Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Two female patients of German origin, aged 38 and 21 years, with myoclonus epilepsy and cerebellar ataxia, but without dysmorphic signs and dementia, were found to excrete normal amounts of sialyl oligosaccharides in their urine. The younger patient showed cherry red spots in her ocular fundi. The older patient had a brother with an autopsy-proven neuronal storage disease compatible with sialidosis, and in her rectal biopsy lamellar inclusion bodies were detected. Enzyme assays in cultured fibroblasts of both patients revealed a profound but incomplete deficiency of oligosaccharide sialidase activity and normal beta-galactosidase activity. Adult sialidosis was diagnosed in both patients. In their fibroblasts, moderate elevations of bound sialic acid could also be measured. The small residual sialidase activity, which in the older patient had a normal KM value, is considered responsible for the late onset and slow clinical course of the disease. It is concluded that in adult sialidosis the extraneural storage process can be difficult to demonstrate in terms of metabolite accumulation or excretion during the course of intraneuronal storage.

[Cluster headache and chronic paroxysmal hemicrania--effectiveness of oxygen inhalation]. / Cluster-Kopfschmerz und chronisch paroxysmale Hemikranie--Wirksamkeit der Sauerstoffatmung.

Ten patients suffering from cluster headache or variants of cluster headache were made to inhale oxygen in an attempt to check these attacks. This treatment proved a success with six patients with classic ("episodic") cluster headache, as well as with another patient suffering from secondary chronic cluster headache. One patient with primary chronic cluster headache and another with chronic paroxysmal hemicrania (PCH) experienced only temporary relief and a female patient with PHC showed no reaction to oxygen inhalation. The patient who suffered from secondary chronic cluster headache has had no further attacks in the four years following this treatment.

[Pressure headache (cough headache)--definition and comments on etiology]. / Der Presskopfschmerz ("Hustenkopfschmerz")--Begriffsbestimmung und Uberlegung zur Atiologie.

Seven case histories serve to introduce and illustrate the term press headache. This term applies to all manifestations of headache released or caused by abdominal muscle pressure (defaecation, cough, sneeze, laughter etc.). This type of headache is thus marked of the collective term "exertional headache", commonly used in American literature, and is than differentiated from "exertional headache" proper ("effort migraine") on the one hand and coital headache on the other. Obviously, males predominate among those who suffer from press headache, the average age being 53-55 years. Blockage of the foramen magnum is discussed as a possible cause, in some cases perhaps influenced by hereditary tonsillar ectopia (Arnold Chiari I).

[Progressive supranuclear ophthalmoplegia--a clinical entity?]. / Die progressive supranukleäre Ophthalmoplegie--Eine klinische Einheit?

The syndrome of progressive supranuclear ophthalmoplegia (Richardson-Steele-Olszewski-Syndrom) and its relation to other syndromes are discussed on the basis of a number of case histories and a survey of the pertinent literature. The validity of vertical ophthalmoplegia as a pathognomonic symptom is questioned. The main symptoms are as follows: the heightened tone of the neck muscles, as a rule combined with other indications of parkinsonism and an inclination to fall down. To varying degress there are also bulbar signs and subcortical dementia. Neuropathologically the syndrome can be classed with the "multiple system degeneration" group, on which little enough is known. It remains an open question whether the syndrom of Richardson-Steele-Olszewski is a syndrome of its own or whether it is just a variety of parkinsonism.

[Episodes of amnesia following whiplash injury to the cervical spine]. / Amnestische Episode nach Schleudertrauma der Halswirbelsäule.

A so-called conscious post-traumatic twilight state ("besonnener Dämmerzustand") after a whiplash injury is described here, showing up its similarities with a classic post-traumatic conscious twilight state on the one hand and a classic transient global amnesia on the other hand. The term "conscious twilight state" is analysed and found inappropriate for the state it is meant to describe, and hence the term "post-traumatic transient global amnesia" is proposed instead. A post-traumatic transient global amnesia after whiplash injury is considered to be caused by a concussion.

[Pain in the knee as a first symptom of retroperitoneal space-occupying processes (author's transl)]. / Der Knieschmerz als Erstsymptom bei retroperitonealen Raumforderungen.

Knee complaints may be the first symptom of retroperitoneal space-occupying processes, as a result of compression of the femoral or obturator nerve. This differential diagnostic possibility is pointed out with reference to four case histories. The importance of CT examination as a part of the diagnostic procedure is emphasised.

Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature.

Observations on two patients from unrelated families are reported. Both patients were 32 years old and suffered from a congenital affection of the skeletal muscles. In one (case 2) congenital paresis of the dilator muscle of pupil and cardiomyopathy were also present. In both cases muscle biopsy showed pathologic variations of muscle fiber caliber, and in case 1 atrophic fibers were grouped in some places. Inclusions consisting of dense granular and fine filamentous components were found in skeletal muscle fibers, in about a third of the fibers in case 1 and in about a tenth of the fibers in case 2. The shape and submicroscopic structure of these inclusions were consistent with so-called cytoplasmic bodies. Surrounding or apart from the inclusions, the streaming of Z disks or their disintegration were observed. In addition, pure filamentous bodies occurred in the subsarcolemmic position in both cases. Although cytoplasmic bodies are a nonspecific type of inclusion, they were the outstanding structural anomaly in both cases. A basic defect of myofilament biosynthesis is considered to be the cause of the disorder. It is presumably evoked by a neurogenic factor affecting the trophic influence of the neuron on the muscle cell. The course of the disease may (case 1) but need not (case 2) terminate in severe impairment of skeletal muscle function.