Myelopathy due to spinal epidural abscess without cord compression: a diagnostic pitfall.

Spinal epidural abscess (SEA) is a neurological emergency that requires urgent diagnosis and treatment. We report 2 patients with SEA, in whom, on neuropathological examination, the neurological signs were found to be caused by spinal cord ischemia due to thrombosis of leptomeningeal vessels and compression of spinal arteries, respectively, while evidence of spinal cord compression was absent. Clinicians and neuropathologists should be aware of the variable mechanisms underlying the neurological involvement in SEA. Absence of spinal cord compression by the abscess may hamper early diagnosis and treatment.

[Two patients with retroperitoneal paragangliomas]. / Twee patiënten met een retroperitoneaal paraganglioom.

A 35-year-old woman and a 36-year-old man presented with abdominal complaints which, in both cases, appeared to be due to an unusual retroperitoneal tumour, namely a paraganglioma. Three years after radical excision the women had no complaints, while the male patient had developed metastatic disease; he was still alive 6 years after excision. Paragangliomas are sporadic tumours. Although well defined, these tumours are not well known, mainly due to the numerous different names used to describe them in the literature. These neuro-endocrine tumours arise from hyperplastic paraganglionic cells and occur in or near the ganglia of the autonomic nervous system. Paragangliomas may produce catecholamines and, on the basis of this, are classed as either functional or non-functional. In the absence of metastases, there are no definitive clinical, histopathological or molecular-biological parameters to predict whether a tumour is benign or malignant. Macroscopic radical surgical excision is therefore the treatment of choice. Five- and ten-year survival rates of a radically excised paraganglioma are 75% and 45%, respectively. In the case of metastatic disease, half the patients will die within 3 years. If a paraganglioma is found, genetic screening for familial neoplastic syndromes is advised.

Cerebral hemorrhage complicating exertional heat stroke.

Exertional heat stroke may be complicated by mild neurological deficits, usually with complete convalescence. This may be associated with metabolic disorders inherent to hyperthermia such as a marked coagulopathy. We report a case of a previously healthy 20 year old male who died in the course of exertional heat stroke complicated by intracerebral hemorrhage.

Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study.

Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients were investigated for the expression of laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin) and dystrophin. Expression of these proteins was normal in six out of eight patients with pure-CMD, in three non-Japanese patients clinically resembling Fukuyama-CMD (F-CMD), and in two patients with Walker-Warburg syndrome (WWS). The two 'pure'-CMD patients with white matter hypodensity showed severely decreased laminin-alpha2 expression and normal expression of the other proteins. Our findings in the non-Japanese patients, clinically resembling F-CMD, are different from those in Japanese cases with F-CMD in the literature. Consequently, our patients suffer from WWS or from another yet undetermined form of CMD.

Congenital muscular dystrophy: a review of the literature.

Congenital muscular dystrophy (CMD) is a condition in which there are already at birth, marked hypotonia, generalized muscle weakness and frequently multiple contractures. CMD has recently been classified into four categories: CMD I, the classical or "pure' CMD without severe impairment of intellectual development; CMD II, the Fukuyama type CMD with muscle and structural brain abnormalities; CMD III and IV with muscle, eye and brain abnormalities; the milder Finnish type CMD (CMD III) and the severe Walker-Warburg syndrome (CMD IV). Data of the literature concerning those different CMD types have been reviewed and are presented with emphasis on signs and symptoms, clinical course, laboratory, neurophysiological, radiological, morphological and genetic characteristics.

White matter abnormalities in congenital muscular dystrophy.

Central nervous system (CNS) characteristics were examined in seventeen patients with autosomal recessive classic or "pure" congenital muscular dystrophy (CMD). In three patients, neuroradiological examination (CT/MRI) indicated hypodense white matter areas. Two out of these three patients had epilepsy (seizures and epileptic discharges on their EEG). Only two of the remaining patients had epileptic EEG discharges, but without clinical seizures. By comparing our results to data in the literature, we could conclude that the classic or "pure" form of CMD can be subdivided into two subtypes, i.e. those with and those without white matter hypodensities. A mild form of epilepsy or an epileptic predisposition on EEG can be part of the subtype with white matter hypodensities.

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings.

Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There as no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.

Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies.

Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on the CT scans of 2 patients with (sub)normal intelligence (occidental-type cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in 'pure' CMD (pure-CMD). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.

Dystrophic myopathy of the diaphragm in a neonate with severe respiratory failure during infectious episodes.

In this study a boy is described who showed slight postnatal asphyxia related to isolated dystrophic diaphragmatic musculature. Development was complicated by several periods of bronchopneumonia necessitating artificial respiration each time.

Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.

From four Dutch families six patients, who have congenital muscular dystrophy, involvement of the central nervous system and of the eyes, or the so-called "muscle, eye and brain disease" (MEB-D), are reported. Two patients are still alive, in four autopsy could be performed. The clinical and morphological data of our patients are compared to those described in recent literature. The progression of the disease was rapid in five of our six patients. Our study supports the idea that within the MEB-D syndrome there are at least two different types of clinical expression, one with a rapid progression as described by Dobyns et al 1989 (9) and one with a slower progression as described in most patients of Santavuori et al 1989 (23). The study also confirms the autosomal recessive mode of inheritance of MEB-D.

Familial adult-onset muscular dystrophy with leukoencephalopathy.

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.

Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.

Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.

Congenital muscular dystrophy.

We report the cases of 18 patients with congenital muscular dystrophy, six of whom also have involvement of the central nervous system, corresponding to the Fukuyama type of congenital muscular dystrophy. In four patients, both the central nervous system and the eyes are involved, and the diagnosis of "muscle, eye and brain disease" was made. A comparative study of these patients with those whose cases were recently reported indicates that there is a wide variability of clinical and laboratory expression of the dystrophy, but a constant feature in all patients is a progression of motor disability. The association of congenital muscular dystrophy with brain abnormalities indicates a poor clinical prognosis. At present it remains an open question whether the three variants of the disease are separate diseases or only different expressions of the same syndrome, but our study tends to support the latter hypothesis.

Asymptomatic carotid bruit in patients who undergo coronary artery surgery.

The clinical significance of the presence of carotid bruit was evaluated in 643 patients who underwent coronary artery surgery alone or in combination with other cardiac procedures. Carotid bruit was heard in 31 patients (5%) who were neurologically asymptomatic. All of them underwent coronary artery surgery without additional carotid procedures, and none of them developed neurological deficits during the postoperative period. Of the remaining 612 patients, 18 were identified as having a history of focal neurological disorders, and 9 of them had carotid bruit. All were analyzed by means of noninvasive tests and angiography. Five underwent carotid endarterectomy prior to (2 patients) and simultaneously with (3 patients) a coronary bypass procedure. Seven patients developed neurological deficits postoperatively. Most of the deficits were not lateralized or focal but diffuse, which suggests global cerebral ischemia not related to carotid disease. Only 1 patient had proven carotid obstructive disease and underwent successful carotid thrombendarterectomy 10 days postoperatively. This study, although based on limited material, supports the hypothesis that patients with asymptomatic carotid bruit can safely undergo coronary artery surgery. In the group of patients without neurological symptomatology, postoperative neurological deficits were rarely caused by occlusive carotid disease. However, patients with asymptomatic carotid bruit should be closely followed with the goal of identifying those who are at risk of developing neurological deficits.

An autosomal dominant type of congenital muscular dystrophy.

A family with an autosomal dominant type of congenital muscular dystrophy (CMD) will be reported. In general, an autosomal recessive mode of inheritance is accepted for CMD. In 1980, Kalyanaraman et al reported another family with an autosomal dominant CMD with possible involvement of the central nervous system (CNS). Our report concerns a father and daughter suffering from CMD without CNS involvement. The histological findings, especially some mitochondrial abnormalities in the muscle biopsy were remarkable.