciones visuales con una litemia elevada de 2,1 mEq/L (rango terapeutico: 0,6-1,2 mEq/L). Progreso a una encefalopatia grave que requirio asistencia respiratoria en la unidad de cuidados intensivos. La resonancia magnetica cerebral inicial mostro una hiperintensidad simetrica bilateral reversible en los nucleos dentados en las secuencias T2 y T2-FLAIR. A lo largo de los meses posteriores desarrollo de forma progresiva un sindrome pancerebeloso con evidencia de una marcada perdida de volumen bilateral en el cerebelo, sobre todo a expensas del vermis, que se acompaño clinicamente de un sindrome cerebeloso permanente e invalidante. Conclusiones. Aunque el tratamiento con litio ocasiona efectos adversos neurologicos variados, estos suelen ser reversibles. Puede dar lugar a secuelas permanentes e incapacitantes, como la paciente descrita, con una atrofia cerebelosa marcada y progresiva, acompañada de secuelas permanentes en forma de sindrome cerebeloso invalidante. La neurotoxicidad cerebelosa del litio debe considerarse en el amplio diagnostico diferencial que representa la ataxia cerebelosa del adulto.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.

[Spinal cord hemorrhage complicating diagnostic lumbar puncture]. / Complicación espinal hemorrágica secundaria a una punción lumbar diagnóstica.

INTRODUCTION: Spinal cord hematoma is a serious and feared complication of lumbar puncture. We here describe two patients who developed a spinal cord hematoma following diagnostic lumbar punctures. CASE REPORTS: CASE 1: a 22-year-old male with a syndrome of cerebrospinal fluid hypotension, with normal coagulation parameters, underwent a traumatic, diagnostic lumbar puncture followed, a few hours later, by back pain irradiated to the legs. MRI showed the presence of a subdural hematoma from the lower dorsal region to the sacral region. A conservative approach, without surgery, was decided and he showed a complete recovery. CASE 2: a 69-year-old woman underwent a diagnostic lumbar puncture for the study of recent-onset headache with tinnitus and unstable gait. Puncture was traumatic and cerebrospinal fluid was normal. A few hours later, she complained of back pain and sciatica, and examination revealed a bilateral Lassegue sign. She required urinary catheterization. MRI showed an epidural hematoma from the T10 vertebra to the sacral area. Her outcome with a conservative approach was also excellent. CONCLUSIONS: Spinal cord hematomas can occur after a traumatic lumbar puncture in people without coagulation disorders or any other predisposing factor. Although surgery has been traditionally advocated in these cases, a conservative approach is an option when symptoms are mild and a close follow-up is possible.