Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome-A unicenter experience.

INTRODUCTION: Clinical manifestations of the hypothalamic hamartoma-epilepsy syndrome (HH-ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. METHODS: Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who attended our tertiary Epilepsy Unit between 2003 and 2018. We report the clinical and electroencephalographic features of a series of adult patients with HH and related epilepsy seen in our center together with the treatments and seizure outcome. RESULTS: We describe a series of eight patients. Five males (62.5%), median age at evaluation was 28.5 years (IQR: 15.5). Clinical manifestations included focal with preserved and impaired awareness emotional seizures (gelastic seizures [GS]) in six patients (75%), focal tonic, atonic with impaired awareness and focal to bilateral tonic-clonic seizures. Mild GS were the only symptom in one patient. Three patients (37.5%) had endocrinological disturbances such as obesity and hypothyroidism. Fifty percent of the patients showed psychiatric comorbidity such as anxiety disorder and aggressiveness, and two patients had psychomotor delay. Seven patients (87.7%) had drug-resistant seizures and three of them were treated with radiosurgery. Out of the treated group, only one (33.3%) became seizure-free 2 years after surgery but developed psychiatric problems. The other two patients had an Engel IV outcome and received a vagal nerve stimulation (VNS) implant. VNS did not lead to changes either in intensity nor in seizure frequency. CONCLUSIONS: Hypothalamic hamartoma-epilepsy syndrome clinical manifestations in adult patients are as variable as at pediatric age. Outcome of therapeutic options such as radiosurgery or VNS may be poorer at this stage.

Paraparesia espástica tropical autóctona en la Comunidad de Madrid. Experiencia en el cribado del virus linfotrópico de células T humanas tipo I / Indigenous tropical spastic paraparesis in Madrid (Spain). Experience on screening of human T-lymphotropic virus

Recientemente hemos documentado un caso de paraparesia espástica tropical por HTLV-I en un paciente de nacionalidad española. Este retrovirus infrecuente en Europa rara vez produce sintomatología, pero cuando lo hace supone un grave problema sanitario. Aquí presentamos dicho caso y discutimos situaciones clínicas que justifiquen su detección. Se analizaron las peticiones de cribado de HTLV que recibimos durante 2014-2015 (n=123). El algoritmo diagnóstico fue: 1) Enzimoinmunoanálisis, 2) Hibridación reversa y 3) PCR de ADN proviral. Los resultados mostraron diversas situaciones de cribado de HTLV, destacando el estudio de paraparesia (22%). Se detectaron 7 casos de infección por HTLV-I: 5 pacientes de zona endémica, un paciente VIH+ y por último el caso de paraparesia mencionado. La vigilancia de HTLV-I en regiones no endémicas supone un reto sanitario al no estar bien establecido su balance coste-beneficio. Este caso apoya la inclusión de HTLV-I dentro del diagnóstico diferencial de paraparesia espástica de evolución insidiosa (AU)

We have recently documented a case of tropical spastic paraparesis by HTLV-I in a Spanish patient. HTLV-I infection is rare in Europe, and hardly ever is accompanied by symptoms, but if it does it could trigger a major health issue. This case is presented here, as well as a discussion on the situations in which HTLV-I detection is justified. An analysis was made of the HTLV diagnostic requests at our centre during 2014-2015 (n=123). The diagnostic algorithm was: 1) Enzyme immunoassay, 2) Reverse hybridization, and 3) Proviral DNA detection by PCR. The results showed several situations of HTLV screening, emphasising those related to paraparesis (22%). Seven cases of HTLV-I infection were found: five in patients from endemic regions, one in an HIV-infected patient, and the case of TSP mentioned above. HTLV-I surveillance in non-endemic regions is a challenging issue, as the cost-benefit ratio is not well-established. This case report emphasises the importance of including HTLV within the differential diagnosis of insidious spastic paraparesis (AU)

Indigenous tropical spastic paraparesis in Madrid (Spain). Experience on screening of human T-lymphotropic virus. / Paraparesia espástica tropical autóctona en la Comunidad de Madrid. Experiencia en el cribado del virus linfotrópico de células T humanas tipo I.

We have recently documented a case of tropical spastic paraparesis by HTLV-I in a Spanish patient. HTLV-I infection is rare in Europe, and hardly ever is accompanied by symptoms, but if it does it could trigger a major health issue. This case is presented here, as well as a discussion on the situations in which HTLV-I detection is justified. An analysis was made of the HTLV diagnostic requests at our centre during 2014-2015 (n=123). The diagnostic algorithm was: 1) Enzyme immunoassay, 2) Reverse hybridization, and 3) Proviral DNA detection by PCR. The results showed several situations of HTLV screening, emphasising those related to paraparesis (22%). Seven cases of HTLV-I infection were found: five in patients from endemic regions, one in an HIV-infected patient, and the case of TSP mentioned above. HTLV-I surveillance in non-endemic regions is a challenging issue, as the cost-benefit ratio is not well-established. This case report emphasises the importance of including HTLV within the differential diagnosis of insidious spastic paraparesis.

Utilización de haloperidol en un paciente con síndrome de encefalomiopatía mitocondrial, acidosis láctica y episodios parecidos a ictus (síndrome MELAS) / Using haloperidol in a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS síndrome)

El síndrome de MELAS (del inglés: mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) es una enfermedad de herencia materna caracterizada por una alteración en la cadena respiratoria mitocondrial. Además de la encefalopatía, la miopatía y los fenómenos que simulan ictus, entre sus síntomas también se encuentran manifestaciones psiquiátricas, sobre todo deterioro cognitivo, trastornos afectivos, psicosis y ansiedad. Debido a la escasa prevalencia de esta enfermedad, existen pocas referencias respecto al tratamiento de sus síntomas psiquiátricos. Muchos de los neurolépticos empleados en la práctica clínica habitual han demostrado toxicidad únicamente in vitro sobre la cadena respiratoria mitocondrial, por lo que su uso se desaconseja en estos pacientes. Presentamos un caso de un varón con diagnóstico de síndrome de MELAS mediante estudio genético que demostró la mutación A3243G de MELAS en el gen MT-TL1 del ADN mitocondrial. El paciente, además de las manifestaciones clásicas de la enfermedad, presentaba agitación psicomotriz, insomnio y alteraciones conductuales agudas con heteroagresividad, que, tras el ensayo de múltiples fármacos, únicamente lograron controlarse mediante la administración intravenosa de haloperidol, sin empeorar las manifestaciones neurológicas de la enfermedad. El presente caso evidencia que el empleo de haloperidol en el tratamiento agudo de las manifestaciones psiquiátricas de las enfermedades mitocondriales puede ser seguro y eficaz (AU)

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited disease characterised by an anomaly in the mitochondrial respiratory chain complex. Apart from encephalopathy, myopathy and stroke-like episodes, these patients can also develop psychiatric symptoms such as dementia, affective disorders, psychosis, and anxiety phenomena. Because of the low prevalence of this syndrome, there are few references about the management of its psychiatric comorbidity. In mitochondrial diseases, neuroleptic agents are not recommended because they have demonstrated in vitro toxicity over the mitochondrial respiratory chain. The case is presented of a patient with a diagnosis of MELAS syndrome confirmed by the detection of a A3243G mutation in the MT-TL1 gene encoding part of the mitochondrial DNA. This patient did not only show the classic manifestations of the disease, but also presented with psychomotor agitation, insomnia and behavioural disturbances with aggressiveness. Several drugs were ineffective, but intravenous haloperidol induced remission without worsening of the neurological manifestations. This case suggests that haloperidol may be safe and effective for the acute control of psychiatric symptoms in mitochondrial syndromes (AU)