A possible new etiology for ophthalmic varicose veins: disseminated intracranial hyperostosis

We wanted to see if cranial anatomical alterations could influence the vascularization of the eyeball, particularly in the production of ophthalmic varicose veins. Orbital dissection of 85 years old woman (who suffered from Alzheimer's disease and respiratory failure).We observed, when performing a horizontal section of the skull to access the roof of the orbit, that the intracranial surface of the anterior and middle cranial fossae was partially covered by bony outgrowths, with the optical aperture and superior orbital fissure included. Also, when removing the roof of the orbits and beginning to extract the orbital fat we saw a dark, bilateral mass in the upper part of the orbital cavity corresponding to very dilated vessels. Bone alteration of the internal face of the skull was a diffuse intracranial hyperostosis and the dark dilated masses were superior ophthalmic varicose veins.Our hypothesis is that the origin of these ophthalmic varicose veins was the narrowing of the superior orbital fissure due to excessive bone proliferation. Intracranial hyperostosis produces a difficulty in draining orbital venous blood and, consequently, venous dilation. For this reason, we should consider this in the differential diagnosis

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Total parathyroidectomy with autotransplantation for a rare disease derived from uremic secondary hyperparathyroidism, the uremic leontiasis ossea.

SUMMARY: We described six uremic leontiasis ossea (ULO) patients who underwent total parathyroidectomy with autotransplantation. ULO demonstrated more a systemic disease than a simple craniofacial deformation. The surgery seemed an effective treatment to alleviate secondary hyperparathyroidism and to improve patients' quality of life. ULO may have a high postoperative recurrence tendency. INTRODUCTION: ULO is a rare disease derived from uremic secondary hyperparathyroidism (SHPT). Previous studies mostly focused on the craniofacial deformations. This study aims to investigate the systemic features of the disease and the surgical outcomes. METHODS: The present study retrospectively assessed six ULO patients who underwent total parathyroidectomy (TPTX) with autotransplantation (AT). Follow-up data were recorded. The follow-up status was considered as "effectiveness" if serum intact parathyroid hormone (iPTH) levels were <150 pg/mL in the first 3 days after surgery, or as "recurrence" if serum iPTH gradually increased >300 pg/mL during follow-up in patients whose status was initially considered as "effectiveness". RESULTS: Craniofacial deformations, short stature, thoracocyllosis, spine malformations, osteodynia, and muscle weakness were observed in all patients. Abnormal pulmonary functions were observed in five patients. After surgery, one patient died from respiratory failure. Surgery was effective in the remaining five patients with relieved osteodynia and stopped craniofacial deformation. A mean follow-up of 7.6 (4 to 12) months was available. Three patients suffered from recurrence of hyperparathyroidism originating from autografts. CONCLUSIONS: Our data suggests that ULO is not only a simple disease with craniofacial malformations but is a severe systemic disease leading to increased surgical risks. TPTX with AT seems an effective treatment to relieve SHPT and to improve quality of life. ULO may have a high postoperative recurrence tendency.

Bases para la terapia con líquidos y electrólitos. Modelos fisiológicos del equilibrio ácido-base (II): los nuevos modelos. Parte 1 / Basis for fluid and electrolyte therapy. Physiological mod­els of acid-base balance (II): the new models. Part 1

En las últimas dos décadas hemos asistido a una revolución en el conocimiento científico de la fisiología y las alteraciones del equilibrio ácido-base. En la primera parte de esta serie de artículos revisamos el modelo «tradicional», la aproximación centrada en el bicarbonato y basada en el trabajo pionero de Henderson y Halsselbalch, que es aún la más utilizada en la práctica clínica diaria. En la segunda y la tercera parte revisamos la teoría de otros modelos más modernos, particularmente el de Stewart, derivado al final de los años setenta desde las leyes de la química física. Con este modelo, tal como fue desarrollado por Peter Stewart y Peter Constable, utilizando la presión parcial de dióxido de carbono (pCO2), la diferencia de iones fuertes (SID) y la concentración total de ácidos débiles ([Atot]), somos capaces de predecir con exactitud la acidez del plasma y deducir el saldo neto de iones no medidos (NUI). La interpretación del equilibrio ácido-base no será nunca más un arte intuitivo y arcano. Se ha convertido en un cálculo exacto que puede realizarse automáticamente con ayuda del software moderno. En las últimas tres partes, utilizando a pie de cama el strong ion calculator y la historia clínica, mostraremos cómo el modelo fisicoquímico cuantitativo tiene ventajas sobre los tradicionales, principalmente en las situaciones fisiológicas extremas que se viven con los pacientes de la unidad de cuidados intensivos pediátrica o en las alteraciones congénitas del metabolismo (AU)

A revolution has recently undergone in the last two decades in the scientific understanding of acid-base physiology and dysfunction. In the first part of this series we review the "traditional" model, the current bicarbonate-centered approach based on the pioneering work of Henderson and Halsselbalch, still the most widely used in clinical practice. In the second and third part we review theoretically other modern approaches, particularly Stewart's one, derived in the late 1970s from the laws of physical chemistry. Whit this approach, as developed by Peter Stewart and Peter Constable, using the partial pressure of carbon dioxide (pCO2), the strong ion difference (SID) and the concentration of weak acids ([Atot]) we can now predict accurately the acidity of plasma and deduce the net concentration of unmeasured ions (NUI). Acid-base interpretation has ceased to be an intuitive an arcane art and became an exact computation that can be automated with modern software. In the last three parts, using at the bedside the quantitative Strong Ion Calculator together with the medical history, we show how quantitative acid-base analysis has advantages over traditional approaches, mainly in the extreme physiological situations of clinical scenarios like the paediatric intensive care unit or the congenital metabolic diseases (AU)

Causa inusual de dificultad respiratoria: hernia de Morgagni asociada con el síndrome de Down / Unusual cause of respiratory distress: Morgagni hernia associated to Down’s syndrome

La hernia de Morgagni (HM) es una hernia diafragmática poco frecuente, con un índice de hernias diafragmáticas congénitas del 2%. El síndrome de Down (SD) es la anomalía cromosómica más frecuente notificada. Desde el punto de vista clínico, hay una variación muy amplia entre individuos por sus rasgos característicos y las malformaciones sistémicas asociadas. La coexistencia de hernia de Morgagni y síndrome de Down se ha notificado en aproximadamente un 20%. En el servicio de urgencias se ingresó a una mujer con SD para evaluar una neumonía recurrente acompañada de fiebre y tos seca persistente. En este caso, se observó que la anomalía radiográfica era en realidad HM, con asas intestinales en el lado derecho del tórax. Presentamos este caso para dejar constancia de una asociación asintomática entre el SD y la HM (AU)

Morgagni hernia (MH) is a rare diaphragmatic hernia with 2% rate of congenital diaphragmatic hernias. Is reported Down’s syndrome (DS) the most common chromosomal anomaly. There is a wide range variation among individuals clinically by its characteristic features and associated systemic malformations. The coexistence of Morgagni hernia and DS is reported approximately 20% . A female patient with DS was admitted to emergency department for evaluation of recurrent pneumonia accompanied by persistent dry cough and fever. In the case the radiographic abnormality was actually found to be MH with intestinal loops in the right thorax. We report this case to notify an asymptomatic association between DS and MH (AU)

Frontal cortex dysfunction due to extensive hyperostosis frontalis interna.

An 87-year-old patient was found to have an unusually protrusive hyperostosis frontalis interna, discovered on MRI examination during an assessment of cognitive decline. Neuropsychological evaluation suggested direct repercussions of the frontal lobe compression on executive functions, as well as psychiatric disorders and possibly memory loss.

Síndrome de Stewar-Treves / Stewart-Treves syndrome

El síndrome de Stewart-Treves es uno de los tumores vasculares más agresivos, siendo su diagnóstico muchas veces tardío. Se define como un tumor maligno de origen lingfático (linfangiosarcoma) que se origina en la extremidad superior afecta de linfedema crónico secundario a mastectomía por neoplasia de mama. Su incidencia del 0,5% de los pacientes con linfedema postmastectomía, apareciendo en una media de 9 años después del inicio del linfedema. Se caracteriza por la presencia de una o múltiples máculas de color rojizo o rojo-púrpura en el miembro superior que tienden a crecer y multiplicarse convirtiéndose en nódulos duros, con tendencia a la ulceración y hemorragias espontáneas. Cursan con metástasis precoces a nivel torácico. Creemos importante que los cirujanos vasculares conozcan esta enfermedad, siendo el diagnóstico precoz y el tratamiento multidisciplinar la única esperanza para estos pacientes

Stewart-Treves Síndrome is one of the most aggresive vascular neoplasm. Sometimes the diagnosis is late. This neoplasm is a lymphatic tumor (lymphangiosarcoma) which appears in an upper limb with chronic lymphedema postmastectomy, arising 9 years after the appearance of lymphedema´s symptoms. The clinical features are one or multiple rose or red-purple macular lesions in the upper limb. The natural evolution of the lesions are growing and becoming a hard nodule with tendency of ulceration and spontaneous hemorrhage. The thoracic metastasis is early. We think is important that the vascular surgeons recognize this pathology, being the early diagnosis and the multidisciplinary treatment the unique opportunity for these patients

Facial changes in adult uremic patients on chronic dialysis: possible role of hyperparathyroidism.

BACKGROUND: Uremic patients on regular dialytic treatment (RDT) are often affected by a complex metabolic syndrome leading to osteodystrophy. Bone changes are primarily due to high bone turnover, often combined with a mineralization defect leading to increased bone fractures and bone deformities. Although rarely considered, the craniofacial skeleton represents one of the peculiar targets of this complex metabolic disease whose more dramatic pattern is a form of leontiasis ossea. This complication, although described, has never been evaluated in depth nor quantitatively assessed. In order to assess facial deformities in uremic conditions and to understand the possible relation with hyperparathyroidism, we undertook a quantitative evaluation of soft facial structures in a cohort of uremic patients undergoing RDT. METHODS: The three-dimensional coordinates of 50 soft-tissue facial landmarks were obtained by an electromagnetic digitizer in 10 male and 10 female patients with chronic renal insufficiency aged 53-81 years, and in 34 healthy individuals of the same age, ethnicity and sex. Uremic patients were enrolled according to hyperparathyroid status (PTH < 300 pg/mL and PTH > 500 pg/mL). From the landmarks, facial distances, angles and volumes were calculated according to a geometrical face model. RESULTS: Overall, the uremic patients had significantly larger facial volumes than the reference subjects. The effect was particularly evident in the facial middle third (maxilla), leading to an inversion of the mandibular-maxillary ratio. Facial dimensions were increased in all three spatial directions: width (skull base, mandible, nose), length (nose, mandible), and depth (mid face, mandible). The larger maxilla was accompanied by a tendency to more prominent lips (reduced interlabial angle). Some of the facial modifications (nose, lips, mandible) were significantly related to the clinical characteristics of the patients (age, duration of renal insufficiency and PTH levels). CONCLUSIONS: This report, the first in the literature, shows that facial structures of uremic patients are enlarged in comparison with matched normal subjects and that increased bone turnover could be responsible--at least in part--for facial bone changes.

Morgagni Stewart Morel syndrome--additional features.

A case of Morgagni Stewart Morel syndrome with progressive depression in frontal bone, headache, transient monoparesis, obesity; imbalance, neuropsychiatric symptoms and recurrent disc prolapse with absent right radial pulse is discussed. This syndrome was first mentioned 235 years back, but till now exact pathology is not known. Balance assessment using dynamic posturography was done, which revealed abnormal vestibular function. To our knowledge this is the first case examined for Dynamic Posturography.

Evidence of a genetic basis of Morgagni-Stewart-Morel syndrome. A case report of identical twins.

We report two 71-year-old female monozygotic twins presenting with advanced hyperostosis frontalis interna, obesity, shortness and cognitive impairment. They both have suffered from generalized seizures since their early adulthood. Moreover, the patients showed some additional conditions only occurring in one individual or the other such as migraine, marked recurrent depressive disorder or polyarthrosis. The symptoms common to both twins appear to correspond to the Morgagni-Stewart-Morel syndrome and indicate a genetic basis of this disorder as these features occur in genetically identical patients.

Are hyperostosis frontalis interna and leptin linked? a hypothetical approach about hormonal influence on human microevolution.

It is striking that evidence for hyperostosis frontalis interna - a phenomenon of exclusive bilateral thickening of frontal endocranial surface - in archaeological samples is very rare in contrast to its modern prevalence. Because microevolutionary changes have been shown for various human characteristics any alteration of hormonal levels is very likely. Selection pressure was definitively higher in earlier times. This favoured prolonged alertness in order to access sufficient food, shorter feeling of satiety, lower level of fat metabolism, lower metabolic rates and, therefore, lower level of leptin - a 167 amino acid peptide mainly involved in human total body fat regulation. Its effects on bone metabolism are still debated. Nevertheless, we postulate the following hypothesis: In humans a decrease of selective pressure favoured an increased metabolic rate. This, being related to the higher level of leptin caused an increase of localized bony overgrowth like hyperostosis frontalis interna.

P300 and executive function alterations: possible links in a case of Morgagni-Stewart-Morel syndrome.

To evaluate possible cause-effect relationships between hyperostosis frontalis interna and cognitive dysfunction, we performed a neurophysiological (event-related potentials, ERPs) and neuropsychological study in a case of Morgagni-Stewart-Morel (MSM) syndrome associated with frontal lobe compression. Neuropsychological evaluation evidenced selective impairment of executive function. Visual and auditory oddball ERPs revealed delayed P300 latency and reduced auditory P300 amplitude with multi-peaked morphology. ERP abnormalities and cognitive dysfunction could be due to the frontal bone-cortex conflict documented by neuroradiological investigations.

[Three elderly cases of hyperostosis cranii with various clinical symptoms].

We report three elderly patients with hyperostosis cranii (HC). Patient 1 had two episodes of unconsciousness; patient 2, headache; and patient 3, dementia. On the basis of the classification of Moore using skull films, patients 1 and 2 showed hyperostosis frontoparietalis and patient 3 had hyperostosis frontalis interna. Electroencephalography showed transient generalized spike and slow wave complexes over the frontal lobes in patient 1. Magnetic resonance (MR) images showed frontal lobes compressed by the thickness of the frontal bones in all patients and thickened parietal bones in patients 1 and 2. Because findings in our series and in the literature suggest that HC may show unexpected neuropsychiatric symptoms, HC should be checked in elderly patients whose presenting symptoms include epilepsy, dementia, psychiatric disease, headache and so on. MR images should reveal the relationship between clinical symptoms and the deformation of brains by the skull.

Leontiasis por displasia fibrosa poliostótica. Presentación de un caso

Se presenta el caso de una paciente de 48 años con diagnóstico de displasia fibrosa quien consulta en ésta oportunidad por vértigo. Existen antecedentes de sordera y déficit de otros pares craneannos. Los hallazgos craneofaciales en la escanografía dde reagiones petromastoideas y los huesos de la base de cráneo y reconstrucción tridimensional craneofacial consisten en engrosamiento del diploe con alteración de la densidad y distorsión en la apariencia de la trabécula ósea con estenosis secundaria de todos los forámenes de la base del cráneo incluidos los conductos auditivos internos y el canal facial. Dichos hallazgos se pueden correlacionar con los síntomas de la paciente y los hallazgos de su examen físico y neurológico.

Síndrome de Morgagni-stewrt-morel-moore, una asociación no infrecuente pocas veces reconocida

Los autores presentan un caso de hiperostosis frontal interna asociada a cefalea, nauseas y vertigo en una paciente de 76 años. Esta es una entidad clínica pocas veces reconocida y que se ha denominado síndrome de Morgagni-Stewart-Morel-moore. Se hace una revisión de la literatura sobre el mencionado síndrome, así como acerca de la asociación de hiperostosis frontal interna con síntomas neurológicos y las actuales aproximaciones terapeúticas

[The Stewart-Morel syndrome in the differential diagnosis of patients with frontal headache]. / Síndrome de Stewart-Morel en el diagnóstico diferencial del paciente con dolor de localización frontal.

Hyperostosis frontalis interna is the name generally applied to skull thickening more or less restricted to the squamous portion of the frontal bone and involving, in particular, its subdural or inner surface. The association of this calvarial thickening with virilism and obesity is a clinic-anatomic complex often know as the Morgagni's syndrome and is also referred to as the Stewart-Morel syndrome or metabolic craniopathy, when accompanied by mental disorders. Hyperostosis frontalis interna is being discussed here mainly in connection with the Stewart-Morel's syndrome of which it is the pivotal feature. Frontal headache is a common complaint and is severe in some cases. In addition various neuropsychiatric disturbances may be manifested.

Hyperostosis frontalis and prolactin secretion.

The authors have evaluated the secretion of prolactin after dopaminergic blockade with metoclopramide in female patients revealing hyperostosis frontalis. A slight but significant increase of PRL mobilization in patients with HF was found as compared to healthy women.