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1.
J Stroke Cerebrovasc Dis ; 30(9): 105651, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33581988

RESUMEN

Chronic kidney disease and seizures often co-exist. When seizures are provoked in patients with kidney disease, their treatment poses a particular challenge. Seizures may be provoked in the context of uremia, and toxic substances associated with uremic encephalopathy. In that case, the mainstay of therapy is to treat the uremia before consideration for anticonvulsant therapy. Treatment of seizures in the setting of chronic kidney disease requires special attention to selection of anticonvulsant medications and knowledge of the altered pharmacokinetics of these medications, which may require special titration schedule in that setting. The purpose of this review is to summarize the current knowledge about inter-relation of seizures and kidney disease. The review will also help practitioners who treat patients with renal failure and coexisting seizures in choosing the best treatment options.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Ondas Encefálicas/efectos de los fármacos , Encéfalo/efectos de los fármacos , Epilepsia/tratamiento farmacológico , Enfermedades Renales/terapia , Diálisis Renal , Uremia/terapia , Anticonvulsivantes/efectos adversos , Anticonvulsivantes/farmacocinética , Encéfalo/fisiopatología , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/etiología , Epilepsia/fisiopatología , Humanos , Enfermedades Renales/complicaciones , Enfermedades Renales/diagnóstico , Enfermedades Renales/fisiopatología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Diálisis Renal/efectos adversos , Factores de Riesgo , Resultado del Tratamiento , Uremia/complicaciones , Uremia/diagnóstico , Uremia/fisiopatología
2.
Continuum (Minneap Minn) ; 25(2): 408-430, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30921016

RESUMEN

PURPOSE OF REVIEW: This article provides the latest information to guide practitioners in counseling and treating women with epilepsy. RECENT FINDINGS: There is an increasing body of literature on the multidirectional effects of sex hormones on seizure frequency and severity and of seizures altering areas of the brain involved in neuroendocrine function. Ongoing pregnancy outcome data from pregnancy registries and meta-analysis of observational studies have provided key information on the safety of using antiseizure medications during pregnancy and the risk to the fetus. SUMMARY: In treating and counseling women with epilepsy from puberty to menopause, it is important to understand the complex interactions of sex hormones, seizures, and antiseizure medications on reproductive health and pregnancy outcomes.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Anticonvulsivantes/efectos adversos , Consejo , Femenino , Feto/efectos de los fármacos , Humanos , Menstruación , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Salud Reproductiva , Convulsiones/tratamiento farmacológico
3.
Neurosurg Focus ; 44(5): E9, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29712523

RESUMEN

OBJECTIVE Surgical treatment of patients with medically refractory focal epilepsy is underutilized. Patients may lack access to surgically proficient centers. The University of California, Irvine (UCI) entered strategic partnerships with 2 epilepsy centers with limited surgical capabilities. A formal memorandum of understanding (MOU) was created to provide epilepsy surgery to patients from these centers. METHODS The authors analyzed UCI surgical and financial data associated with patients undergoing epilepsy surgery between September 2012 and June 2016, before and after institution of the MOU. Variables collected included the length of stay, patient age, seizure semiology, use of invasive monitoring, and site of surgery as well as the monthly number of single-surgery cases, complex cases (i.e., staged surgeries), and overall number of surgery cases. RESULTS Over the 46 months of the study, a total of 104 patients underwent a total of 200 operations; 71 operations were performed in 39 patients during the pre-MOU period (28 months) and 129 operations were performed in 200 patients during the post-MOU period (18 months). There was a significant difference in the use of invasive monitoring, the site of surgery, the final therapy, and the type of insurance. The number of single-surgery cases, complex-surgery cases, and the overall number of cases increased significantly. CONCLUSIONS Partnerships with outside epilepsy centers are a means to increase access to surgical care. These partnerships are likely reproducible, can be mutually beneficial to all centers involved, and ultimately improve patient access to care.


Asunto(s)
Centros Médicos Académicos/tendencias , Epilepsia Refractaria/cirugía , Accesibilidad a los Servicios de Salud/tendencias , Hospitales de Alto Volumen/tendencias , Procedimientos Neuroquirúrgicos/tendencias , Asociación entre el Sector Público-Privado/tendencias , Centros Médicos Académicos/economía , Adulto , Epilepsia Refractaria/economía , Femenino , Accesibilidad a los Servicios de Salud/economía , Humanos , Masculino , Procedimientos Neuroquirúrgicos/economía , Asociación entre el Sector Público-Privado/economía
4.
Epilepsy Behav Case Rep ; 9: 42-45, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29692970

RESUMEN

Epilepsy surgery is indicated in select patients with drug-resistant focal epilepsy. Seizure freedom or significant reduction of seizure burden without risking new neurological deficits is the expected goal of epilepsy surgery. Typically, when the seizure onset zone overlaps with eloquent cortex, patients are excluded from surgery. We present a patient with drug-resistant frontal lobe epilepsy who underwent successful surgery with resection of Broca's area, primarily involving the pars triangularis (BA 45). We report transient expressive aphasia followed by recovery of speech. This case provides new insights into adult neuroplasticity of the language network.

5.
Oper Neurosurg (Hagerstown) ; 14(3): 267-272, 2018 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-29462446

RESUMEN

BACKGROUND: Responsive neurostimulation (RNS) is a relatively new treatment option that has been shown to be effective for patients with medically refractory focal epilepsy when resection is not possible, especially in bilateral mesial temporal onset. Robotic devices are becoming increasingly popular for use in stereotactic procedures such as stereoelectroencephalography, but have yet to be used when implanting RNS devices. OBJECTIVE: To show that these 2 forms of advanced technology were compatible and could be used effectively in patient care. METHODS: We implanted RNS devices in 3 patients with bilateral mesial temporal lobe epilepsy. Each patient was placed in the prone position, and electrode trajectories were planned via the robotic navigation system via a transoccipital approach. One lead was placed along each amygdalohippocampal complex. A small craniectomy was then created in the parietal region for RNS generator implantation. Actual and expected target locations and distance were calculated for each depth. There were no complications in this group. RESULTS: RNS devices with bilateral leads were successfully implanted in all 3 patients, with bilateral mesial temporal lobe onset. Follow-up ranged from 3 to 6 mo, and there were no complications in this group. The median distance between the estimate and actual targets was 2.18 (range = 1.11-3.27) mm. CONCLUSION: We show that implanting RNS devices with robotic assistance is feasible with excellent precision and accuracy. The advantages of using robotic assistance include higher flexibility, accuracy, precision, and consistency.


Asunto(s)
Estimulación Encefálica Profunda , Epilepsia Refractaria/cirugía , Electrodos Implantados , Epilepsia del Lóbulo Temporal/cirugía , Procedimientos Quirúrgicos Robotizados/métodos , Adulto , Humanos , Procedimientos Quirúrgicos Robotizados/efectos adversos , Lóbulo Temporal/cirugía , Resultado del Tratamiento , Adulto Joven
6.
Epilepsia ; 58(6): 1023-1026, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28426130

RESUMEN

OBJECTIVE: Lowering the length of stay (LOS) is thought to potentially decrease hospital costs and is a metric commonly used to manage capacity. Patients with epilepsy undergoing intracranial electrode monitoring may have longer LOS because the time to seizure is difficult to predict or control. This study investigates the effect of economic implications of increased LOS in patients undergoing invasive electrode monitoring for epilepsy. METHODS: We retrospectively collected and analyzed patient data for 76 patients who underwent invasive monitoring with either subdural grid (SDG) implantation or stereoelectroencephalography (SEEG) over 2 years at our institution. Data points collected included invasive electrode type, LOS, profit margin, contribution margins, insurance type, and complication rates. RESULTS: LOS correlated positively with both profit and contribution margins, meaning that as LOS increased, both the profit and contribution margins rose, and there was a low rate of complications in this patient group. This relationship was seen across a variety of insurance providers. SIGNIFICANCE: These data suggest that LOS may not be the best metric to assess invasive monitoring patients (i.e., SEEG or SDG), and increased LOS does not necessarily equate with lower or negative institutional financial gain. Further research into LOS should focus on specific specialties, as each may differ in terms of financial implications.


Asunto(s)
Análisis Costo-Beneficio , Electrodos Implantados/economía , Electroencefalografía/economía , Hospitales Universitarios/economía , Tiempo de Internación/economía , Monitoreo Fisiológico/economía , Procesamiento de Señales Asistido por Computador , Técnicas Estereotáxicas/economía , California , Humanos , Estudios Retrospectivos , Estadística como Asunto
7.
J Neural Eng ; 13(2): 026016, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26859341

RESUMEN

OBJECTIVE: Electrocorticography (ECoG)-based brain-computer interface (BCI) is a promising platform for controlling arm prostheses. To restore functional independence, a BCI must be able to control arm prostheses along at least six degrees-of-freedoms (DOFs). Prior studies suggest that standard ECoG grids may be insufficient to decode multi-DOF arm movements. This study compared the ability of standard and high-density (HD) ECoG grids to decode the presence/absence of six elementary arm movements and the type of movement performed. APPROACH: Three subjects implanted with standard grids (4 mm diameter, 10 mm spacing) and three with HD grids (2 mm diameter, 4 mm spacing) had ECoG signals recorded while performing the following movements: (1) pincer grasp/release, (2) wrist flexion/extension, (3) pronation/supination, (4) elbow flexion/extension, (5) shoulder internal/external rotation, and (6) shoulder forward flexion/extension. Data from the primary motor cortex were used to train a state decoder to detect the presence/absence of movement, and a six-class decoder to distinguish between these movements. MAIN RESULTS: The average performances of the state decoders trained on HD ECoG data were superior (p = 3.05 × 10(-5)) to those of their standard grid counterparts across all combinations of the µ, ß, low-γ, and high-γ frequency bands. The average best decoding error for HD grids was 2.6%, compared to 8.5% of standard grids (chance 50%). The movement decoders trained on HD ECoG data were superior (p = 3.05 × 10(-5)) to those based on standard ECoG across all band combinations. The average best decoding errors of 11.9% and 33.1% were obtained for HD and standard grids, respectively (chance error 83.3%). These improvements can be attributed to higher electrode density and signal quality of HD grids. SIGNIFICANCE: Commonly used ECoG grids are inadequate for multi-DOF BCI arm prostheses. The performance gains by HD grids may eventually lead to independence-restoring BCI arm prosthesis.


Asunto(s)
Electrocorticografía/métodos , Electrocorticografía/normas , Electrodos Implantados/normas , Corteza Motora/fisiología , Adulto , Electrocorticografía/instrumentación , Femenino , Humanos , Masculino , Adulto Joven
8.
Neuroimage ; 101: 695-703, 2014 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-25094020

RESUMEN

Brain machine interfaces (BMIs) have the potential to provide intuitive control of neuroprostheses to restore grasp to patients with paralyzed or amputated upper limbs. For these neuroprostheses to function, the ability to accurately control grasp force is critical. Grasp force can be decoded from neuronal spikes in monkeys, and hand kinematics can be decoded using electrocorticogram (ECoG) signals recorded from the surface of the human motor cortex. We hypothesized that kinetic information about grasping could also be extracted from ECoG, and sought to decode continuously-graded grasp force. In this study, we decoded isometric pinch force with high accuracy from ECoG in 10 human subjects. The predicted signals explained from 22% to 88% (60 ± 6%, mean ± SE) of the variance in the actual force generated. We also decoded muscle activity in the finger flexors, with similar accuracy to force decoding. We found that high gamma band and time domain features of the ECoG signal were most informative about kinetics, similar to our previous findings with intracortical LFPs. In addition, we found that peak cortical representations of force applied by the index and little fingers were separated by only about 4mm. Thus, ECoG can be used to decode not only kinematics, but also kinetics of movement. This is an important step toward restoring intuitively-controlled grasp to impaired patients.


Asunto(s)
Mapeo Encefálico/métodos , Electroencefalografía/métodos , Contracción Isométrica/fisiología , Corteza Motora/fisiología , Músculo Esquelético/fisiología , Adulto , Electrodos Implantados , Electromiografía , Femenino , Ritmo Gamma/fisiología , Mano/fisiología , Humanos , Cinética , Masculino , Persona de Mediana Edad , Adulto Joven
9.
BMC Neurol ; 14: 131, 2014 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-24938118

RESUMEN

BACKGROUND: Temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) patients have each been associated with extensive brain atrophy findings, yet to date there are no reports of head to head comparison of both patient groups. Our aim was to assess and compare between tissue-specific and structural brain atrophy findings in TLE to IGE patients and to healthy controls (HC). METHODS: TLE patients were classified in TLE lesional (L-TLE) or non-lesional (NL-TLE) based on presence or absence of MRI temporal structural abnormalities. High resolution 3 T MRI with automated segmentation by SIENAX and FIRST tools were performed in a group of patients with temporal lobe epilepsy (11 L-TLE and 15 NL-TLE) and in15 IGE as well as in 26 HC. Normal brain volume (NBV), normal grey matter volume (NGMV), normal white matter volume (NWMV), and volumes of subcortical deep grey matter structures were quantified. Using regression analyses, differences between the groups in both volume and left/right asymmetry were evaluated. Additionally, laterality of results was also evaluated to separately quantify ipsilateral and contralateral effects in the TLE group. RESULTS: All epilepsy groups had significantly lower NBV and NWMV compared to HC (p < 0.001). L-TLE had lower hippocampal volume than HC and IGE (p = 0.001), and all epilepsy groups had significantly lower amygdala volume than HC (p < = 0.004). In L-TLE, there was evidence of atrophy in both ipsilateral and contralateral structures. CONCLUSIONS: Our study revealed that TLE and IGE patients demonstrated similar overall tissue-specific brain atrophy, although specific structures differences were appreciated. L-TLE also appeared to behave differently than NL-TLE, with atrophy not limited to the ipsilateral side.


Asunto(s)
Encéfalo/patología , Epilepsia Generalizada/diagnóstico , Epilepsia del Lóbulo Temporal/diagnóstico , Procesamiento de Imagen Asistido por Computador/métodos , Imagen por Resonancia Magnética/métodos , Adolescente , Adulto , Anciano , Envejecimiento/patología , Anatomía Transversal , Atrofia/patología , Electroencefalografía , Epilepsia Generalizada/patología , Epilepsia del Lóbulo Temporal/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
10.
Artículo en Inglés | MEDLINE | ID: mdl-24111011

RESUMEN

Electrocorticogram (ECoG)-based brain computer interfaces (BCI) can potentially be used for control of arm prostheses. Restoring independent function to BCI users with such a system will likely require control of many degrees-of-freedom (DOF). However, our ability to decode many-DOF arm movements from ECoG signals has not been thoroughly tested. To this end, we conducted a comprehensive study of the ECoG signals underlying 6 elementary upper extremity movements. Two subjects undergoing ECoG electrode grid implantation for epilepsy surgery evaluation participated in the study. For each task, their data were analyzed to design a decoding model to classify ECoG as idling or movement. The decoding models were found to be highly sensitive in detecting movement, but not specific in distinguishing between different movement types. Since sensitivity and specificity must be traded-off, these results imply that conventional ECoG grids may not provide sufficient resolution for decoding many-DOF upper extremity movements.


Asunto(s)
Electroencefalografía , Movimiento , Procesamiento de Señales Asistido por Computador , Extremidad Superior/fisiología , Adulto , Miembros Artificiales , Interfaces Cerebro-Computador , Femenino , Humanos , Adulto Joven
11.
Seizure ; 21(9): 717-21, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22902291

RESUMEN

UNLABELLED: Obstructive sleep apnea (OSA) commonly coexists with epilepsy, and treatment of OSA may decrease seizure frequency. However, it is unclear whether patients with medically refractory epilepsy have a higher incidence of OSA compared with well-controlled epilepsy patients and whether the two groups carry different risk factors. PURPOSE: This study aimed to investigate the presence of OSA in patients with refractory vs. well-controlled epilepsy and their associated risk factors. We also assessed the benefits of treatment of OSA with continuous positive airway pressure (CPAP) in refractory epilepsy patients. METHODS: We retrospectively reviewed data from patients who presented to the Jacobs Neurological Institute Comprehensive Epilepsy Center of University at Buffalo from 2007 to 2010. RESULTS: There is a tendency for much higher incidence of OSA in our epilepsy population compared with the general population (15.2% vs. 4.41%). For patients with well-controlled epilepsy, older age, male gender, and higher seizure frequency were predictors of a diagnosis of OSA. However, in medically refractory epilepsy patients, diabetes and snoring predicted a diagnosis of OSA. Treatment of OSA with CPAP in refractory epilepsy patients improved their seizure control (p<0.02). CONCLUSION: This study confirms that OSA is common in epilepsy patients and treatment of OSA can improve seizure control in medically refractory cases. Patients with refractory epilepsy who have diabetes are more likely to have OSA.


Asunto(s)
Presión de las Vías Aéreas Positiva Contínua , Epilepsia/epidemiología , Epilepsia/terapia , Apnea Obstructiva del Sueño/epidemiología , Apnea Obstructiva del Sueño/terapia , Adulto , Anciano , Presión de las Vías Aéreas Positiva Contínua/métodos , Epilepsia/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Apnea Obstructiva del Sueño/fisiopatología , Resultado del Tratamiento
12.
J Neurosurg ; 116(2): 385-9, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22098196

RESUMEN

Intraoperative neuromonitoring utilizing electroencephalography (EEG) is rarely performed during neuroendoscopy. The authors present a case in which this monitoring modality was used for a patient with a colloid cyst in preparation for an open craniotomy should an endoscopic approach fail. In this case, EEG serendipitously captured near-complete cessation of electrocerebral activity that occurred during intraventricular irrigation in response to ventricular collapse and resulted in no postoperative deficits. To the authors' knowledge, this is the first reported case of severe suppression of electrical activity captured by EEG during neuroendoscopy. Although they describe a transient phenomenon that resulted in no residual cognitive or neurological deficits, the importance of cautious introduction of ventricular irrigation, the need to carefully monitor intracranial pressure during neuroendoscopic procedures, and the need to pay close attention to irrigation temperature and composition should not be underestimated. Additional studies regarding the utility of EEG in alerting neurosurgeons to adverse electrical cerebral activity during neuroendoscopy are warranted.


Asunto(s)
Quiste Coloide/cirugía , Electroencefalografía , Complicaciones Intraoperatorias/diagnóstico , Monitoreo Intraoperatorio/métodos , Neuroendoscopía/efectos adversos , Tercer Ventrículo/cirugía , Quiste Coloide/patología , Femenino , Humanos , Persona de Mediana Edad , Irrigación Terapéutica/efectos adversos , Tercer Ventrículo/patología
13.
Pediatr Neurol ; 33(4): 227-34, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16194719

RESUMEN

Antiepileptic drugs may paradoxically worsen seizure frequency or induce new seizure types in some patients with epilepsy. The mechanisms of seizure aggravation by antiepileptic drugs are mostly unknown and may be related to specific pharmacodynamic properties of these drugs. This article provides a review of the various clinical circumstances of seizure exacerbation and aggravation of epilepsy by antiepileptic drugs as well as a discussion of possible mechanisms underlying the occasional paradoxical effect of these drugs. Antiepileptic drug-induced seizure aggravation can occur virtually with all antiepileptic medications. Drugs that aggravate seizures are more likely to have only one or two mechanisms of action, either enhanced gamma-aminobutyric acid-mediated transmission or blockade of voltage-gated sodium channels. Antiepileptic drug-induced seizure exacerbation should be considered and the accuracy of diagnosis of the seizure type should be questioned whenever there is seizure worsening or the appearance of new seizure types after the introduction of any antiepileptic medication.


Asunto(s)
Anticonvulsivantes/efectos adversos , Epilepsia/inducido químicamente , Epilepsia/tratamiento farmacológico , Niño , Humanos
14.
Pediatr Neurol ; 28(5): 396-9, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12878304

RESUMEN

The case of a 9-year-old girl with acute encephalopathy with evidence of influenza B virus infection and bilateral basal ganglia lesions is reported. The literature on acute necrotizing encephalopathy is reviewed, and other causes of bilateral basal ganglia lesions are discussed.


Asunto(s)
Virus de la Influenza B , Gripe Humana/complicaciones , Enfermedad de Leigh/diagnóstico , Enfermedad de Leigh/etiología , Niño , Femenino , Humanos
15.
Epileptic Disord ; 5(2): 93-100, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12875952

RESUMEN

BACKGROUND: Panic attack semiology as a manifestation of epileptic seizures may lead to difficulties and delay in diagnosis. We present a case series to demonstrate the association of ictal panic and anxiety symptoms with partial seizures lateralized to the right temporal lobe. METHODS: From 112 consecutive patients with intractable temporal lobe epilepsy (59 right, 53 left) referred for video-EEG monitoring, five patients were identified whose seizures had been diagnosed as panic attacks in the past. Their ictal symptomatology included feelings of panic and impending doom, hyper-ventilation, palpitation, diaphoresis, shortness of breath and generalized paresthesiae. Ictal panic was not identified in 72 patients with extra temporal epilepsy investigated during the same period. RESULTS: EEG documented a right anterior to mid-temporal focus in all five patients. Brain MRI or pathology showed right mesial temporal sclerosis in four and a right temporal ganglioglioma in one. Ictal tachycardia was documented with EEG-EKG recording in the latter patient, prior to right anterior temporal lobectomy and amygdalohippocampectomy. Reinvestigation of this patient five years later for recurrent seizures, no longer associated with panic symptomatology, showed right temporal ictal onsets with seizure spread to the left temporal lobe, now associated with ictal bradycardia. CONCLUSIONS: Our case series provides further evidence to support a relationship between panic attack symptomatology and ictal involvement of the right mesial temporal region [Published with video sequences].


Asunto(s)
Dominancia Cerebral/fisiología , Epilepsia del Lóbulo Temporal/fisiopatología , Trastorno de Pánico/fisiopatología , Adulto , Amígdala del Cerebelo/patología , Amígdala del Cerebelo/fisiopatología , Amígdala del Cerebelo/cirugía , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/fisiopatología , Neoplasias Encefálicas/cirugía , Diagnóstico Diferencial , Electrocardiografía , Electroencefalografía , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Hipocampo/patología , Hipocampo/fisiopatología , Hipocampo/cirugía , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico , Trastorno de Pánico/diagnóstico , Trastorno de Pánico/cirugía , Embarazo , Psicocirugía , Recurrencia , Reoperación , Esclerosis , Lóbulo Temporal/patología , Lóbulo Temporal/fisiopatología , Lóbulo Temporal/cirugía
16.
Pediatr Neurol ; 26(4): 324-8, 2002 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11992766

RESUMEN

We describe two brothers with bilateral exudative retinopathy, intracranial calcifications, a sclerotic bony disorder, and normal intelligence. The younger brother also has osteopenia, mild splenomegaly, and pancytopenia. We review the literature with emphasis on the unique features of these patients.


Asunto(s)
Enfermedades Óseas Metabólicas/diagnóstico , Encefalopatías/diagnóstico , Calcinosis/diagnóstico , Retina/patología , Adolescente , Enfermedades Óseas Metabólicas/genética , Encefalopatías/genética , Calcinosis/genética , Diagnóstico Diferencial , Humanos , Masculino , Síndrome
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