Fascial Tc-99m MDP uptake in eosinophilic fasciitis as demonstrated by SPECT.

BACKGROUND: The presence of bone-seeking radiopharmaceutical uptake in extraskeletal tissues of the lower or upper extremities may indirectly reflect the presence of active inflammatory lesions in patients in whom systemic disease is suspected. MATERIALS AND METHODS: The authors present the case of a 26-year-old woman who had mixed signs of scleroderma and cosinophilic fasciitis, in whom misleading findings on planar bone scintigraphy suggested diffuse muscular tracer uptake in the lower extremities. RESULTS: However, using additional SPECT imaging of the pelvis and thighs, it was shown that the soft tissue radioactivity was clearly restricted to the fascia overlying the muscles. The fascial localization of the inflammation was confirmed by biopsy. CONCLUSION: SPECT imaging was proven useful in indicating the exact localization of an active inflammatory process in the muscle fascia.

Dynamic training of skeletal muscle ventricles. A method to increase muscular power for cardiac assistance.

BACKGROUND: Skeletal muscle can be used for cardiac assistance after electrical stimulation over a period of several weeks. This will adapt it to do chronic work with no resulting fatigue. The result of this procedure, however, is a reduction of 80% in muscle power, > 60% in muscle mass, and approximately 85% in contractile speed. To minimize these disadvantages, the following study was done to develop and test a method to dynamically train skeletal muscle ventricles (SMVs). METHODS AND RESULTS: Barrel-shaped SMVs were tested in 15 Jersey calves. They were made from the latissimus dorsi muscle, which was wrapped around an elastic silicone training device. Six SMVs were used extrathoracically in a single layer and nine intrathoracically in a double layer. With dynamic training preserving contractile speed, the output increased to approximately 5 L/min, the systolic pressure increased to > 200 mm Hg, and power developed to approximately 10 W after 3 months of dynamic training. The contractile speed of dynamically trained SMVs was between 250 and 700 mm/s. The diameter of the latissimus dorsi muscle increased to three times that of the corresponding contralateral muscle. CONCLUSIONS: The combination of electrical conditioning with dynamic training of the SMVs resulted in a strong muscle pump that did not develop fatigue. Dynamic training for skeletal muscle represents a new and promising method for providing powerful autologous cardiac assist.

Osteomalacia in a patient with anorexia nervosa.

A 32-year-old patient with anorexia nervosa since adolescence was admitted because of diffuse bone pain, increasing during the 2 preceding winters. She had a special aversion to dairy products and all forms of dietary fat. Low normal serum calcium and very low calciuria were noted, with a highly elevated bone fraction of alkaline phosphatase, and severe hypovitaminosis D and B12. Apart from a recent spontaneous fracture of the clavicle, Looser lines and pseudofractures were noted in a finger, fibula and malleolus. In particular, magnetic resonance imaging of the knee showed additional evidence of a pseudofracture in the femur, and medullary changes were found. Evidence for secondary hyperparathyroidism was described. Apart from the well known occurrence of osteoporosis, our case shows that osteomalacia may exceptionally occur in anorexia nervosa.

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3.

Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopathologically confirmed EOAD pedigrees, AD/A and AD/B, with highly informative short tandem repeat (STR) polymorphisms and found complete linkage of the disease to a (CA)n dinucleotide repeat polymorphism at locus D14S43 in 14q24.3 (Zmax = 13.25 at theta = 0.0). Using additional chromosome 14 STR polymorphisms we were able to delineate the region containing the EOAD gene to an area of, at most, 8.9 centiMorgans between D14S42 and D14S53, flanking D14S43 on both sides.

Idiopathic hemiparetic parkinsonism, a syndrome distinct from idiopathic parkinsonism.

Two women had a syndrome of progressive parkinsonism with ipsilateral rigidity, mild resting tremor, paresis, hyperreflexia, and an extensor plantar response. Symptoms had started 24 and 3 months after a surgical procedure in the affected limb. Neuroimaging studies were unhelpful. Both the parkinsonian features and the pyramidal tract signs responded well to dopaminergic drug treatment. We propose that the syndrome be called "idiopathic hemiparetic parkinsonism".

Early-onset Alzheimer's disease in 2 large Belgian families.

Familial Alzheimer's disease (FAD) is a dominantly inherited condition that may present with an early onset, and myoclonus occurs frequently in the course of the disease. We report clinical and neuropathologic data on 2 large Belgian families with FAD in which we obtained 17 autopsies of the CNS. In family A, each of 11 autopsies had the typical neuropathologic features of Alzheimer's disease (AD), and there were a few cerebellar plaques in the molecular layer. In family B, in addition to the typical characteristics of AD in 6 autopsies, there were numerous amyloid plaques in the cortical cerebellar layers. In both families, we immunostained the amyloid deposits for the A4 protein, and they were negative for prion-associated protein immunoreactivity.

Non-traumatic subdural hygroma.

Subdural hygroma consists of a cerebrospinal fluid-like subdural fluid collection with a low oncotic pressure in comparison with venous blood. Its etiology and pathophysiology, which may be different from other subdural fluid collections, are reviewed. We report the clinical history of a 80-year-old woman with a bilateral frontal subdural hygroma. Serial CT-scanning demonstrated a rapid increase in volume after two years of slow evolution. In our patient dehydration may have been the triggering factor. The course of non-traumatic subdural hygroma is not well known. This report illustrates that subdural hygroma can have a dramatic evolution and that therapeutic decisions in these patients should be based on repeated CT-scans.

Monoaminergic neurotransmitters in Alzheimer's disease. An HPLC study comparing presenile familial and sporadic senile cases.

Norepinephrine, epinephrine, dopamine, serotonin and their major metabolites were measured in 20 regions of the left hemisphere in 4 presenile familial cases of Alzheimer-type dementia and 4 sporadic senile cases. Both groups were compared to values in normal brains obtained in our laboratory. Quantitative determination of the monoamines was performed by HPLC with electrochemical detection. The clinical diagnosis of Alzheimer-type dementia was confirmed by histological examination of the right hemisphere and brain stem. The serotonergic system was dramatically affected in the familial cases with very low or undetectable serotonin concentrations in most cortical and subcortical areas studied and an important cell loss in the nucleus raphe dorsalis, origin of the main ascending serotonergic system. In the senile demented patients the serotonergic deficit is less important but still clearly present. The noradrenergic, adrenergic and dopaminergic systems were less affected by the disease process in senile sporadic as well as in the presenile familial type of Alzheimer's disease.

Muscular fibrosis due to chronic intramuscular administration of narcotic analgesics.

Chronic intramuscular injections, particularly of narcotic analgesics, are an uncommon cause of myopathy. We report two patients with pentazocine- and meperidine-related myopathy. Narcotic-induced muscular fibrosis and contractures must be considered in patients with a pattern of muscle involvement that does not conform to any recognized myopathy, but allows for self-administration of injections. Trauma due to needle puncture, repetitive infections and a local myotoxic effect of the drugs probably contribute to these lesions.

Recurrent forms of sporadic brachial plexus neuropathy. A report of two cases.

Two patients presenting a relapsing form of sporadic brachial plexus neuropathy, the so-called Parsonage Turner syndrome, are reported. The diagnosis is based on clinical and electromyographic features. Recurrent attacks, although infrequently encountered, have been well described in the past. Sporadic cases of this syndrome must be differentiated from the familial varieties of neuralgic amyotrophy in which, two main subgroups of patients are distinguished: those showing facial dysmorphic features and those with findings of a tomaculous neuropathy predisposing them to pressure palsies. Apart from the obvious difference as regards familial occurrence, the familial and non-familial varieties of neuralgic amyotrophy differ in a number of respects: associated congenital defects, early age of onset and high rate of recurrence in the former. Finally some possible pathogenetic mechanisms of the syndrome are briefly reviewed.

Distribution of biogenic amines and their catabolites in brains from patients with Alzheimer's disease.

Norepinephrine, epinephrine, dopamine, serotonin and their major catabolites were measured in 17 regions of the left hemisphere of two brains obtained from two brothers with Alzheimer's disease with very early onset. The clinical diagnosis was confirmed by histological examination of the right hemispheres and brain stems. The quantitative data were compared with our values in normal brains. In the patient suffering from the less severe dementia, there was a severe reduction of the serotonin concentration in all examined neocortical areas and its concentration was even below the detection limit in the nucleus amygdalis, hippocampus, caudate nucleus, putamen, globus pallidus and substantia nigra. In the other patient, who suffered from a more pronounced dementia with myoclonus, the serotonin concentration was below the detection limit in all examined structures. In contrast with these findings, the noradrenergic, adrenergic and dopaminergic systems appeared to be relatively unaffected by the disease process. Focusing our attention on the nuclei wherein the monoamine transmitter systems originate, it appeared that neuronal losses and neurofibrillary tangles clearly predominated in the substantia grisea subependymalis, the nucleus centralis superior and the nucleus raphe dorsalis, origin of the main serotonergic system. The serotonin deficiency sheds light on possible mechanisms of myoclonus in Alzheimer's disease.

Pleocore disease. Multi-minicore disease and focal loss of cross striations.

We report clinical and morphological data on seven patients with a congenital myopathy as well as data concerning five parents. Classical myopathies such as rod disease, centronuclear myopathy or central core disease could be ruled out. Structural abnormalities of intracellular organelles or particulate inclusions were rare and insignificant. The most prominent and constant features were minicores and focal loss of cross striations, associated with a prevalence of type 1 fibres, increasing with the age at time of biopsy. A carrier state could not be defined in the five examined parents neither on clinical nor on morphological grounds. Although our group of patients could not clinically be distinguished from other congenital myopathies, the combination of the lesions allow their individualization as a subgroup of multicore or minicore disease under the already proposed denomination of pleocore disease [Martin and Busch, abstract in Zentralbl Allg Pathol 124:156 (1980)].

Periventricular metastases of a primary intracranial alpha-fetoprotein-producing germ cell tumor.

Periventricular subependymal lesions were found on CT scan in a young man with growth failure, diabetes insipidus, mental deterioration, and hypogonadism with delayed puberty. An initial very good response to radiotherapy was followed a few months later by a relapse, presenting as a very large tumor in the base of the frontal lobes. Serum alpha-fetoprotein at the time of the relapse was very elevated suggesting that the tumor was largely composed of an endodermal sinus tumor component, which was confirmed at autopsy. The purpose of this report is to stress the importance of the use of tumor markers in a particular clinical and neuroradiological setting.

Enophthalmos as a rare manifestation of metastatic orbital involvement.

Two cases in which orbital metastasis produced enophthalmos, instead of the usual exophthalmos, are reported. Only fourteen other cases have been described previously and they are reviewed. At time of diagnosis of the enophthalmos, meningeal carcinomatosis coexisted in the first case and probably also in the second case. This association can lead to diagnostic errors with either the orbital metastasis or the meningeal carcinomatosis being missed. In addition, as in our second case, the enophthalmos can be the initial manifestation of cancer.

Good response of a paraneoplastic neuromyopathy to cyclophosphamide.

The case history of a 59-year-old man with neuromyopathy and sicca syndrome, preceding the discovery of a small cell bronchial carcinoma for 16 months, is reported. This paraneoplastic neuromyopathy , resistant to steroid therapy, dramatically improved with cyclophosphamide treatment.