Diphtheritic neuropathy, an analysis based on muscle and nerve biopsy and repeated neurophysiological and autonomic function tests.

A patient with diphtheritic neuropathy was investigated with repeated tests of parasympathetic and sympathetic vasomotor and sudomotor functions for one year after the onset of symptoms. Somatic nerve function was tested with nerve conduction studies and an index based on ten variables was used to follow the course of the neuropathy. Sural nerve and anterior tibial muscle biopsies were performed. A severe but shortlasting impairment of the parasympathetic vagal reflex arc was found. The recovery of this function paralleled the clinical course. Sympathetic functions were normal. The neurophysiological variables of somatic nerve function showed signs of a mainly demyelinating mixed sensory/motor neuropathy. The recovery of these variables was slow. The nerve and muscle biopsies demonstrated mild changes consistent with a mixed, demyelinating, non-inflammatory neuropathy.

Gerstmann-Sträussler-Scheinker disease: autopsy study of a familial case.

Postmortem neuropathological findings in a patient with biopsy-proved familial Gerstmann-Sträussler-Scheinker disease of eight years' duration included severe spongy change in the neocortex, extensive and often large amyloid deposits throughout the cerebral hemispheres and cerebellum, and severe astrocytic gliosis throughout all areas of gray and white matter within the brain. The degree of cortical spongy change was much greater than that in relatives who died with a similar clinical history, indicating the phenotypic heterogeneity in this familial disorder.

Peripheral nerves in Fisher's syndrome.

A case is presented of a 33-year-old male with ophthalmoplegia, ataxia and areflexia followed by complete recovery. There was no clinical evidence of motor weakness or sensory disturbances in the limbs. Electromyography and nerve conduction studies were normal. Sural nerve biopsy during the sixth week of illness revealed no abnormalities.

Vasoactive intestinal polypeptide in the hyper-reflexic neuropathic bladder.

The distribution of nerves containing vasoactive intestinal polypeptide (VIP) in the hyper-reflexic neuropathic bladder was investigated using immunocytochemistry and radioimmunoassay. Biopsy specimens were taken from the bladders of 21 patients with urodynamically proven detrusor hyper-reflexia and from 20 control patients with no urodynamic abnormality. The results showed a reduction in the number of VIP immunoreactive nerves and a reduction in VIP concentration in the hyper-reflexic bladder when compared with control samples.

Progressive pontobulbar palsy with deafness: clinical and pathological study of two cases.

Among the hereditary affections of the nervous system associated with deafness, a rare condition called "progressive pontobulbar palsy with deafness" has been described. In this slowly progressive condition, hearing loss and vestibular are-flexia are almost always the first symptoms, occurring in late childhood or early adulthood. Only 18 cases-some sporadic, several familial-have been published without a full report of pathological findings. The clinical and pathological data of two new cases-one familial, one sporadic-are described here. There are differences from other forms of bulbar paralysis, lower motor neuron diseases, and some spinocerebellar hereditary affections. In view of the homochrony and homotypy in familial cases and the pathological findings, progressive pontobulbar palsy with deafness appears to be an abiotrophic process wih autosomal recessive inheritance.

[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report]. / Zur Morphologie und Diagnostik des Zellweger Syndroms. Ein Beitrag zum kombiniert cytochemisch-feinstrukturellen Nachweis der Peroxisomen in autoptischem und tiefgefrorenem Lebergewebe mit Fallbericht.

A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.

Cerebral fat embolism: a neuropathological study of a microembolic state.

Multiple cerebral petechiae associated with intravascular globules of neutral fat and localized primarily within the white matter are distinctive lesions which secure the pathologic diagnosis of cerebral fat embolism. The abundance of these lesions in an unknown, but presumably small, percentage of cases of fat embolism, along with the even more widespread distribution of embolic fat droplets throughout both white and gray matter, suggest that these lesions and emboli must have a profound effect on neurologic function. Nevertheless, respiratory insufficiency is by far a more common clinical manifestation of the fat embolism syndrome and the neurologic involvement of such patients is often attributed to the secondary effects of generalized hypoxia. The following patient with overt respiratory and neurologic symptoms re-emphasizes the direct primary effect of fat emboli within the central nervous system as a cause of white matter hemorrhages and neurologic deterioration. Explantations for the selectivity of the lesions for the cerebral white matter are explored.

Experimental autonomic neuropathy: ultrastructure and immunohistochemical study of a disorder of reflex vasomotor function.

Vasomotor function in ear vessels of rabbits was tested in animals with experimental autonomic neuropathy (EAUN), experimental allergic neuritis (EAN), and controls. Reflex vasodilatation was impaired in animals with EAUN but not in EAN or control rabbits. Ultrastructural examination of paravertebral sympathetic chain, perivascular nerves, and perivascular tissue showed similar changes in all animals differing in degree only. Occasional lymphocytes were seen in paravertebral chains of controls but large numbers of lymphocytes and macrophages occurred in EAUN and EAN. No active destruction of myelinated or unmyelinated fibers could be seen. Perivascular nerves showed similar cellular infiltrates and basophils were found in perivascular spaces of ear vessels which were most abundant in animals with EAUN. Fibre-size spectra analysis of unmyelinated fibres in the paravertebral sympathetic chain showed a shift to the left suggesting regeneration of unmyelinated axons in both EAN and EAUN. No specific immunofluorescence against neuronal components could be demonstrated in sensitized animals. It is concluded that the functional disturbance of reflex vasomotion in EAUN is not accompanied by specific ultrastructural lesions nor could neuronal components be immunologically implicated in the disorder. Regeneration of unmyelinated axons and recovery of function after some weeks together with abundance of basophils in perivascular tissue of sensitized animals, suggests that a localized inflammation may have occurred, the basophils interfacing between foreign antigens, the serum cascade systems, and other inflammatory cells. The usefulness of EAUN as a model for acute pandysautonomia in man remains to be determined.

The pathology of drop attacks: a case report.

A 65-year-old man had four drop attacks in several days and then a fixed stroke with quadriplegia. At autopsy infarction in the lower pons and upper medulla affected principally the corticospinal tracts. Tegmental destruction included reticular formation nuclei with rostral projections, but spared the lateral reticular formation nuclei, from which arise the descending reticulospinal tracts. This case is the first detailed autopsy report of a patient with drop attacks, and supports the view that at least some drop attacks are caused by transient ischemia of the corticospinal tracts.