A case of juvenile metachromatic leukodystrophy--the third case in Japan

We report here a case of juvenile metachromatic leukodystrophy. The patient is an 8-year-old boy with motor and mental deterioration, which began at about age 3. He has also suffered from astatic seizures since age 8. Arylsulfatase A activity in the patient was markedly decreased in peripheral leukocytes, cultured fibroblasts and urine. Sulfatide was detected in urine from the patient by thin-layer chromatography. Peripheral motor and sensory nerve conduction velocities were markedly reduced. Computerized tomography of the brain showed low density areas in the periventricular white matter which were not enhanced by intravenous contrast material. His parents' arylsulfatase A activities were about half those of normal controls. This is the third case of juvenile metachromatic leukodystrophy in Japan.     

Alexander's disease: a case report of a biopsy proven case

A case of infantile onset Alexander's disease in a two and a half year old male child is presented, who had progressively increasing macrencephaly since birth. A frontal lobe biopsy revealed collections of Rosenthal fibres in the subpial and perivascular areas with diffuse dysmyelination and presence of reactive astrocytes. The Rosenthal fibres were immunoreactive for glial fibrillary acidic protein and ubiquitin. Electron microscopic examination showed the Rosenthal fibres as intra-astrocytic and extracellular granular osmiphilic collections.     

An autopsy case with cerebral histoplasmoma: case report]

Histoplasma capsulatum infection is, for the most part, asymptomatic or of little clinical consequence. Disseminated infection due to H. capsulatum is rather uncommon. Clinically apparent infection of central nervous system (CNS) is rare, and involves in 10 to 50% of patients with disseminated histoplasmosis. Although CNS histoplasmosis is frequently fetal or only discovered as an autopsy, some patients can be effectively treated with anti-fungal agents. We describe a 44-year-old civil man who is engineering contractor with headache without evidence of systemic infection. Magnetic resonance imaging showed enhancing masses in the third and forth ventricles, right interpeduncular cistern, and right cerebello-pontine angle. After biopsy of what was presumed to be a malignant lymphoma, the patient died of rapidly progressive multiple cerebral infarctions. The autopsy revealed the CNS histoplasmoma disseminating systemically. And we finally diagnosed him as histoplasmoma by gene analysis. It was extremely difficult to make a diagnosis based on his physical and radiological findings because it should be included in the differential diagnosis of a well or ring enhanced lesion. It is very important to ask patients about their birthplace, past illness, occupation, and where they had traveled. In the present case, the patient working for the construction has visited many countries including the African Continent and Central America. Clinicians should maintain a high index of suspicion in patients who are from any area endemic for histoplasmosis. The clinical, radiological and pathological features of this infection were reviewed in this report.     

Fulminant course in a case of diffuse myelinoclastic encephalitis-- a case report

We report on a 10-year old previously healthy boy who exhibited a fulminant and nearly monophasic clinical course of demyelinating encephalitis with relapsing intracranial hypertension syndrome. Histologic examination of a diagnostic brain biopsy revealed an inflammatory demyelinating process with perivascular T lymphocytic infiltration and axonal damage reminiscent of multiple sclerosis-like lesions. In the brain, the DNA of human Herpes virus 6 (HHV6) was detectable. Eleven months after the initial symptoms and on maintainance with oral steroids, MRI showed demyelination of both hemispheres as well as demyelination of the brain stem and Wallerian degeneration. The boy exhibited a severe neurologic defect syndrome. The clinical and radiological course is unusual because of the asymmetric progression of the encephalitis and the extensive confluent lesions without demarcated border or enhancement of the rim after injection of gadolinium. The clinical course showed no definite steroid response. The pathogenetic relevance of HHV6 remains elusive. Although single patients with HHV6-associated encephalomyelitis have been reported, HHV6 DNA is occasionally detected in brains of healthy individuals.     

A case of senile chorea

Senile chorea, a late-onset, slowly progressive disorder without mental changes, is a poorly characterized entity. It is often thought to represent late-onset Huntington's disease in which the chorea precedes the mental changes and the family history is absent due to parental death before symptoms. The following case differs pathologically from Huntington's disease and from previous reports of senile chorea.     

A case of medullomyoblastoma

Summary A case of cerebellar tumour is described in a 6 year old boy. It consists of two distinct areas, one consisting of tumour similar to medulloblastoma and the other of mesenchymal appearance in which cross striated muscle fibres are seen. Tumours of this type seem to form a small but separate entity, for which it is recommended that the name medullomyoblastoma be retained.

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Zusammenfassung Es wird die Kleinhirngeschwulst eines sechsjährigen Knaben beschrieben, in welcher zwei Anteile — ein Medulloblastom-ähnlicher und ein mesenchymaler (in welchem quergestreifte Muskelfasern vorhanden sind) — unterschieden werden.Geschwülste dieser Art scheinen eine kleine, aber einheitliche Gruppe zu bilden, für welche wir die Bezeichnung Medulloblastom vorschlagen.

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With 3 Figures in the Text

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This work was initiated by ProfessorBlackwood, to whom we are grateful. In possession of a grant from the Dutch Organisatie voor Z.W.O..     

A case of musicogenic epilepsy

1) A case of musicogenic epilepsy or psychomotor seizures supervening whenever the patient hears a certain tume has been presented. 2) The EEG features of the seizure are such as are often seen in psychomotor seizures. 3) Auditory evoked response may be left out of consideration. 4) There is no appreciable relationship between the disease and the life history of the patient. The attempt of our patient to cure herself by making use of conditioned reflex proved to be a failure. The patient is more liable to the disease when she is on the strain while hearing a tune. 5) Our consideration of the mechanism of the disease has led to the presumptive conclusion that hyperacusis, conditioned reflexes and the impact of life history may be involved, and the fragility of the memory function of the temporal lobe underlie the genesis of the disease.     

A case of female transsexualism

Summary A case of transsexualism in a female before and after surgical treatment is presented, including history, examination and results of psychological testing. A brief review of the literature is given and salient features are discussed.From the Department of Psychiatry, Institute of Psychiatry, The Mount Sinai School of Medicine of the City University of New York, this paper was submitted to theQuarterly on December 26, 1969.     

An unusual case of stroke

New imaging techniques have allowed for the rapid and accurate diagnosis of stroke. In this case, we present a 58-year-old woman with multiple large vessel strokes on magnetic resonance imaging. The initial diagnostic workup centered on a rapidly progressive central nervous system vasculitis. Subsequent workup revealed an unusual infectious etiology--cryptococcal meningitis. Although fungal infections can cause vasculitis, this is the first report of a patient with multiple anterior and posterior circulation strokes secondary to Cryptococcus. The diagnosis in cases presenting with encepalopathy and without fever is often delayed.     

Usefulness of ultrasonography in a case of spontaneous carotid-cavernous fistula: a case report]

Since spontaneous carotid-cavernous fistula (CCF) is a dural arterio-venous fistula at the cavernous sinus, which is different from traumatic CCF and CCF associated with a ruptured aneurysm at the cavernous internal carotid artery, cerebral angiography is required in order to differentiate these condition. We here report a case of spontaneous CCF, in which a result of ultrasonographic evaluation of cervical arteries well corresponded with that of cerebral angiography. Ultrasonography showed increased blood flow and decreased pulsatility index in the ipsilateral external carotid artery, contralateral internal and external arteries, and these values in all arteries resolved within normal range after the interventional embolization. Ultrasonography is less invasive examination and can be easily performed even in outpatients for observation of spontaneous CCF.     

A case of bupropion-induced stuttering

Objective

Stuttering is a frequent side effect of many psychotropic drugs, particularly antidepressants.

Method

This is a case report of a woman presenting with stuttering after starting bupropion treatment for her depression.

Results

The patient's stuttering resolved after discontinuing the bupropion.

Conclusion

Neuroimaging and pharmacological studies have implicated dopamine in the pathophysiology of stuttering. Bupropion's ability to increase dopamine in the frontal cortex was suspected to have been involved in this patient's stuttering. However, further research is needed before causality can be assured.     

A case of male pseudopregnancy

The authors give an account of views concerning pseudocyesis and phantom pregnancy resp. It is a condition which is extremely rare in males. The authors describe the case-history of a 60-year-old man hospitalized at the Psychiatric Clinic of the Faculty Hospital Bratislava on account of phantom pregnancy. They discuss the possible nosological classification of the presented case. In the conclusion they submit the view that phantom pregnancy can be included among monosymptomatic psychoses (e.g. as tactile hallucinosis).     

A case of Walker-Warburg syndrome

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.     

An autopsy case of hemimegalencephaly

This case report is a neuropathological study of a ten-month-old infant with unilateral megalencephaly . In this anomaly neuronal migration defect and disturbances of cortical organization resulting in micropolygyria were the most striking neuropathological feature.     

A case of brief psychotherapy

The six-month psychotherapeutic treatment of a 29-year-old woman with a hysterical personality is described. Criteria for selection of patients suitable for brief psychotherapy and the various applications of this technique are discussed. Aspects of the psychopathology of the hysterical personality are described and related to that of the patient presented, whose sexualized transference exemplifies the important task of 'focusing' this form of treatment.