Congenital generalized lipodystrophy associated with multiple sclerosis

We report the case of a 22 year old woman with congenital generalized lipodystrophy who presented a left brachiocrural pyramidal hemisyndrome, bilateral cerebellar signs and a left cranial nerve VI deficit. The clinical pattern had a tendency to regress. MRI brainscan, CSF examination and clinical features led to the diagnosis of probable demyelinating syndrome. Published data on CNS involvement in patients with congenital generalized lipodystrophy are few and we have found no cases in which a demyelinating syndrome is associated. In the case we report it is tempting to see the disorder of the lipid metabolism underlying the congenital generalized lipodystrophy as underlying the myelin disorder as well.

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Sommario Descriviamo il caso di una paziente di 22 anni, affetta da Lipodistrofia Congenita Generalizzata, che ha presentato una sintomatologia caratterizzata da emisindrome piramidale brachiocrurale sinistra, segni cerebellari bilaterali e deficit del VI nervo cranico di sinistra. Il quadro clinico ha avuto una tendenza alla regressione. La RMN encefalo, l'esame del liquor e la clinica hanno fatto porre diagnosi di probabile sindrome demielinizzante. I dati della letteratura relativi al coinvolgimento del SNC in pazienti con Lipodistrofia Congenita Generalizzata sono scarsi ed in particolare non abbiamo rilevato casi di associazione con sindrome demielinizzante. Nel caso descritto è suggestivo che la turba del metabolismo lipidico alla base della Lipodistrofia Congenita Generalizzata possa essere in rapporto all'interessamento della mielina.

     

DSM-III mental disorders in general medical sector: a follow-up and incidence study over a two-year period

Summary In three general medical settings (general practice, hospital medical wards and emergency rooms) about 20% of the adult attenders had a DSM-III mental disorder, mainly in the area of affective and anxious disorders. Some of these disorders were quite severe. Of those cases reassessed 1 year and 2 years after the first interview, less than a quarter reached a no-diagnosis status. The chronicity of most cases dependent on the interplay not only of either relapse or duration of the main disorder but also of comorbidity and incidence of new disorders. A high incidence of more transient disorders in subjects who were well at first assessment was also found.     

Selective arterial embolization in the treatment of aneurysmal bone cyst and angioma of bone

Nineteen aneurysmal bone cysts and five angiomas of bone were treated by selective arterial embolization. The median follow-up was 22 months. In 17 patients healing occurred with complete relief of symptoms; in 11 of these almost complete ossification of the lesion resulted. In the remaining cases, little or no ossification was apparent but ossification may take 1 year or more to occur. No recurrence was observed in any of these cases. Recurrence occurred only in two cases. In one, growth of the recurrence stopped after a second embolization, and the X-rays showed no change. Selective arterial embolization represents a treatment of choice in aneurysmal bone cyst and angioma of bone especially of the spine, sacrum, or pelvis. In these sites embolization replaces surgery which might be hazardous due to intraoperative bleeding.Supported in part with Rizzoli Research Funds     

The role of spontaneous portosystemic shunts in the course of orthotopic liver transplantation

Spontaneous portosystemic shunts are commonly found in cirrhotic patients. Not yet established is their role after orthotopic liver transplantation (OLTx), especially when an increase in portal pressure develops, as during early acute rejection. In this study, 34 cirrhotic patients in a series of 70 OLTx are considered. Each patient had preoperative angiographic assessment, and, in 21 (62%), large spontaneous portosystemic shunts were evident. In 12 cases the shunts were not affected by the surgical procedure and were present during the postoperative period; in 9 the hepatectomy itself involved interruption of the shunts. The patient population was divided into two groups: patients with postoperative shunts (n=12) and those without (n=22). The two groups were similar in age, sex, Child's stage, transplantation variables, and number and grade of rejection episodes. However, mean transaminases (AST) values in the first 2 weeks were significantly higher levels in shunt versus nonshunt patients (421±335 vs 183±126; P<0.025), and this was even more evident when rejection occurred (626±375 vs 195±129; P<0.001). Furthermore, during an acute rejection reaction, three cases showed a true steal phenomenon through the large reopened shunts with ischemic damage to the grafts. The data indicate a possible detrimental effect of the spontaneous shunts on graft perfusion and suggest the prophylactic surgical interruption of the residual shunts during the transplantation.     

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

Summary Three families are described which include members with typical Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families B and C one member has typical FD, and another has a similar ataxic syndrome, except for preservation of knee jerks. Laboratory evaluation is consistent with the diagnosis of FD in all cases. FD diagnosis appears justified in secondary cases with late onset or preserved tendon reflexes, provided that the index case fulfils all diagnostic criteria. Whether the diagnosis of FD is tenable in sporadic atypical cases remains to be seen. Echocardiographic and neurophysiological examination may be valuable in classifying such cases.     

Personality disorders related to schizophrenia]

Personality disorders related to schizophrenia were described since Kraepelin's works. According to the DMS III-R those disorders are gathered into the A cluster of personality disorders consisting in: schizotypal, schizoid and paranoid personality disorders. Schizotypal and paranoid personalities are biologically linked to schizophrenia and support the concept of "schizophrenia spectrum". Until now such a link is not found between schizoid personality and schizophrenia. Future research in the field of those personality disorders will bring a better knowledge in the pathogenesis of schizophrenia.     

Is venous cavernous insufficiency the only cause of organic impotence?

Organic causes for impotence are rarely detected because of the inadequate investigation of the patients. The assessment of impotence must include clinical examination (principally interview) and complementary investigations. The clinical history is strongly suggestive of an organic cause. Organic investigation must be proposed to these patients when they are motivated and occasionally in obviously "psychological" patients in order to reassure him that all of the organic factors "function correctly". The complementary investigations are as follows: hormonal survey (testosterone, prolactin), nocturnal penile plethysmography, penile arterial Doppler, EMG of the bulbocavernosus muscles and the papaverine test (30 mg or 60 mg). When the papaverine test is abnormal, cavernometry should be proposed. In conclusion, supportive sex therapy is often essential and a penile prosthesis should only be proposed as a last resort, when treatments adapted to the cause have failed.     

Toxicokinetics of soman: species variation and stereospecificity in elimination pathways

Blood levels of the four stereoisomers of the nerve agent C(+/-)P(+/-)-soman were analyzed gas chromatographically in anaesthetized, artificially respirated and atropinized rats, guinea pigs and marmosets at intravenous doses of C(+/-)P(+/-)-soman corresponding with 1-6 LD50. The relatively nontoxic C(+/-)P(+/-)-isomers disappear within a few minutes from the blood stream of all three species, whereas the levels of the highly toxic C(+/-)P(-)-isomers remain toxicologically relevant for periods of 50-100 min in three species of doses of 2-3 LD50. Elimination pathways were quantified using 14C-labeled soman stereoisomers. Whereas the C(+/-)P(+)-isomers are largely eliminated by way of enzymatic hydrolysis, the major elimination pathway for the C(+/-)P(-)-isomers is binding to various proteins, in competition with binding to target acetylcholinesterase. Intraspecies nonlinearity with dose in the toxicokinetics of the C(+/-)P(-)-isomers is related to heterogeneous reactivity of the binding sites. Interspecies nonlinearity is probably due to decreasing amounts of binding sites in the order rats greater than guinea pigs greater than primates, leading to increasing "toxico-availability" in the reversed order.     

Giant aneurysm of the calloso-marginal artery

A giant aneurysm of the right callosomarginal artery is reported in a 3-month-old child. This location is rare: including our case reported here, only three cases have been described. Clinicoradiological findings are presented and the surgical procedure is illustrated.     

Oestradiol enhances the vulnerability threshold for schizophrenia in women by an early effect on dopaminergic neurotransmission

In a representative sample of 392 first hospital admissions for schizophrenia from a population of 1.5 million we assessed the "true" age of onset by a semi-standardized interview "IRAOS". We demonstrated that the mean age at onset of the disease is 3-4 years higher in females than in males, with the lifetime risk being exactly equal. In males, the rates of onset show a steep increase - starting from school age and reaching their maximum value in the age group 15-24 years - followed by a steady decrease. Females reach the first peak with a clear delay between 20 and 29 years. After the decrease, a second smaller peak is observed consistently in females within the age group 45-49 years and over. After having excluded competing explanations, we hypothesized that the effect of oestradiol on the dopaminergic system enhances the vulnerability threshold, which is lowered again during the menopause. Alternatively, we assumed that testosterone reduces the vulnerability threshold and thus furthers the earlier onset of the disease in males. We tested the hypotheses in three animal models by examining the effect of gonadal hormones on haloperidol-induced catalepsy and on apomorphine-induced stereotypies in both neonatal and adult rats. No clear influence by testosterone was shown. Oestradiol caused a significant reduction of both dopamine-agonist and dopamine-antagonist induced behaviour. The effects were stronger in neonatal rats. Since oestradiol caused the dopamine (DA) receptor affinity for sulpiride to be reduced by a factor of 2.8, we assumed that the behavioural changes due to oestradiol were accounted for by a down-regulation of DA receptor sensitivity.(ABSTRACT TRUNCATED AT 250 WORDS)