A case of multiple sclerosis with an onset mimicking the Kleine-Levin syndrome

A 20 years old patient is described, who presented two episodes of day-time hypersomnia, orthostatic hypotension and psychotic behavior. Compulsive masturbation and abnormalities of the eating habits were also present. Both episodes cleared up spontaneously in about one week. From the clinical point of view a Kleine-Levin syndrome, was suspected. However a CSF examination showed IgG oligoclonal bands and an increased IgG index. A NMR showed multiple area of increased signal intensity, suggestive of a demyelinating disease. On these elements a final diagnosis of MS was made, in spite of a normal neurological examination. This case was compared to other cases of MS in which the disease begins with acute remitting psychiatric symptoms. However cases of MS with complex episodes as observed in our patient were not found in the Literature.

---

Sommario Viene descritto il caso di un paziente di 20 anni che presentava 2 episodi caratterizzati da ipersonnia diurna, ipotensione ortostatica e sintomi psicotici. Erano anche presenti masturbazione compulsiva e anomalie dell’alimentazione. Ambedue gli episodi si risolvevano spontaneamente in circa una settimana. Gli aspetti clinici degli episodi erano suggestivi di una sindrome di Kleine-Levin. Tuttavia l’esame del LCS dimostrava la presenza di bande oligoclonali IgG e un aumento dell’IgG index. Una Risonanza Magnetica Nucleare dimostrava aree multiple di segnale aumentato, suggestive di un processo demielinizzante. Sulla base di tali dati veniva posta diagnosi di SM, malgrado l’esame neurologico fosse completamente normale. Tale caso viene discusso in relazione ad altri casi di SM in cui la malattia iniziava con episodi psichici acuti remittenti. Dall’esame della letteratura, tuttavia, non venivano riscontrati casi caratterizzati da episodi complessi, simili a quello descritto.

     

The syndrome of multiple ankyloses and facial anomalies

Summary An infant with the clinical syndrome of multiple joint ankyloses and facial anomalies was examined at autopsy. Neuropathologic analysis disclosed reduced numbers of spinal motor neurons and denervation atrophy of skeletal muscle as the basis for joint ankyloses. A comparison of the neuropathologic findings in this case to those of other clinically similar cases reported recently confirms that this phenotype is not specific, and occurs in a variety of neuro-muscular diseases only some of which are likely to be inherited as an autosomal recessive trait. Diagnostic evaluation of these disorders should include both chromosomal analysis and confirmation of the underlying pathologic process.Supported in part by USPHS Grant HD 04147, HD 10910, HD 09689, and 1 RO1 NS12005-02, National Institutes of Health, Bethesda, and a grant from the National Foundation/March of Dimes     

Guillain-Barré syndrome and disturbance in multiple organs associated with cytomegalovirus infection

We presented a case of Guillain-Barré syndrome (GBS) associated with pneumonitis, liver, pancreatic and renal dysfunction, and encephalopathy, who showed an increase in anti-cytomegalovirus (CMV) antibody titer of the serum and cerebrospinal fluid (CSF). A 41-year-old male admitted to our hospital with complaints of gait disturbance and muscle weakness in the extremities. The symptoms appeared following common cold, and developed gradually. Neurological examination showed mild mental symptoms, bilateral abducens, facial and bulbar palsy. Muscle weakness was shown on the neck and four extremities. Bilateral hand tremor, glove and stocking type sensory disturbance, and dysautonomia were also presented. Examination of the CSF revealed albumin-cytologic dissociation, and the anti-CMV antibody titer of the serum and CSF increased significantly. The titer of anti-CMV IgG antibody was 1:6400 in the serum, and was 1:80 in the CSF. Immunological examination showed no immunodeficiency. The conduction velocity of the peripheral motor and sensory nerves was decreased. The coefficient variation (CV%) of the R-R interval was also decreased. P1 and P2 latency and central conduction time for a somatosensory evoked potential (SEP) were also elongated, and paroxysmal abnormality was present on electroencephalogram (EEG). Two days after admission, pneumonitis appeared, leading to respiratory insufficiency. He needed respirator because of bulbar and respiratory disturbance. The chest roentgenogram revealed a consolidation-like shadow in the right upper lung filed. Two weeks after admission, liver, pancreatic and renal dysfunction was noted by biochemical examination of the blood, urinalysis, and abdominal echography. Since 10 days after the onset of GBS, 70 mg/day prednisolone was administered.(ABSTRACT TRUNCATED AT 250 WORDS)     

The hypothalamic lesion of the multiple endocrine adenoma syndrome

Summary The post-mortem findings in a typical example of the syndrome of multiple endocrine tumours is described. The hypothalamus showed recent vascular lesions, possibly the result of the disease process. In addition, there were a series of degenerative lesions characterised by gliosis, loss of neurones and dense accumulation of basophilic bodies and corpora amylacea. The basophilic bodies were occasionally intracytoplasmic. If these degenerative lesions prove to be a constant finding in this syndrome, they may be the original cause through consequent disordered hypothalamic activity of the dysfunction of the pituitary and of the target organs. The gastric hypersecretion might well be another manifestation of this hypothalamopituitary dysfunction.

---

Zusammenfassung Die Autopsiebefunde eines typischen Falles von multiplen endokrinen Adenomen wird beschrieben. Der Hypothalamus bot frische vasculäre Läsionen, möglicherweise als Folgen des Erkrankungsprozesses. Daneben fand sich eine Reihe von degenerativen Läsionen, gekennzeichnet durch Gliose, Neuronenverlust und dichte Anhäufung von basophilen Körperchen und von Corpora amylacea. Die basophilen Körperchen waren gelegentlich intracytoplasmatisch. Wenn sich diese degenerativen Läsionen als konstante Befunde bei diesem Syndrom erweisen, könnten sie durch eine dauernde Störung der Hypothalamustätigkeit die Ursache der Dysfunktion der Hypophyse und ihrer Erfolgsorgane darstellen. Die Magensafthypersekretion könnte eine andere Manifestation dieser hypothalamisch-hypophysären Dysfunktion sein.

---

---

With 6 Figures in the Text (1 colored)     

A case of brainstem encephalitis with CT scan abnormality mimicking Fisher syndrome

A 7-year-old boy with brainstem encephalitis is described. He was drowsy in the acute phase. CSF showed pleocytosis without elevated protein. EEG showed diffuse slow wave activity during wakefulness. CT scan disclosed a low density abnormality in the basal ganglia area, which disappeared as the patient recovered. The clinical signs, CT scan abnormality and EEG findings suggest that this case is not a variant of the Guillain-Barré syndrome but is brainstem encephalitis mimicking Fisher syndrome.     

A case of recurrent Miller Fisher syndrome mimicking botulism

Abstract Miller Fisher syndrome (MFS) is a rare and usually monophasic polyradiculoneuropathy characterised by ophthalmoplegia, decreased or absent tendon reflexes, and ataxia. The objective of this study was to report a case of recurrent MFS with a clinical presentation virtually indistinguishable from botulism. The patient was a young man with two episodes of increasing external ophthalmoplegia, ptosis, and ataxia with a long asymptomatic interval in between. The second episode occurred after consumption of rotten fish and was accompanied by gastrointestinal symptoms and an anticholinergic syndrome. Very rarely, MFS can present with a recurrent course. The importance of this case of recurrent MFS lies not only in its long asymptomatic period and identical clinical presentation, but also in its instructiveness regarding the differential diagnosis of MFS, particularly life-threatening botulism.     

High-dose phenobarbital therapy is effective for the control of intractable tonic seizure with apnea in a case of multiple anomalies syndrome

An 11-month-old boy with multiple surface anomalies and respiratory distress due to upper airway narrowing developed generalized tonic seizures coinciding with apnea. The ictal electroencephalography showed an abrupt onset of right-sided unilateral rapid activity with increasing amplitude followed by bursts of spike and wave complexes. The seizures were completely controlled with non-intravenous high-dose phenobarbital therapy. The serum level of phenobarbital at seizure control was 8 microg/ml. The serum level of phenobarbital peaked as high as 123 microg/ml; the patient developed neither liver function abnormality nor hypotension which necessitated any pressor agents. Although the patient was intubated, spontaneous respiration was intact after seizure control. Extubation, however, failed twice because of diminished cough reflex. After decrease of the phenobarbital dose and the development of drug tolerance, the patient was successfully weaned from respiratory support. High-dose phenobarbital therapy is effective for refractory epilepsy in patients complicated by respiratory distress. Although it was reported that respiratory depression was not severe with high-dose phenobarbital therapy, respiratory status may worsen in such patients due to the diminished cough reflex. Therefore the careful and prolonged management is essential.     

Sarcoidosis,galactorrhea, and amenorrhea: 2 Autopsy cases, 1 with chiari-frommel syndrome

Two women with amenorrhea and galactorrhea, 1 with Chiari-Frommel syndrome, died of cerebral sarcoidosis. At autopsy in both cases, sarcoid granulomas were numerous in the hypothalamus, but the pituitary appeared normal and did not contain increased prolactin as determined by immunoperoxidase technique. These are the first autopsy reports of sarcoidosis with galactorrhea and of Chiari-Frommel syndrome in the absence of pituitary adenoma.