Cefalea en paciente con neurofibromatosis tipo I / Headache in patient with neurofibromatosis type 1

Introducción. La neurofibromatosis tipo I (NF-1) es unsíndrome neurocutáneo autosómico dominante resultantede una mutación en el cromosoma 17 (17q11.2). La asociaciónde la NF-1 con la malformación de Arnold-Chiari tipo Iya ha sido descrita. Caso clínico. Mujer de 23 años de edad diagnosticadade NF-1 en base a la presencia de lesiones cutáneas e historiafamiliar compatible. Enviada a consulta de neurologíapor cefalea de más de 1 año de evolución, frontooccipitalbilateral y con irradiación hacia los hombros, opresiva, y quese agravaba con el esfuerzo físico y la maniobra de Valsalva.La exploración física mostró múltiples manchas café con lecheen el tronco y neurofibromas cutáneos en la región cervicodorsal,junto con baja estatura y ligera escoliosis dorsal.Neurológicamente presentaba reflejos osteotendinososaumentados en los miembros inferiores respecto a los superiores,con discreta hipoestesia tactoalgésica en el brazo izquierdo.La resonancia magnética craneocervical mostróuna malformación de Chiari tipo I con una cavidad siringomiélicaasociada cervical, sin otras alteraciones a nivel delsistema nervioso central. Sometida a cirugía de la mencionadamalformación, experimentó mejoría parcial de los síntomas. Conclusión. La asociación de NF-1 y la malformaciónde Chiari tipo I no parece casual. Las alteraciones del desarrolloembrionario secundarias a la NF-1 condicionarían lahipoplasia de la fosa posterior subyacente a la malformaciónde Chiari. Nuestro caso refuerza la propuesta de que lamalformación de Chiari tipo I sea incluida en la lista de malformacionesque caracterizan a la NF-1

Introduction. Neurofibromatosis type 1 (NF-1) is anautosomal dominant neurocutaneous syndrome due to amutation in chromosome 17 (at 17q11.2). The associationof NF-1 with Arnold-Chiari I malformation has beenpreviously described. Case report. A 23 year-old woman diagnosed ofNF-1 based on the presence of cutaneous lesions and afamiliar background consistent with this was referred tothe neurologist due to oppressive frontooccipital bilateralheadache that irradiated to both shoulders. It worsenedon physical effort and Valsalva maneuver and hadmore than one year of evolution. Physical examinationshowed multiple «café au lait» spots in the trunk and cutaneousneurofibromas in the cervico-dorsal region, aswell as short height and mild dorsal scoliosis. Neurologicalexamination showed hyperreflexia in both legs andslight light touch and pinprick hyposthesia in the left arm.The magnetic resonance findings suggested Arn o l d -Chiari I malformation with associated cervical syrinx, withoutany other abnormalities in the central nervous system.She underwent surgery, with partial improvementof the symptoms. Conclusion. The association between NF-1 and Arnold-Chiari I malformation seems to be more than coincidental.The abnormalities of the embrionary developmentsecondary to NF-1 would be responsible for theposterior fossa hypoplasia found in Arnold-Chiari malformation.Our case focuses on the idea that Arnold-Chiari malformation should be included in the list ofabnormalities reported in NF-1

[Headache in patient with neurofibromatosis type 1]. / Cefalea en paciente con neurofibromatosis tipo I.

INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome due to a mutation in chromosome 17 (at 17q11.2). The association of NF-1 with Arnold-Chiari I malformation has been previously described. CASE REPORT: A 23 year-old woman diagnosed of NF-1 based on the presence of cutaneous lesions and a familiar background consistent with this was referred to the neurologist due to oppressive frontooccipital bilateral headache that irradiated to both shoulders. It worsened on physical effort and Valsalva maneuver and had more than one year of evolution. Physical examination showed multiple café au lait spots in the trunk and cutaneous neurofibromas in the cervico-dorsal region, as well as short height and mild dorsal scoliosis. Neurological examination showed hyperreflexia in both legs and slight light touch and pinprick hyposthesia in the left arm. The magnetic resonance findings suggested Arnold - Chiari I malformation with associated cervical syrinx, without any other abnormalities in the central nervous system. She underwent surgery, with partial improvement of the symptoms. CONCLUSION: The association between NF-1 and Arnold- Chiari I malformation seems to be more than coincidental. The abnormalities of the embrionary development secondary to NF-1 would be responsible for the posterior fossa hypoplasia found in Arnold-Chiari malformation. Our case focuses on the idea that Arnold- Chiari malformation should be included in the list of abnormalities reported in NF-1.

[Stroke and intracranial stenosis: clinical profile in a series of 134 patients in Spain]. / Ictus y estenosis intracraneal: perfil clínico de una serie española de 134 pacientes.

INTRODUCTION: Intracranial stenoses (IS) are known to be a manifestation of atherosclerosis and a cause of cerebral ischemia, although very few clinical reports have appeared describing such patients in our milieu. OBJECTIVE: The aim of this study was to describe the vascular risk factors, clinical presentation, radiological characteristics, aetiological role played in strokes and the vessels affected in a series of Spanish patients suffering from stroke and IS. PATIENTS AND METHODS: We conducted a retrospective descriptive study of patients admitted to the Cerebrovascular Pathology Unit with strokes and IS between 1990 and 2001. Data collected included: age, sex, arterial hypertension (AHT), diabetes (Db), hypercholesterolemia (HC), smoking (Sm), ischemic or emboligenic heart disease, intermittent claudication, carotid atheromatosis, clinical presentation of stroke and earlier lesions in computerised axial tomography (CAT) scans of the brain. RESULTS: 132 patients; 187 stenotic vessels: 65.7% males, mean age 68.3 years. AHT 65%, Db 39%, HC 40%, Sm 43%, ischemic heart disease 22%, emboligenic heart disease 17%, intermittent claudication 13%. CLINICAL PRESENTATION: TIA 16%, LACI 33%; PACI 25%, TACI 4%, POCI 19%. Significant carotid atheromatosis 26.5%. Symptomatic IS 50%: mean age 63.3 years, 64% females. Arteries affected: vertebral (VA) 28%; middle cerebral (MCA) 27%; carotid siphon 21%; basilar (BA) 10% (65% symptomatic); anterior cerebral (ACA) 5% and posterior cerebral (CPA) 4%. Normal cranial CAT scan 24%, lacunar infarcts 42%, territorial 32%; leukoaraiosis 17%. CONCLUSIONS: Patients with stroke and IS display different clinical profiles according to their sex (males: a higher number of vascular risk factors and clinical involvement of other territories; females are more symptomatic, AHT and HC); they usually present clinically as lacunar syndromes, with a scarce amount of significant atheromatous carotid involvement, except IS of the VA, and IS of the BA are the most symptomatic.

Ictus y estenosis intracraneal: perfil clínico de una serie española de 134 pacientes / Stroke and intracranial stenosis: clinical profile in a series of 134 patients in Spain

Introducción. Las estenosis intracraneales (EI) se conocen como manifestación de ateroesclerosis y causa de isquemia cerebral, pero hay escasas descripciones clínicas de pacientes en nuestro entorno. Objetivo. Describir los factores de riesgo vascular, la presentación clínica, las características radiológicas, el papel etiológico en el ictus los y vasos afectados en una serie de pacientes españoles con ictus y EI. Pacientes y métodos. Estudio descriptivo retrospectivo de pacientes ingresados en la Unidad de Patología Cerebrovascular con ictus y EI entre 1990 y 2001. Recogimos: edad, sexo, hipertensión arterial (HTA), diabetes (Db), hipercolesterolemia (HC), tabaquismo (Tb), cardiopatía isquémica o embolígena, claudicación intermitente, ateromatosis carotídea, presentación clínica del ictus y lesiones previas en TAC craneal. Resultados. Se estudiaron 132 pacientes, con 187 vasos estenóticos; el 65,7 por ciento fue hombre, y la edad media, 68,3 años. Se halló HTA en el 65 por ciento, Db en el 39 por ciento, HC en el 40 por ciento, Tb en el 43 por ciento, cardiopatía isquémica en el 22 por ciento, embolígena en el 17 por ciento, y claudicación intermitente en el 13 por ciento. Presentación clínica: AIT, 16 por ciento; LACI, 33 por ciento; PACI, 25 por ciento; TACI, 4 por ciento; POCI, 19 por ciento. Tenían ateromatosis carotídea significativa el 26,5 por ciento y EI sintomáticas el 50 por ciento: edad media, 63,3 años; 64 por ciento de mujeres. Las arterias afectadas fueron: vertebrales, 28 por ciento; cerebral media, 27 por ciento; sifón, 21 por ciento; basilar (BA) 10 por ciento (65 por ciento sintomáticas); cerebral anterior (ACA) 5 por ciento y cerebral posterior, 4 por ciento. El TAC craneal resultó normal en el 24 por ciento, con infartos lacunares en el 42 por ciento, territoriales en el 32 por ciento, y leucoaraiosis en el 17 por ciento. Conclusiones. Los pacientes con ictus y EI difieren en el perfil clínico según el sexo (los hombres poseen mayor número de factores de riesgo vascular y afectación clínica de otros territorios; las mujeres son más sintomáticas, con HTA e HC), suelen presentarse clínicamente como síndromes lacunares, con escasa afectación ateromatosa carotídea significativa, excepto la EI de las arterias vertebrales. Las EI de las basilares son las más sintomáticas (AU)

Introduction. Intracranial stenoses (IS) are known to be a manifestation of atherosclerosis and a cause of cerebral ischemia, although very few clinical reports have appeared describing such patients in our milieu. Aims. The aim of this study was to describe the vascular risk factors, clinical presentation, radiological characteristics, aetiological role played in strokes and the vessels affected in a series of Spanish patients suffering from stroke and IS. Patients and methods. We conducted a retrospective descriptive study of patients admitted to the Cerebrovascular Pathology Unit with strokes and IS between 1990 and 2001. Data collected included: age, sex, arterial hypertension (AHT), diabetes (Db), hypercholesterolemia (HC), smoking (Sm), ischemic or emboligenic heart disease, intermittent claudication, carotid atheromatosis, clinical presentation of stroke and earlier lesions in computerised axial tomography (CAT) scans of the brain. Results. 132 patients; 187 stenotic vessels: 65.7% males, mean age 68.3 years. AHT 65%, Db 39%, HC 40%, Sm 43%, ischemic heart disease 22%, emboligenic heart disease 17%, intermittent claudication 13%. Clinical presentation: TIA 16%, LACI 33%; PACI 25%, TACI 4%, POCI 19%. Significant carotid atheromatosis 26.5%. Symptomatic IS 50%: mean age 63.3 years, 64% females. Arteries affected: vertebral (VA) 28%; middle cerebral (MCA) 27%; carotid siphon 21%; basilar (BA) 10% (65% symptomatic); anterior cerebral (ACA) 5% and posterior cerebral (CPA) 4%. Normal cranial CAT scan 24%, lacunar infarcts 42%, territorial 32%; leukoaraiosis 17%. Conclusions. Patients with stroke and IS display different clinical profiles according to their sex (males: a higher number of vascular risk factors and clinical involvement of other territories; females are more symptomatic, AHT and HC); they usually present clinically as lacunar syndromes, with a scarce amount of significant atheromatous carotid involvement, except IS of the VA. IS of the BA are the most symptomatic (AU)

[POEMS Syndrome with central and peripheric nervous system demyelination]. / Síndrome POEMS con desmielinización del sistema nervioso central y periférico.

POEMS syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes. This polyneuropathy belongs to the chronic inflammatory demyelinating polyradiculoneuropathies (CIDP) group. Sporadic reports have emphasized the clinical association between CIDP and central nervous system (CNS) demyelination, but as far as we know not in the context of POEMS syndrome. We report the case of a 67 years old patient who developed POEMS syndrome associated to Castleman's disease, characterized by demyelinating polyradiculoneuropathy, hepatosplenomegaly, mediastinal and supraclavicular adenopathies and monoclonal IgG lambda gammapathy. Cranial magnetic resonance imaging disclosed diffuse alteration of the cerebral white matter highly suggestive of demyelination. CNS demyelination can be another feature of POEMS syndrome. Cranial MRI should be performed in patients with POEMS syndrome in order to verify this new feature.

[Pseudotumor cerebri and systemic lupus erythematosus]. / Pseudotumor cerebri y lupus eritematoso sistémico.

Pseudotumor cerebri (PC) is a syndrome characterized by intracranial hypertension in the absence of any space-occupying lesion, hydrocephalus, cerebral sinus thrombosis and biochemical or cytological abnormalities in the CSF. PC has ben associated with several factors such as systemic conditions or drugs. We report here the case of a patient who presented with headache, vomiting and blurred vision accompanied by bilateral papilledema and had been diagnosed with systemic lupus erythematosus (SLE) seven years before. Treatment was started with high-dose corticosteroids with rapid resolution of the clinical symptoms and papilledema of the patient.

Pseudotumor cerebri y lupus eritematoso sistémico / Pseudotumor cerebri and systemic lupus erythematosus

El pseudotumor cerebri (PC) es un síndrome caracterizado por hipertensión intracraneal en ausencia de lesión ocupante de espacio, hidrocefalia, trombosis de senos venosos cerebrales y de anomalías bioquímicas o citológicas del líquido cefalorraquídeo. Se ha asociado a diversos factores como enfermedades sistémicas o fármacos. Presentamos una paciente, diagnosticada de lupus eritematoso sistémico (LES) 7 años antes, con un cuadro agudo de cefalea, vómitos y borrosidad visual acompañado de papiledema bilateral secundario a un PC. Se inició tratamiento con altas dosis de esteroides, con rápida resolución de los síntomas y del papiledema. (AU)

[Progressive amyotrophy of a limb as the presenting symptom of anchored spinal cord syndrome with spinal lipoma]. / Amiotrofia progresiva de una extremidad como síntoma de presentación del síndrome de médula anclada con lipoma espina.

OBJECTIVE: We present a case of progressive amyotrophy of a limb as the presenting symptom of the anchored spinal cord syndrome and review the principal clinical features of the syndrome, diagnostic tests which are useful in differentiating it from other conditions and its treatment. CLINICAL CASE: We describe a case of a young woman in whom the spinal cord was anchored by a spinal lipoma. At the onset of the disorder she complained of progressive muscular atrophy of the right leg and difficulty in dorsi-flexion of her right foot. Plain X-ray of the pelvis showed partial agenesis of the right lower hemisacrum and partial sacralization of L5. Lumbosacral CT and MR showed a lipoma to be present within the spinal canal and the thickened filum terminale anchored within the lipoma. During the next five months after diagnosis, the clinical picture worsened with paresia of flexo-extension of the right knee and of flexion of the right foot. Surgical treatment was therefore indicated. CONCLUSIONS: The anchored spinal cord syndrome should be considered in the differential diagnosis of spinal cord disorders presenting in adults, when there are other malformations such as agenesis of the sacrum. Surgical treatment is always indicated when there is evidence of worsening clinical condition.

Amiotrofia progresiva de una extremidad como síntomade presentación del síndrome de médula anclada con lipoma espinal / Progressive amyotrophy of a limb as the presenting symptom of an anchored spinal cord syndrome with a spinal lipoma

Objetivo. Presentar un caso de amiotrofia progresiva de una extremidad como forma de inicio del síndrome de médula anclada y revisar las manifestaciones clínicas principales de este síndrome, las pruebas diagnósticas útiles para diferenciarla de otras entidades y su manejo terapéutico. Caso clínico. Se describe un caso de médula anclada con lipoma espinal en una mujer joven que debutó con atrofia muscular progresiva del miembro inferior derecho y dificultad para la flexión dorsal del pie. La adiografía simple de pelvis reveló una agenesia parcial de hemisacro inferior derecho y sacralización parcial de L5. La TC y RM lumbosacra mostraron un lipoma dentro del canal espinal con filum terminale engrosado anclado en el lipoma. Hubo progresión clínica en los siguientes cinco meses tras el diagnóstico, con paresia para la flexo-extensión de la rodilla y flexión del pie derechos, por lo que se indicó tratamientoquirúrgico. Conclusiones. El síndrome de médula anclada debe considerarse en el diagnóstico diferencial de los cuadros medulares de comienzo en edad adulta en presencia de otras malformacionescomo la agenesia sacra. El tratamiento quirúrgico está indicado siempre que exista evidencia de progresión clínica (AU)