Una causa excepcional de deterioro neurológico repentino y coma / An exceptional cause of sudden neurological deterioration and coma

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Carcinoma tricofolicular con capacidad metastásica / Trichofollicular carcinoma with metastatic spread

El carcinoma folicular es un tumor maligno derivado del folículo piloso. La mayor parte de los tumores foliculares son benignos, pero en los últimos años se han publicado casos aislados de tumores anexiales con características de malignidad y con una gran agresividad local siendo en principio tumores que se consideraban benignos. Creemos que este tumor está siendo infradiagnosticado, y como consecuencia, infratratado al ser confundido con otros tumores malignos originados en la piel, como el carcinoma basocelular y sobre todo con el carcinoma epidermoide, en parte por poca documentación y por la dificultad para su diagnóstico anatomopatológico. Presentamos un caso de carcinoma tricofolicular en cuero cabelludo en una mujer de 51 años de edad que rápidamente invade sistema nervioso central y que en solo 3 meses metastatiza a pulmón (AU)

Trichofollicular carcinoma is a malignant tumour derived from the hair follicle. Most of follicular tumours are benign, but in the last years, single case reports with malignant neoplasms originated in hair and hair follicle have been published. This type of tumour is underdiagnosed because they are often confused with other skin tumours but its behaviour is much more aggressive, therefore, accurate diagnosis becomes especially important. We report a case of a 51-year-old woman with trichofollicular carcinoma with invasion of skull and dura, and only 3 months later, metastatic spread to the lung (AU)

Varón de 38 años infectado por VIH con focalidad neurológica durante el tratamiento de hepatitis C / A 38-year old HIV infected male with neurological focality during treatment of hepatitis

Varón de 38 años infectado por el virus de la inmunodeficiencia humana (VIH) (con buen control inmunológico y virológico) y virus de la hepatitis C (VHC), que tras iniciar tratamiento con interferón, comienza con pérdida de fuerza en hemicuerpo izquierdo y parestesias en 4.° y 5.° dedos de la mano izquierda con inestabilidad de la marcha. Se solicitan pruebas de imagen y microbiológicas, requiriendo biopsia cerebral para llegar al diagnóstico(AU)

A 38-year old HIV infected male (with adequate immunologic and virologic control) and HCV who, after starting treatment with interferon, experienced loss of strength in the left hemisphere and parenthesis in 4th and 5th fingers of the left hand along with walking instability. Imaging and microbiological tests were performed, brain biopsy finally being necessary for the diagnosis(AU)

[A 38-year old HIV infected male with neurological focality during treatment of hepatitis]. / Varón de 38 años infectado por VIH con focalidad neurológica durante el tratamiento de hepatitis C.

A 38-year old HIV infected male (with adequate immunologic and virologic control) and HCV who, after starting treatment with interferon, experienced loss of strength in the left hemisphere and parenthesis in 4th and 5th fingers of the left hand along with walking instability. Imaging and microbiological tests were performed, brain biopsy finally being necessary for the diagnosis.

Enfermedad de Cushing en la edad pediátrica. Tratamiento y evolución / Cushing’s syndrome in pediatric age. Treatment and evolution

El síndrome de Cushing endógeno es infrecuente en pediatría. La causa principal son los tumores hipofisarios productores de corticotropina (enfermedad de Cushing). Debe sospecharse en todo niño con una ganancia ponderal injustificada asociada a una disminución de la velocidad de crecimiento. La primera opción terapéutica en la enfermedad de Cushing es la adenomectomía transesfenoidal, seguida de la radioterapia si persiste el hipercortisolismo. Tras el tratamiento pueden asociarse alteraciones hipofisarias que precisen terapia sustitutiva; el déficit de hormona del crecimiento en niños puede originar un crecimiento recuperador insuficiente. Presentamos el caso de una niña de casi 11 años de edad, con ganancia ponderal injustificada, estancamiento del crecimiento, virilización y miopatía proximal. Mediante las determinaciones hormonales se confirmó un hipercortisolismo dependiente de corticotropina. La resonancia magnética craneal puso de manifiesto un microadenoma hipofisario, que se resecó mediante adenomectomía transesfenoidal, con remisión clínica y analítica. Previamente se había instaurado tratamiento con ketoconazol para controlar el hipercortisolismo. Al cabo de 4 años no había signos de recidiva (AU)

Endogenous Cushing’s syndrome is rare endocrine disorders in pediatric age whose most common cause are the pituitary tumors producers of adrenocorticotropin (ACTH) (Cushing’s syndrome, CS). This disease must be suspected in any children with unjustified weight gain associated with a decrease in the speed of growth. The first therapeutic option in the CS is the transsphenoidal adenomectomy, followed by radiotherapy if CS persists. After the treatment pituitary disorders can be associated which will need a substitutive therapy, growth hormone deficit can cause an inadequate catch-up growth in children. We report the case of a nearly 11 years-old girl with unjustified weight gain, growth stagnation, signs of virilization and proximalmyopathy. Through hormonal determinations was confirmed an ACTH-dependent hypercortisolism was confirmed. The cranial MRI showed a pituitary micro adenoma that was removed through transsphenoidal adenomectomy with clinical and analytic remission. Before surgery, ketoconazole was used in order to control hypercortisolism. There were no signs of relapse four years later (AU)

[Modified aspiration needle muscular biopsy in neuromuscular diseases. Use and advantages over open surgical biopsy]. / Estudio de las enfermedades neuromusculares por biopsia percutánea mediante aguja con aspiración modificada. Utilidad y ventajas sobre la biopsia quirúrgica.

OBJECTIVE: To evaluate aspiration needle muscular biopsy as an alternative to surgical open biopsy, so we focus on its results and tolerance. PATIENTS AND METHODS: We studied 150 patients with muscular pathology of every kind, and aged between 10 and 86 years, using a modified Allendale/Liverpool needle which by our indication has a built-in lateral funnel that provides faultless aspiration in 100% of cases. Percutaneous biopsy neuromuscular disorders study with modified aspiration Allendale needle: use and advantages over surgical biopsy. RESULTS: The biopsy, which was very well tolerated by the patients, children in particular, left no scar and produced fine samples for standard, immunohistochemical, ultrastructural, biochemical and genetic investigation. In children beyond 10 years of age no general anesthetics was required and in many 4-10 years neither. A number of unsuspected cases of mitochondrial or inflammatory myopathy were detected. Patients with cramps or unclearly defined clinical picture did, however, show frequent morphological pathology. In just three cases samples were defective; all others produced changes of diagnostic or prognostic value with 8% without morphologically abnormal changes. CONCLUSIONS: Modified aspiration needle biopsy is the choice method to study muscle. The samples are of excellent quality allowing for any kind of morphological, biochemical or genetic investigation. The procedure is routinely very well tolerated by patients so is very superior to open surgical biopsy, that we still use for infants in selected cases.

Estudio de las enfermedades neuromusculares por biopsia percutánea mediante aguja con aspiración modificada. Utilidad y ventajas sobre la biopsia quirúrgica / Modified aspiration needle muscular biopsy in neuromuscular diseases. Use and advantages over open surgical biopsy

Introducción. La biopsia muscular percutánea es una alternativa a la biopsia quirúrgica abierta; intentamos evaluar sus ventajas y resultados. Pacientes y métodos. Se estudiaron 150 pacientes entre 10 y 86 años empleando de una aguja con aspiración de tipo Allendale/Liverpool, con una embocadura lateral para efectuar la aspiración. Los pacientes presentaban cuadros diversos de patología muscular. Resultados. La tolerancia es muy buena, y en niños de edad inferior a 10 años, muy a menudo, no se requiere anestesia general. No queda cicatriz y el material es suficiente para el estudio morfológico, histoquímico, citoarquitectural, bioquímico y genético. De todos los casos, solamente en tres las tomas no fueron valorables; el resto de las tomas aportaron información diagnóstica y pronóstica, o no específica pero pronóstica, y en un 8 por ciento fueron normales. Se han detectado numerosos casos de miopatía inflamatoria o mitocondrial no sospechados clínicamente. Los grupos de pacientes con sintomatología mal definida y calambres muestran una elevada tasa de patología subyacente. Conclusión. Los resultados muestran que la biopsia por aguja con aspiración con la modificación sugerida por nosotros es el procedimiento de elección para el estudio del músculo; produce un material que permite un estudio morfológico completo y fiable, así como estudios bioquímicos y genéticos, con una mínima molestia, y, en conjunto, es claramente ventajosa sobre la biopsia quirúrgica, que nosotros reservamos para casos aislados en niños muy pequeños (AU)

Objective. To evaluate aspiration needle muscular biopsy as an alternative to surgical open biopsy, so we focus on its results and tolerance. Patients and methods. We studied 150 patients with muscular pathology of every kind, and aged between 10 and 86 years, using a modified Allendale/Liverpool needle which by our indication has a built-in lateral funnel that provides faultless aspiration in 100% of cases. Percutaneous biopsy neuromuscular disorders study with modified aspiration Allendale needle: use and advantages over surgical biopsy. Results. The biopsy, which was very well tolerated by the patients, children in particular, left no scar and produced fine samples for standard, immunohistochemical, ultrastructural, biochemical and genetic investigation. In children beyond 10 years of age no general anesthetics was required and in many 4-10 years neither. A number of unsuspected cases of mitochondrial or inflammatory myopathy were detected. Patients with cramps or unclearly defined clinical picture did, however, show frequent morphological pathology. In just three cases samples were defective; all others produced changes of diagnostic or prognostic value with 8% without morphologically abnormal changes. Conclusions. Modified aspiration needle biopsy is the choice method to study muscle. The samples are of excellent quality allowing for any kind of morphological, biochemical or genetic investigation. The procedure is routinely very well tolerated by patients so is very superior to open surgical biopsy, that we still use for infants in selected cases (AU)

[Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain]. / Neuropatías sensitivas autonómicas hereditarias. Dos casos con insensibilidad congenita al dolor; aspectos neurofisiológicos y patológicos.

AIM: Two patients suffering from congenital insensitivity to pain were studied. They corresponded to types IV and V of the 'hereditary sensory and autonomic neuropathies' (HSAN) classification. CASE REPORTS: The first case showed important autonomic dysfunctions, such as anhidrosis, hyperthermia, skin and bone trophic impairment, and mental retardation; the second one only exhibited alterations in pain and temperature sensibilities. In both, chronic indolent corneal ulcers were also present. Conventional neurophysiological evaluation of the neuromuscular system was normal, but an afferent disturbance of the blink reflex (BR) was evident in both. The sympathetic skin response was absent in the HSAN type IV case and normal in the HSAN type V. Notable reduction of the small myelinated fibres, associated to almost no unmyelinated fibres in the first case, were found in the sural nerve biopsies. CONCLUSIONS: So far there haven't been described BR abnormalities in patients with congenital insensitivity to pain, which should be related to a trigeminal sensory impairment, which could explain the corneal ulcers that suffered these cases. BR studies should be included in the neurophysiological evaluation of the suspected small fibre neuropathies even when there are no facial symptoms shown.

Neuropatías sensitivas autonómicas hereditarias. Dos casos con insensibilidad congénita al dolor: aspectos neurofisiológicos y patológicos / Hereditary sensory and autonomic neuropathies. The neurophysiological and pathological aspects of two cases with congenital insensitivity to pain

Introducción. Se estudian dos casos de insensibilidad congénita al dolor que correspondían, en la clasificación de las neuropatías sensitivas autonómicas hereditarias (NSAH), a los tipos IV y V. Casos clínicos. El primer caso asociaba trastornos autonómicos muy importantes, con anhidrosis, hipertermia, lesiones tróficas cutáneas y óseas y retraso mental; el segundo sólo presentaba alteraciones muy intensas de la sensibilidad dolorosa y térmica; ambos mostraban úlceras corneales recurrentes graves. La valoración convencional neurofisiológica del sistema neuromuscular fue normal, pero en ambos casos existían anomalías en la aferencia del reflejo de parpadeo (RP); la respuesta simpática cutánea estaba abolida en el caso de la NSAH tipo IV y era normal en la NSAH tipo V. Las biopsias de nervio sural mostraban una deficiencia marcada de fibras mielínicas finas, que se asociaba a una ausencia casi completa de las amielínicas en el primer caso. Conclusiones. La alteración no descrita hasta el momento del RP en casos de insensibilidad congénita al dolor debería relacionarse con una afectación sensitiva del territorio trigeminal que, a su vez, en los casos actuales, explicaría la presencia de las úlceras corneales. El estudio del RP debería considerarse sistemáticamente en la valoración neurofisiológica de las neuropatías de fibras finas y de mediano calibre, incluso sin afectación clínica del segmento facial (AU)

Introduction. Two patients suffering from congenital insensitivity to pain were studied. They corresponded to types IV and V of the ‘hereditary sensory and autonomic neuropathies’ (HSAN) classification. Case reports. The first case showed important autonomic dysfunctions, such as anhidrosis, hyperthermia, skin and bone trophic impairment, and mental retardation; the second one only exhibited alterations in pain and temperature sensibilities. In both, chronic indolent corneal ulcers were also present. Conventional neurophysiological evaluation of the neuromuscular system was normal, but an afferent disturbance of the blink reflex (BR) was evident in both. The sympathetic skin response was absent in the HSAN type IV case and normal in the HSAN type V. Notable reduction of the small myelinated fibres, associated to almost no unmyelinated fibres in the first case, were found in the sural nerve biopsies. Conclusions. So far there haven’t been described BR abnormalities in patients with congenital insensitivity to pain, which should be related to a trigeminal sensory impairment, which could explain the corneal ulcers that suffered these cases. BR studies should be included in the neurophysiological evaluation of the suspected small fibre neuropathies even when there are no facial symptoms shown (AU)

Vascular tumors of the mammary gland. A histochemical and ultrastructural study.

A total of five haemangiosarcomata and two benign haemangiomas arising in the mammary gland have been studied electron microscopically and by histochemical techniques. Malignant tumors were mainly composed of endothelial cells reactive to alkaline phosphatase and adenosine triphosphatase, and of pericytes and undifferentiated mesenchymal elements. A juvenile haemangioma showed a more structured wall with an increase of endoplasmic reticulum and filaments, and a diminution of membrane modulations and rod-like tubular bodies. A cavernous haemangioma showed an ultrastructure very similar to normal vessels. The ultrastructural and histochemical data suggest a blood vessel origin of mammary angiosarcomas and show that vascular neoplasms of the breast, benign or malignant, are composed of a combined proliferation of the different cell types present in the vessel wall, as described in other organs.