Estudio clínico y neuropatológico en dos hermanos con síndrome de Cockayne / Clinical and neuropathological study of two brothers with cockayne syndrome

Introducción. El síndrome de Cockayne es una rara enfermedad de herencia autosómica recesiva que asocia retraso de crecimiento, retraso mental, déficit neurológico progresivo, fotosensibilidad y otras alteraciones cutáneas. Generalmente también presentan alteraciones oftalmológicas, así como otros hallazgos clínicos, radiológicos y anatomopatológicos heterogéneos entre los que destacan lesiones leucodistróficas y calcificaciones en sistema nervioso central y desmielinización en el sistema nervioso periférico. Casos clínicos. Presentamos dos hermanos, hijos de padres sanos no consanguíneos.El primero consultó a los 8 meses por retraso psicomotor y el segundo a los 5 meses por una catarata. A los 2 años de edad ambos ya mostraban un cuadro más abigarrado con fotosensibilidad, retraso de crecimiento, retraso mental, neuropatía periférica, sordera neurosensorial, y en las pruebas de neuroimagen, signos de atrofia y calcificaciones encefálicas. Durante los siguientes años el paciente mayor desarrolló signos de leve insuficiencia renal, cataratas, retinopatía, y falleció a los 9 años por infección respiratoria. El estudio neuropatológico mostró una discreta pérdida neuronal y desmielinización parcheada con depósitos de calcio en la sustancia blanca y ganglios basales. En la actualidad el segundo paciente tiene 8 años y ha presentado una evolución similar a la de su hermano. Conclusión. Los hallazgos clínicos, radiológicos y neuropatológicos en nuestros pacientes apoyan el diagnóstico de síndrome de Cockayne tipo II (AU)

Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred.

Heterozygosity for beta-thalassemia (minor) by itself does not lead into iron overload; however, when it is inherited together with a homozygous state for either the H63D or the C282Y mutations of the hereditary hemochromatosis gene (HFE gene), iron overload may ensue. We describe here a kindred in which the propositus, being heterozygote for beta-thalassemia and the H63D mutation of the HFE gene, developed severe iron overload and in turn, chronic liver failure with portal hypertension. Other members of the family with either beta-thalassemia or heterozygous for the H63D gene mutation did not develop iron overload. The interaction between beta-thalassemia and hereditary hemochromatosis is briefly discussed and speculations about other possible genetic mutations leading into familial iron loading are done.

Síndromes neuromusculares del enfermo crítico / Neuromuscular syndromes of the critically ill

La supervivencia cada vez mayor de los enfermos críticos, está dando lugar a la aparición de nuevos y diversos síndromes neuromusculares. Generalmente consisten en cuadros de debilidad de aparición aguda o subaguda, cuya manifestación más típica es la imposibilidad para la desintubación del paciente, y se deben al desarrollo de una polineuropatía, una miopatía, un bloqueo neuromuscular prolongado (BNP) o a combinaciones de los anteriores. Aunque la etiología es multifactorial, los factores de riesgo principales para desarrollar estas alteraciones son el fallo multiorgánico y la sepsis en el caso de la polineuropatía, los esteroides y los bloqueantes neuromusculares (BNM) en el caso de la miopatía, y los BNM y el fallo renal y hepático en el caso del BNP. No hay tratamiento específico por lo que debido a la alta incidencia de estos síndromes y a su mal pronóstico, con una mortalidad mayor del 50 por ciento, conviene conocer, diagnosticar y evitar en la medida de lo posible los factores que desembocan en el desarrollo de estos cuadros (AU)

Síndromes neuromusculares del enfermo crítico / Neuromuscular syndromes of the critically ill

La supervivencia cada vez mayor de los enfermos críticos, está dando lugar a la aparición de nuevos y diversos síndromes neuromusculares. Generalmente consisten en cuadros de debilidad de aparición aguda o subaguda, cuya manifestación más típica es la imposibilidad para la desintubación del paciente, y se deben al desarrollo de una polineuropatía, una miopatía, un bloqueo neuromuscular prolongado (BNP) o a combinaciones de los anteriores. Aunque la etiología es multifactorial, los factores de riesgo principales para desarrollar estas alteraciones son el fallo multiorgánico y la sepsis en el caso de la polineuropatía, los esteroides y los bloqueantes neuromusculares (BNM) en el caso de la miopatía, y los BNM y el fallo renal y hepático en el caso del BNP. No hay tratamiento específico por lo que debido a la alta incidencia de estos síndromes y a su mal pronóstico, con una mortalidad mayor del 50 por ciento, conviene conocer, diagnosticar y evitar en la medida de lo posible los factores que desembocan en el desarrollo de estos cuadros. (AU)

[Neuromuscular syndromes of the critically ill]. / Síndromes neuromusculares del enfermo crítico.

With the continuous improvement in the survival of critical patients, new neuromuscular syndromes are being described. The clinical finding is an acute-subacute onset of generalised weakness with difficulty in weaning the patient from the ventilator, due to polyneuropathy, myopathy, prolonged neuromuscular blockade or a combination of these disorders. Although having a multifactorial ethiopathology, the major risk factors in the development of these disorders are multiple organ failure and sepsis for polyneuropathy; corticosteroids and neuromuscular junction blocking agents (NMB) for myopathy; and NMB and renal and liver failure for prolonged neuromuscular blockade. No specific treatment exists, which is why--due to the high incidence of these syndromes and their poor prognosis, with a mortality rate higher than 50%--we should recognise, diagnose and avoid, where possible, the conditions that help the development of these disorders.

[Clinical and neuropathological study of two brothers with Cockayne syndrome]. / Estudio clínico y neuropatológico en dos hermanos con síndrome de Cockayne.

INTRODUCTION: Cockayne syndrome (CS) is a rare autosomal recessive disease which is characterized by physical and mental retardation, progressive neurological disfunction, photosensitivity and other cutaneous features. Usually they present ophthalmologic abnormalities as well as other heterogenous clinical, radiological and pathologic features as leucodistrophy and calcifications in central nervous system and segmental demyelination in peripheral nervous system. CLINICAL CASES: Two brothers, sons of healthy unrelated parents, are presented. The first patient was referred at 8 months of age because of psychomotor retardation and the second one at 5 months old because of a cataract. At the age of 2 years both presented a complex clinical picture with photosensitivity, growth and mental retardation, peripheral neuropathy, neurosensorial deafness, and cerebral atrophy and calcifications in neuroimaging diagnosis tests. In the following years the older brother presented signs of renal failure, cataracts and retinopathy, and died at 9 years old because of a respiratory infection. The neuropathologic study showed a discrete neuronal loss and diffuse demyelination with calcium deposits in cerebral white matter and basal ganglia. Today the second patient is 8 years old and shows a clinical course similar to that of his brother. CONCLUSIONS: Clinical, radiologic and pathologic features in our patients support the diagnosis of CS type II.

[Familial benign partial epilepsy of early infancy]. / Epilepsia parcial benigna familiar de la infancia temprana.

INTRODUCTION AND CLINICAL CASES: We present two patients who at the ages of 5 and 17 months respectively presented with convulsive crises with motor signs, of partial onset and secondary generalization, which eventually became normal. Both patients had a family history of first degree relatives with similar illnesses and are at present-five years later-well and with normal development, school achievement and neurological examination findings. The clinical characteristics, normal biochemical and neuroimaging investigations and EEG characteristics suggest the diagnosis of benign partial epilepsy of early infancy. This syndrome is characterized by its appearance during the first year of life, having no known etiological factors, with partial crises occurring several times a day and with a course leading to remission. Its frequency may be greater than is thought. There is a pattern of dominant autosomal inheritance, with a gene recently found on chromosome 19. CONCLUSION: We consider that this syndrome should be included in the International Classification of Epilepsy and Epileptic Syndromes as benign familial idiopathic partial epilepsy.

[Neuromuscular disorders in critically ill patients]. / Alteraciones neuromusculares del paciente crítico.

INTRODUCTION AND OBJECTIVE: Critically ill patients admitted to the Intensive Care Unit (ICU) often develop neuromuscular disorders. The objective of this study was to diagnose these and determine the causes. MATERIAL AND METHODS: We present a series of 13 critically ill patients who developed weakness or paresia, reduced or absent ROT and normal brain stem reflexes, in whom ENG and EMG studies were done in EESS and II which were considered together with data from general laboratory analysis, radiological and microbiological examinations, medication given and posterior clinical course of the patient. Muscle biopsy was not done in any patient. RESULTS: All the patients were intubated, with signs of sepsis, multiple-organ failure and malnutrition. All had received cortico-steroids and amino-glucosides and 8/13 neuromuscular blockers. Neurophysiological study showed that in all cases there was axon type neuropathy, mainly motor and in the lower limbs. Fifty four percent of the patients died. The neuropathy improved in the others. CONCLUSIONS: Critically ill patients often have axon type neuropathy. In our series, the causes of this were sepsis and multiple organ failure. It is important that this pathology be ruled out in the critically ill patient whom it is difficult to disintubate and/or has generalized muscle weakness.

[Andermann syndrome: presentation of a case]. / Síndrome de Andermann. Presentación de un caso.

INTRODUCTION: Peripheral neuropathy with agenesis of the corpus callosum (or Andermann's syndrome) is a hereditary autosomal recessive disorder rarely found outside certain regions of Quebec Province (Canada). It is associated with mental retardation and various dysmorphic changes. Deterioration is usually progressive with loss of motor skills, development of scoliosis during adolescence, tendency to behaviour disorders and death during the third decade (approximately). CLINICAL CASE: We present a 13 year old girl diagnosed as having the spastic tetraparesic type of PCI, who was sent to us so that we could reconsider the diagnosis in view of the atypical course of the illness. The patient had an unusual phenotype with dysmorphic changes (mainly facial), axial hypotonia with flexion-retraction of the hands, generalized arreflexia, neurogenic bladder, skin changes with ulcers on the legs and mental retardation. Neurophysiological studies showed a predominantly motor polyneuropathy. There were signs of axonal neuropathy on both sural nerve and skeletal muscle biopsies. The clinical features, phenotype, microcephaly with agenesis of the corpus callosum and a posterior fossa cyst, associated with spinal atrophy indicated the diagnosis of Andermann's syndrome. CONCLUSIONS: This case is of interest in view of the exceptional rarity of Andermann's syndrome in our population.

The medical and economic impact of laparoscopically assisted vaginal hysterectomy in a large, metropolitan, not-for-profit hospital.

OBJECTIVE: Our purpose was to evaluate the medical and economic impact of of operative laparoscopy on the surgical approach to hysterectomy for benign disease in a large, metropolitan, not-for-profit hospital. STUDY DESIGN: Retrospective analyses were performed on 2563 hysterectomies (without vaginal or bladder repair) for benign disease, performed by 37 gynecologists between January 1991 and December 1993. Disposable laparoscopic instruments and stapling devices were not used at any time during the study period. Electrosurgery and sutures were used for hemostasis. Parameters analyzed included surgical approach (total abdominal hysterectomy, vaginal hysterectomy, laparoscopically assisted vaginal hysterectomy, and failed laparoscopically assisted vaginal hysterectomy), operative time, postoperative diagnosis, operative blood loss, length of stay, complications, uterine weight, and hospital changes. Charges in each of these parameters were analyzed and compared in 6-month increments. RESULTS: During the study period the percent of hysterectomies performed abdominally declined from 65% to 36%. Laparoscopically assisted vaginal hysterectomy increased from 12% to 45%, and vaginal hysterectomy varied from 23% to 19%. Average operative time was 82 minutes (+/- 2 minutes) for total abdominal hysterectomy, 102 minutes (+/- 2.3 minutes) for laparoscopically assisted vaginal hysterectomy, and 63 minutes (+/- 2 minutes) for vaginal hysterectomy. Hospital stay was 68 hours (+/- 1.5 hours) for total abdominal hysterectomy, 44 hours (+/- 1.2 hours) for laparoscopically assisted vaginal hysterectomy, and 43 hours (+/- 4.1 hours) for vaginal hysterectomy. The average hospital charge was $6552 (+/- $108) for total abdominal hysterectomy, $6431 (+/- $100) for laparoscopically assisted vaginal hysterectomy, and $5869 (+/- $116) for vaginal hysterectomy. CONCLUSIONS: Contrary to previously published studies, our study demonstrates (1) laparoscopically assisted vaginal hysterectomy is a cost-effective procedure when performed with reusable instruments, (2) laparoscopically assisted vaginal hysterectomy is a safe procedure, even when performed by a variety of gynecologists with different skill levels, and (3) the number of hysterectomies performed abdominally was decreased by 29% without incurring more complications or reducing the number of vaginal cases.