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Biomedical subjects

V M Berginer

Publications and source records attributed to V M Berginer.

At least 37 records · Page 2Linked to original sources
PubMed1988

Psychiatric disorders in patients with cerebrotendinous xanthomatosis.

Cerebrotendinous xanthomatosis is a familial recessive disorder. Patients with the disorder present with tendon xanthomas, juvenile cataracts, dementia, and pyramidal and cerebellar abnormalities but have normal plasma cholesterol. High plasma cholestanol concentrations and abnormal bile acid metabolism are specific for this disease. The authors describe four patients with cerebrotendinous xanthomatosis and prominent psychiatric symptoms. In three of these patients appropriate diagnosis and treatment were delayed for years because the presence of cerebrotendinous xanthomatosis was not recognized. Early recognition of this potentially lethal disease is important because both the psychiatric and neurological symptoms respond to treatment with chenodeoxycholic acid.

Achilles Tendon↗
PubMed1987

Brain computed tomography in morbid obesity before and after gastric restriction surgery: a prospective quantitative study.

Linear brain parameters were measured by CT in 19 patients with morbid obesity (mean weight 126.4 +/- 20.5 kg) and 20 age and sex matched normal weight subjects (mean weight 62.6 +/- 14.9 kg). Ventricular parameters were slightly smaller and cortical parameters were slightly larger in the preoperative obese than in control subjects. However, only the four cortical sulci ratio was significantly different in the two groups (P = 0.02). After gastric restriction surgery and drastic weight loss (mean postoperative weight 82.9 +/- 27.4 kg), all the ventricular and cortical parameters increased, with significant change in the frontal interhemispheric fissure ratio (P less than 0.05). Obese patients followed for 23 months after surgery had less striking changes than those followed for 6 months. Morbidly obese subjects have altered brain CT dimensions which are partly reversible after weight correction.

Adult↗
PubMed1987

Prominent somnolence and cerebellar syndrome in subclavian artery thrombosis--a case report.

A patient suffering from acute left subclavian artery thrombosis presented with an unusual syndrome of prominent somnolence, right cerebellar signs, and left upper extremity ischemia. Clinical, angiologic, and electrophysiologic studies confirmed a brain stem and reticular formation dysfunction due to vertebrobasilar ischemia. Urgent thromboembolectomy led to neurologic improvement and satisfactory revascularization of the involved upper limb.

Acute Disease↗
PubMed1987

Neurologic complications after gastric restriction surgery for morbid obesity.

We report the occurrence of neurologic complications in 23 patients who underwent gastric restriction surgery for the treatment of morbid obesity. Complications occurred 3 to 20 months after surgery. All the patients had had protracted vomiting for the first 3 months after the operation. The following syndromes were found: chronic or subacute symmetric polyneuropathy (12 patients), acute severe polyneuropathy (1 patient), burning feet syndrome (2 patients), meralgia paresthetica (3 patients), myotonic syndrome (1 patient), posterolateral myelopathy (2 patients), and Wernicke-Korsakoff encephalopathy (2 patients). The patients suffering from burning feet syndrome and those with Wernicke-Korsakoff encephalopathy showed a clear improvement after parenteral thiamine treatment. As to the rest of the patients, the occurrence of the complications seems to be linked to nutritional causes, although no such deficiencies were detected.

Adult↗
PubMed1984

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid.

We studied the effect of chenodeoxycholic acid in 17 patients with cerebrotendinous xanthomatosis. Before treatment, all subjects were symptomatic, with Achilles tendon xanthomas (in 15 of 17), cataracts (in 12 of 17), dementia (in 13 of 17), pyramidal-tract signs (in all 17), cerebellar dysfunction (in 13 of 17), mild peripheral neuropathy (in 7 of 17), electroencephalographic abnormalities (in 10 of 13), and abnormal cerebral computerized axial tomographic scans (in 10 of 12). After at least one year of chenodeoxycholic acid treatment (750 mg per day), dementia cleared in 10 subjects, and pyramidal and cerebellar signs disappeared in 5 and improved in another 8. Peripheral neuropathy was no longer detected in six. The electroencephalogram became normal in five and showed fewer abnormalities in another three subjects. Cerebral computerized axial tomographic scans improved in seven patients; the changes included the disappearance of a cerebellar xanthoma in one case. Concomitantly, mean plasma cholestanol levels declined threefold, and abnormal bile acid synthesis was suppressed. We conclude that long-term therapy with chenodeoxycholic acid may correct the biochemical abnormalities and arrest and possibly reverse the progression of cerebrotendinous xanthomatosis.

Adolescent↗
PubMed1983

Klinefelter's and Takayasu's syndromes in one patient--a pure coincidence?

The patient is a classical case of Klinefelter's syndrome and has, in addition, pulseless disease. In angiography, the involvement of the subclavian arteries and its main branches, consistent with Takayasu's arteritis type 1, was demonstrated. It is a pure coincidence that the patient with a 47 XXY karyotype also has an illness that affects mostly women?

Aortic Arch Syndromes↗
PubMed1981

Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin.

We described 6 patients (from 3 families) affected with cerebrotendinous xanthomatosis (CTX). All are Sephardic Jews of Moroccan extraction. In view of the small number of CTX patients diagnosed in the world (a total of 50 including our 6 patients), we are probably dealing with an ethnic subgroup with a high CTX gene frequency, which we have estimated to be 1/108. Since there are differences in expression in this disease, we recommend cholestanol study in cases of undiagnosed cataract or tendinous xanthomas in childhood or early adolescence. The diagnosis in CTX is important not only for genetic counseling, but also in veiw of possible treatment.

Adolescent↗
PubMed1981

Lysosomal abnormalities in cultured schwann cells from a patient with peripheral neuropathy and continuous muscle fiber activity.

Schwann cell cultures were established from a sural nerve containing large membrane-bound vacuoles in its Schwann cells, obtained from a patient with neuropathy and continuous muscle fiber activity. Cultured Schwann cells contained many large membrane-bound vacuoles, presumably lysosomes, resembling those present in the biopsied nerve. The acid phosphatase reaction was excessive in the patient's cultured Schwann cells but practically negative in normal cultured Schwann cells. This study indicates that the patient's neuropathy is primary dysschwannian with abnormal lysosomes as a major abnormality.

Acid Phosphatase↗
PubMed1981

Computed tomography in cerebrotendinous xanthomatosis.

In nine patients with cerebrotendinous xanthomatosis (CTX), computed tomography (CT) demonstrated diffuse white matter hypodensity above and below the tentorium. This was attributed to sterol infiltration with secondary demyelination. In one patient, a focal right cerebellar hypodense lesion reflected a true xanthoma. These findings suggest that the neurologic symptoms, no matter how longstanding, result from metabolic encephalopathy rather than irreversible destruction of brain tissue by xanthomas.

Adolescent↗
PubMed1979

Peripheral neuropathy in cerebrotendinous xanthomatosis.

Four patients with cerebrotendinous xanthomatosis (CTX) underwent electrophysiologic investigations, which demonstrated impairment in the functioning of the peripheral nerves in all four cases. The changes consisted of slow motor and sensory conduction. The changes were most marked in the older subjects, in whom the disease was more advanced, and who also had clinical manifestations of mild peripheral neuropathy. We conclude that the peripheral nerves are damaged in CTX.

Adolescent↗