Biomedical subjects

E Luda

Publications and source records attributed to E Luda.

At least 19 recordsLinked to original sources

PubMed2001

Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study.

Adrenoleukodystrophy (ALD) is a rare, X-linked inherited metabolic disease, which is associated with the accumulation of very long chain fatty acids (VLCFA) in the adrenal glands and in the central and peripheral nervous systems. ALD leads to leukoencephalic myeloneuropathy and hypoadrenalism. The two most frequent phenotypes are infantile ALD and adrenomyeloneuropathy (AMN), which account for 80% of cases. Adult-onset ALD is rare (1-3%). The cases reported so far have had a variable course and have often been characterised by prevalently psychiatric symptoms. We describe the case of a 37-year-old man affected by ALD whose symptoms first appeared a few years earlier in the form of worsening personality and memory disturbances, and were followed by the onset of spastic paraparesis and amyotrophy indicative of the concomitant presence of AMN. The neuropsychological alterations configure a picture of mainly frontal cortico-subcortical dementia, which is supported by magnetic resonance findings.

Adrenoleukodystrophy↗

PubMed2001

Autonomic dysfunction associated with multiple pelvic ganglioneuromas.

We describe the case of a 59-year-old male in which several symptoms of autonomic dysfunction resulted associated with the presence of multiple ganglioneuromas in the adrenal glands and in paravertebral spaces. In a 2-year period, the patient developed sexual dysfunctions, micturitional disturbances and severe orthostatic hypotension and was erroneously diagnosed as having primary autonomic failure. However, the examination of all the autonomic functions showed that papillary function and cardiovascular reflexes were normal. CT scan of the abdomen revealed the presence of several small masses in the adrenal glands and along the lumbar sympathetic chain. Cytologic examination of the adrenal glands showed clusters of ganglionlike cells interspersed with Schwann cells, leading to the diagnosis of ganglioneuromas. Patients with signs and symptoms of autonomic dysfunction need an extensive clinical and laboratory examination of all the autonomic functions in order to exclude secondary causes of the symptomatology.

Adrenal Gland Neoplasms↗

PubMed1995

The symptom of headache in emergency departments. The experience of a neurology emergency department.

Although the symptom of headache is a frequent cause of Emergency Department examinations, it is often considered to be of little clinical relevance in comparison with other emergencies and is usually treated only symptomatically. But how frequently does a simple headache mask a severe cerebral pathology? To answer this question, we studied a consecutive series of patients examined at the Neurology Emergency Department of Turin's Ospedale Molinette over a period of three months; the patients were then followed-up for more than two years in order to confirm the diagnoses. Of 215 cases of "acute" headache, 121 (56%) were essential and 94 (44%) symptomatic; of the latter, 18 (8.3%) were the only clinical manifestation of a severe cerebral pathology (10 hemorrhages, 2 ischemias, 6 tumours). In diagnosing these 18 cases, 72 EEG, 57 CT and 4 rachicentesis examinations were carried out and their diagnostic efficacy is here analysed. Our data show the importance of a careful evaluation of the symptom of headache in Emergency Departments and the need to send any doubtful cases to a facility specialised in coping with such emergencies.

Adult↗

PubMed1992

Retraction-convergence nystagmus: clinical and radiological study of 4 cases of vascular origin.

Retraction-convergence nystagmus is a classic finding in extensive and bilateral lesions of the dorsal midbrain, usually neoplastic and, as such, considered to signal a poor prognosis. We report 4 cases of retraction-convergence nystagmus associated with Parinaud syndrome arising from circumscribed lesions of vascular origin--3 hemorrhagic and 1 ischemic--with a completely benign course. The neuroimaging study enabled us to identify involvement of the pretectal areas and posterior commissure as well as of the dorsomedial thalamic nuclei in all cases. It thus seems that one or more of these areas must be involved in the genesis of this nystagmus.

Adult↗

PubMed1991

Sustained visual aura: a totally new variation of migraine.

An unusual case of an abnormally long-lasting (over 12 months) visual migraine aura is reported. The absence of signs of a structural lesion, as shown by neuro-imaging and clinical investigations, make difficult the differential diagnosis between a new variation and a complication of migraine.

Aged↗

PubMed1984

The EEG in progressive dialysis encephalopathy: the EEG in diagnosing and screening for PDE. (Part. I).

An EEG study was carried out on 50 patients undergoing chronic dialysis, 5 of whom had progressive dialysis encephalopathy (PDE), with the aim of confirming the reliability of EEG for diagnosing PDE and detecting patients at risk reported in previous papers. The outcome of the study confirms the high sensitivity of EEG for these purposes.

Aged↗

PubMed1984

The EEG in progressive dialysis encephalopathy. The EEG and clinical indices of PDE in cases treated with desferrioxamine. (Part. II).

Two patients with progressive dialysis encephalopathy (PDE) were subjected to serial EEG recording and neuropsychological tests in order to assess the value of the investigations as indices of the course of PDE during desferrioxamine treatment. EEG proved unreliable for this purpose.

Aluminum↗

PubMed1983