RESUMEN
OBJECTIVE: Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between the occurrence of gastrointestinal and eating problems and core features of DS. METHODS: Gastrointestinal and eating problems were assessed with a questionnaire in a Dutch cohort of participants with an SCN1A-related seizure disorder. Associations between the number of gastrointestinal and eating problems and core features of DS, seizure severity, level of intellectual disability, impaired mobility, behavioral problems, and use of anti-seizure medication, were explored by multivariate ordinal regression analyses. Symptoms were divided into the categories dysphagia-related, behavioral, and gastrointestinal, and were assessed separately. RESULTS: One hundred sixty-nine participants with an SCN1A-related seizure disorder, of whom 118 (69.8%) with DS and 51 (30.2%) with Generalized Epilepsy with Febrile Seizures Plus / Febrile Seizures (GEFS+/FS), the non-DS phenotype, were evaluated. Gastrointestinal and eating problems were highly prevalent in DS participants, 50.8% had more than three symptoms compared to 3.9% of non-DS participants. Of participants with DS, 17.8% were fully or partly fed by a gastric tube. Within the three different symptom categories, the most prevalent dysphagia-related symptom was drooling (60.7%), distraction during mealtimes (61.4%) the most prevalent behavioral symptom, and constipation and loss of appetite (both 50.4%) the most prevalent gastrointestinal symptoms. DS participants who use a wheelchair (odds ratio (OR) 4.9 95%CI (1.9-12.8) compared to walking without aid), who use ≥3 anti-seizure medications (ASM) (OR 5.9 95%CI (1.9-18.2) compared to <3 ASM) and who have behavioral problems (OR 3.0 95%CI (1.1-8.1) compared to no behavioral problems) had more gastrointestinal and eating problems. CONCLUSION: Gastrointestinal and eating problems are frequently reported symptoms in DS. Distinguishing between symptom categories will lead to tailored management of patients at risk, will improve early detection, and enable a timely referral to a dietitian, behavioral expert, and/or speech therapist, ultimately aiming to improve the quality of life of both patients and caregivers.
Asunto(s)
Trastornos de Deglución , Epilepsias Mioclónicas , Epilepsia , Humanos , Canal de Sodio Activado por Voltaje NAV1.1/genética , Calidad de Vida , Trastornos de Deglución/epidemiología , Trastornos de Deglución/etiología , Mutación , Epilepsia/complicaciones , Epilepsia/epidemiología , Epilepsia/diagnóstico , Epilepsias Mioclónicas/diagnósticoRESUMEN
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy. Custom-targeted next generation sequencing gene panels for epilepsy genes were used. Clinical data were collected from medical records. All patients were mosaic in blood for likely pathogenic variants in the PCDH19 gene. In most, clinical features were very similar to the female phenotype, with normal development before seizure onset, which occurred between 5 and 10 months of age, clustering of seizures and sensitivity to fever. Four out of five patients had mild to severe ID and behavioural problems. We reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder (ages 10-14 years).
Asunto(s)
Cadherinas/genética , Epilepsia/genética , Predisposición Genética a la Enfermedad , Discapacidad Intelectual/genética , Mutación/genética , Femenino , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Protocadherinas , Convulsiones/complicaciones , Factores SexualesRESUMEN
Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of families with ADLTE. Attention-deficit/hyperactivity disorder (ADHD) symptoms have not yet been reported in these families. Clinical data were collected from a family with five affected members. Leucine-rich glioma-inactivated 1 exons and boundaries were sequenced by standard methods. Attention-deficit/hyperactivity disorder symptoms were scored based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Affected members had seizures with auditory features and psychic auras, and some experienced nightmares. A heterozygous c.431+1G>A substitution in LGI1 was detected in all members. Significantly more hyperactivity symptoms were found in family members carrying the LGI1 mutation. This study expands the phenotypic spectrum associated with ADLTE due to LGI1 mutation and underlines the need for more systematic evaluation of ADHD and related symptoms.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/etiología , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/genética , Salud de la Familia , Mutación/genética , Proteínas/genética , Trastorno por Déficit de Atención con Hiperactividad/genética , Niño , Análisis Mutacional de ADN , Femenino , Genes Dominantes , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Fenotipo , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/patología , Serina/deficiencia , Adolescente , Adulto , Errores Innatos del Metabolismo de los Aminoácidos/sangre , Errores Innatos del Metabolismo de los Aminoácidos/líquido cefalorraquídeo , Errores Innatos del Metabolismo de los Aminoácidos/tratamiento farmacológico , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Microcefalia/sangre , Microcefalia/líquido cefalorraquídeo , Microcefalia/tratamiento farmacológico , Fosfoglicerato-Deshidrogenasa/deficiencia , Monoéster Fosfórico Hidrolasas/deficiencia , Trastornos Psicomotores/sangre , Trastornos Psicomotores/líquido cefalorraquídeo , Trastornos Psicomotores/tratamiento farmacológico , Convulsiones/sangre , Convulsiones/líquido cefalorraquídeo , Convulsiones/tratamiento farmacológico , Serina/biosíntesis , Serina/sangre , Serina/líquido cefalorraquídeo , Transaminasas/sangre , Transaminasas/líquido cefalorraquídeo , Transaminasas/deficiencia , Adulto JovenRESUMEN
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.
Asunto(s)
Cadherinas/genética , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Trastornos Generalizados del Desarrollo Infantil/genética , Epilepsia/epidemiología , Epilepsia/genética , Mutación/fisiología , Adolescente , Cadherinas/fisiología , Niño , Trastornos Generalizados del Desarrollo Infantil/complicaciones , Preescolar , Estudios de Cohortes , Epilepsias Mioclónicas/epidemiología , Epilepsias Mioclónicas/genética , Epilepsia/complicaciones , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Masculino , Penetrancia , Protocadherinas , Caracteres Sexuales , SíndromeRESUMEN
Analyses of structural genome variation by array-CGH have dramatically enhanced our ability to detect copy number variations (CNVs). De novo CNVs and those co-segregating with disease in a family are generally interpreted as pathogenic. Yet, often CNVs, such as recurrent microdeletions in region 15q13.3, are not so clearly pathogenic. Here we discuss potential confounding mechanisms that may lead to the phenotypic pleiotropy of CNVs, such as unmasking of recessive alleles by hemizygous deletions, interaction of CNVs with other loci and genes, genetic epistasis, allelic exclusion, and somatic mosaicism. We illustrate some of these mechanisms with a detailed analysis of recent studies of CNVs involving MCPH1, AUTS2, CNTNAP2, and mutations in GRIN2B. Next we discuss the clinical ramifications of these findings and urge workers to avoid 'diagnostic fatalism' (i.e., halting all genetic investigation after the detection of a single CNV) and address some of the future challenges likely to result from implementations of next generation sequencing techniques.
Asunto(s)
Trastorno Autístico/genética , Epilepsia/genética , Esquizofrenia/genética , Trastorno Autístico/diagnóstico , Aberraciones Cromosómicas , Cromosomas Humanos Par 15 , Hibridación Genómica Comparativa , Variaciones en el Número de Copia de ADN , Epilepsia/diagnóstico , Epistasis Genética , Genes Recesivos , Pleiotropía Genética , Estudio de Asociación del Genoma Completo , Genómica , Humanos , Esquizofrenia/diagnósticoRESUMEN
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic phosphoprotein and is involved in early brain neurogenesis and neuronal migration. A rare, recessive form of bilateral PNH with microcephaly and severe delay is associated with mutations of the ADP-ribosylation factor guanine nucleotide-exchange factor-2 (ARFGEF2) gene, required for vesicle and membrane trafficking from the trans-Golgi. However, PH is a heterogeneous disorder. We studied clinical and brain MRI of 182 patients with PH and, based on its anatomic distribution and associated birth defects, identified 15 subtypes. Classical bilateral PNH represented the largest group (98 patients: 54%). The 14 additional phenotypes (84 patients: 46%) included PNH with Ehlers-Danlos syndrome (EDS), temporo-occipital PNH with hippocampal malformation and cerebellar hypoplasia, PNH with fronto-perisylvian or temporo-occipital polymicrogyria, posterior PNH with hydrocephalus, PNH with microcephaly, PNH with frontonasal dysplasia, PNH with limb abnormalities, PNH with fragile-X syndrome, PNH with ambiguous genitalia, micronodular PH, unilateral PNH, laminar ribbon-like and linear PH. We performed mutation analysis of FLNA in 120 patients, of whom 72 (60%) had classical bilateral PNH and 48 (40%) other PH phenotypes, and identified 25 mutations in 40 individuals. Sixteen mutations had not been reported previously. Mutations were found in 35 patients with classical bilateral PNH, in three with PNH with EDS and in two with unilateral PNH. Twenty one mutations were nonsense and frame-shift and four missense. The high prevalence of mutations causing protein truncations confirms that loss of function is the major cause of the disorder. FLNA mutations were found in 100% of familial cases with X-linked PNH (10 families: 8 with classical bilateral PNH, 1 with EDS and 1 with unilateral PH) and in 26% of sporadic patients with classical bilateral PNH. Overall, mutations occurred in 49% of individuals with classical bilateral PNH irrespective of their being familial or sporadic. However, the chances of finding a mutation were exceedingly gender biased with 93% of mutations occurring in females and 7% in males. The probability of finding FLNA mutations in other phenotypes was 4% but was limited to the minor variants of PNH with EDS and unilateral PNH. Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05).
Asunto(s)
Encéfalo/anomalías , Proteínas Contráctiles/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Proteínas de Microfilamentos/genética , Mutación , Anomalías Múltiples/genética , Adolescente , Adulto , Niño , Preescolar , Síndrome de Ehlers-Danlos/genética , Femenino , Filaminas , Síndrome del Cromosoma X Frágil/genética , Genotipo , Humanos , Hidrocefalia/genética , Deformidades Congénitas de las Extremidades/genética , Imagen por Resonancia Magnética/métodos , Masculino , Microcefalia/genética , Persona de Mediana Edad , Linaje , FenotipoRESUMEN
We describe a fetus with a hypoplastic right ventricle detected by prenatal ultrasound examination. A possible causal relationship with prenatal valproate exposure is discussed.
Asunto(s)
Anticonvulsivantes/efectos adversos , Cardiopatías Congénitas/inducido químicamente , Cardiopatías Congénitas/diagnóstico por imagen , Ventrículos Cardíacos/diagnóstico por imagen , Ultrasonografía Prenatal , Ácido Valproico/efectos adversos , Aborto Inducido , Adulto , Diagnóstico Diferencial , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Femenino , Cardiopatías Congénitas/embriología , Ventrículos Cardíacos/embriología , Humanos , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/tratamiento farmacológico , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Segundo Trimestre del EmbarazoRESUMEN
BACKGROUND: In patients with acute life threatening diseases, and in their relatives, the ability to make a balanced decision on participation in a clinical trial may be impaired. OBJECTIVES: To assess what relevant information could be recalled by patients who were living independently after a subarachnoid haemorrhage, and by their relatives; and to determine how these patients and relatives had reacted to the informed consent encounter. METHODS: Twenty months (range 7 to 31) after treatment for subarachnoid haemorrhage, 49 patients and 47 relatives who had participated in one of two randomised trials on medical management were interviewed. The interview consisted of items on: spontaneous recall and knowledge of trial design; understanding of the trial design and the informed consent procedure; the amount and clarity of the information given; and reasons for participating. Finally patients and relatives were asked whether they would participate again in similar circumstances. RESULTS: One third of the patients recalled having participated in a clinical trial. Thirteen per cent of the patients and 20% of the relatives felt that the information supplied had not been sufficient. Nine per cent of the patients and half the relatives had read the written information. None of the patients and one relative thought that participation had been obligatory. Twenty eight per cent of the patients and 94% of the relatives felt in retrospect that they had been capable of making an adequate decision. Virtually all patients and relatives would participate again in similar circumstances. CONCLUSIONS: Many patients and their relatives have little recall of the informed consent procedure and the essentials of acute subarachnoid haemorrhage trials. However, most were satisfied with the overall procedure and would participate again.
Asunto(s)
Toma de Decisiones , Servicios Médicos de Urgencia , Consentimiento Informado , Participación del Paciente , Ensayos Clínicos Controlados Aleatorios como Asunto , Hemorragia Subaracnoidea/terapia , Revelación de la Verdad , Salud de la Familia , Humanos , Servicios de Información , Recuerdo Mental , Relaciones Médico-PacienteRESUMEN
OBJECTIVES: To compare endovascular coiling with neurosurgical clipping of ruptured basilar bifurcation aneurysms. METHODS: Patient and aneurysm characteristics, procedural complications, and clinical and anatomical results were compared retrospectively in 44 coiled patients and 44 patients treated by clipping. The odds ratios for poor outcome (Glasgow outcome scale 1, 2, 3) adjusted for age, clinical condition, and aneurysm size were assessed by logistic regression analysis. RESULTS: In the endovascular group, five patients (11%) had a poor outcome v 13 (30%) in the surgical group; the adjusted odds ratio for poor outcome after coiling v clipping was 0.28 (95% confidence interval, 0.08 to 0.99). Procedural complications were more common in the surgical group. Optimal or suboptimal occlusion of the aneurysm immediately after coiling was achieved in 41 patients (93%). Clipping was successful in 40 patients (91%). CONCLUSIONS: The results suggest that embolisation with coils is the preferred treatment for patients with ruptured basilar bifurcation aneurysms.
Asunto(s)
Aneurisma Roto/cirugía , Arteria Basilar/cirugía , Aneurisma Intracraneal/cirugía , Procedimientos Neuroquirúrgicos/instrumentación , Aneurisma Roto/complicaciones , Aneurisma Roto/patología , Arteria Basilar/patología , Femenino , Humanos , Aneurisma Intracraneal/complicaciones , Aneurisma Intracraneal/patología , Complicaciones Intraoperatorias/epidemiología , Masculino , Persona de Mediana Edad , Hemorragia Posoperatoria/epidemiología , Estudios RetrospectivosRESUMEN
We describe the clinical presentation, radiological and clinical results in six consecutive patients with a giant vertebrobasilar aneurysm treated by bilateral vertebral artery balloon occlusion. Five patients presented with headache and signs of brain-stem compression and one with subarachnoid haemorrhage. In all patients vertebral artery balloon occlusion was performed. In four, this followed successful test occlusion. In one patient, who did not tolerate the test occlusion, a bypass from the external carotid to the posterior cerebral artery preceded definitive vertebral artery occlusion. One patient underwent bypass surgery prior to test occlusion. At 6-22 months follow-up three patients had a good functional outcome and showed unchanged size or shrinkage of the aneurysm on MRI. Three other patients died; one from recurrent haemorrhage, and two probably from delayed brain-stem ischaemia. The presence of two large posterior communicating arteries predicted good functional outcome, which was also related to the clinical condition at presentation, and the degree of brain-stem compression and oedema on MRI. Bilateral vertebral artery balloon occlusion can be considered in patients with otherwise untreatable giant vertebrobasilar aneurysms. If test occlusion is not tolerated, a surgical bypass to the posterior circulation can be considered.
Asunto(s)
Aneurisma/terapia , Oclusión con Balón , Aneurisma Intracraneal/terapia , Arteria Vertebral , Adulto , Aneurisma/diagnóstico , Aneurisma/diagnóstico por imagen , Femenino , Humanos , Aneurisma Intracraneal/diagnóstico , Aneurisma Intracraneal/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Arteria Vertebral/diagnóstico por imagen , Arteria Vertebral/patologíaRESUMEN
OBJECTIVE: To assess the time course of secondary ischemia and first rebleeding and the relation between the timing of operation and the time course of secondary ischemia in a consecutive series of patients with aneurysmal subarachnoid hemorrhage (SAH). METHODS: Life table methods were used to assess the daily rates of ischemia and of rebleeding on day 0, day 1 to 3, day 4 to 10, day 11 to 14, and day 15 to 21. The authors compared the time course of secondary ischemia between patients operated within 4 days of SAH and those operated after 10 days. RESULTS: Of 346 patients included, 220 were operated, 131 within 4 days and 74 after 10 days. The rebleed rate was highest on the day of the initial hemorrhage, then diminished, and increased slightly again during the second week. The rate of secondary ischemia was highest on day 4, diminished after day 10, but peaked again from day 14 to 18 for patients who were operated later than 10 days after aneurysmal rupture. The peak rate of ischemia was much higher after early than after late operation. Although patients with early operation were in a better clinical condition on admission, with a relatively low risk of secondary ischemia, the overall rate of secondary ischemia was as high as in patients with delayed operation. From day 11 to 21 the rebleed rate was higher than the rate of secondary ischemia. CONCLUSIONS: These results indicate that operation is a risk factor for ischemia, especially when performed early. If operation is postponed, it should be planned soon after day 10, because of the relatively high rebleed rate from day 11 to 21.
Asunto(s)
Isquemia Encefálica/complicaciones , Hemorragia Subaracnoidea/fisiopatología , Hemorragia Subaracnoidea/cirugía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Riesgo , Hemorragia Subaracnoidea/complicaciones , Factores de TiempoRESUMEN
BACKGROUND: Embolization with coils is increasingly used for the treatment of intracranial aneurysms. To assess the percentage of complications, the percentage of aneurysm occlusion, and the short-term outcome, we performed a systematic review of studies on embolization with controlled detachable or pushable coils. SUMMARY OF REVIEW: To find studies on embolization with coils, we performed a MEDLINE search from January 1990 to March 1997, checked all reference lists of the studies found, performed a Science Citation Index search on Guglielmi, and hand searched recent volumes of 25 journals. Two authors independently extracted data by means of a standardized data extraction form from 48 eligible studies totalling 1383 patients. Permanent complications of embolization with controlled detachable coils occurred in 46 of 1256 patients (3.7%; 95% CI, 2.7% to 4.9%); 400 of 744 aneurysms (54%; 95% CI, 50% to 57%) were completely occluded. By means of weighted linear regression, no relation between baseline characteristics and outcome measurements was found. The results in the prespecified subgroups of patients with a ruptured aneurysm, an unruptured aneurysm, or a basilar bifurcation aneurysm were essentially the same as the overall results. CONCLUSIONS: Short-term results indicate that embolization with coils is a reasonably safe treatment for patients with an unruptured aneurysm and for patients with aneurysmal subarachnoid hemorrhage. The effectiveness in terms of complete occlusion of the aneurysm is moderate. Randomized trials are warranted to compare surgical clipping with embolization with coils.
Asunto(s)
Embolización Terapéutica/instrumentación , Aneurisma Intracraneal/terapia , Adolescente , Adulto , Aneurisma Roto/terapia , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Ensayos Clínicos Controlados Aleatorios como Asunto , Estudios Retrospectivos , Rotura Espontánea , Resultado del TratamientoRESUMEN
OBJECTIVES: Although long term outcome of patients with perimesencephalic haemorrhage, a benign subset of subarachnoid haemorrhage, is excellent, some patients report an episode of amnesia for the first hours to days after the ictus. The relation between the occurrence of amnesia and the size of the ventricles on CT, including the temporal horns, were studied in patients with perimesencephalic haemorrhage. METHODS: Twenty seven consecutive patients with perimesencephalic haemorrhage were asked about the occurrence of amnesia. Age adjusted bicaudate indices and third ventricle sizes were calculated. Linear measurements of the temporal horn were taken in three directions: anterior-posterior, medial-lateral, and oblique. Additionally, enlargement of the temporal horns was assessed with the "naked eye". RESULTS: Ten of the 27 patients reported an episode of transient amnesia; in these patients the mean sizes of the temporal horns were larger than in patients without amnesia, ranging from a factor of 1.7 for the medial-lateral measurement to a factor of 2.3 for the anterior-posterior measurement. Most of the patients with amnesia had relative bicaudate indices and relative third ventricle sizes> 1, and all had enlarged temporal horns at "naked eye" assessment. CONCLUSION: About one third of patients with perimesencephalic haemorrhage have an episode of amnesia shortly after the bleed. The occurrence of amnesia is associated with enlargement of the temporal horns, and might be explained by temporary hippocampal dysfunction.
Asunto(s)
Amnesia/etiología , Hipocampo/diagnóstico por imagen , Hipocampo/fisiopatología , Mesencéfalo/diagnóstico por imagen , Hemorragia Subaracnoidea/complicaciones , Anciano , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Hemorragia Subaracnoidea/diagnóstico , Tomografía Computarizada por Rayos XRESUMEN
Quality of life was measured by means of the sickness impact profile (SIP) questionnaire in a prospectively collected, consecutive series of 25 patients with perimesencephalic haemorrhage. A mean of two years and four months (range six months to six years) after the perimesencephalic haemorrhage, quality of life scores of the (former) patients were comparable with those of a random sample from the Dutch population. For physical aspects the patients showed even less dysfunction than controls. It is concluded that a perimesencephalic haemorrhage does not reduce quality of life or capacity to work.