Yochanan Goldhammer

The risk of developing Creutzfeldt‐Jakob disease in subjects with the PRNP gene codon 200 point mutation

We determined the penetrance of the PRNP 200Lys mutation in the large cluster of Creutzfeldt-Jakob disease (CJD) cases among Jews of Libyan-Tunisian origin living in Israel, utilizing data from 52 carriers with definite or probable CJD and 34 unaffected mutation carriers. A life table analysis was carried out with development of CJD as the end point. The probability of developing CJD rose with age, fitting a second-order regression curve (R = 0.97, p < 0.001). The cumulative penetrance reached 50% at the age of 60 and 80% at 80 years. Including seven elderly possible CJD patients in the analysis made the penetrance approach 100% by age eighty. The penetrance of the mutation is high, and although age is a predominant influencing factor, other factors, such as gender, may also play a role.

Extracranial metastases of medulloblastoma in adults: literature review.

A consecutive series of 30 cases of extracranial medulloblastoma metastases in adults is analysed. The majority of the patients were males with a 3:1 male/female ratio. Bone was the most frequent site of metastases in adults (77%) and children (78%), followed by lymph nodes (33%) in both children and adults. Lung metastases were more common in adults (17%), but liver metastases occurred more frequently in children (15%). Possible routes of spread and development of metastases are discussed, with special emphasis on the role of shunts in tumour seeding. Distant extracranial metastatic spread of medulloblastoma occurs at the rate of 7.1%. Mean interval between operation of the primary tumour and the discovery of metastases was shorter in children (20 months) than in adults (36 months). Survival after the discovery of metastases was also shorter in children (5 months) than in adults (9.5 months). Shunts were associated with an earlier appearance of metastases and with a poorer prognosis. A detailed review of the literature of 119 cases of medulloblastoma with extracranial metastases is provided.

Doxycycline and intracranial hypertension

The authors report seven patients from six neuro-ophthalmology referral centers who developed pseudo-tumor cerebri during treatment with doxycycline. All four female patients and one of three male patients were obese. Vision was minimally affected in most patients, but two had substantial visual acuity or visual field loss at presentation. Discontinuation of doxycycline, with or without additional intracranial pressure-lowering agents, yielded improvement, but permanent visual acuity or visual field loss occurred in five patients.

Subacute spongiform encephalopathy and its relation to Jakob-Creutzfeldt disease: report on six cases

An account is given of six cases of Jakob-Creutzfeldt disease confirmed at necropsy. The rapid fatal outcome within three months was typical of the variety designated subacute spongiform encephalopathy (Nevin-Jones). The characteristic EEG changes were found to be of great value in making an early diagnosis and, together with akinetic mutism and myoclonus, constituted an easily recognizable picture. Treatment with idoxyuridine was ineffective in one case in which electronmicroscopy of brain biopsy material supported the diagnosis.

An Israeli family with Gerstmann‐Straussler‐Scheinker disease manifesting the codon 102 mutation in the prion protein gene

We report the first family among the Jewish population in Israel with Gerstmann-Straussler-Scheinker disease. A proline-for-leucine substitution at the codon 102 of the prion protein (PrP) gene was demonstrated. This mutation has been reported in families with the ataxic form of the disease.

Treatment of porphyric convulsions with magnesium sulfate.

Summary: We report a 16‐year‐old girl with acute intermittent porphyria who had abdominal pain, generalized tonic‐clonic and simple partial seizures, and inappropriate antidiuretic hormone secretion. Because most antiepileptic drugs are contraindicated in porphyria, she was treated with magnesium sulfate i.v. Soon after starting treatment, seizures stopped, returned, and then again responded in several trials with discontinuation and reinstitution of i.v. magnesium sulfate. Our experience encourages the use of magnesium sulfate for treatment of seizures in patients with porphyria.

Vocal cord paralysis as a presenting sign in the Shy-Drager syndrome

A 70-year-old patient with bilateral vocal cord paralysis, accompanied by inspiratory stridor and increased snoring, is presented. Respiratory dysfunction, deteriorating over 18 months, necessitated permanent tracheostomy. Only two and a half years after the onset of symptoms the patient developed extrapyramidal signs combined with severe autonomic failure, suggesting a diagnosis of Shy-Drager syndrome. Vocal cord palsy preceding any other neurological or autonomic manifestations of that syndrome has been infrequently described. This diagnosis should be considered in cases of vocal cord palsy of undetermined etiology, especially when associated with increased snoring or episodes of sleep apnea.

Cryptophthalmos syndrome with basal encephaloceles.

A 2,144-g white girl was born with absence of the right ear and eye, cleft lip and palate, two basal encephaloceles, tricuspid atresia, ventricualr and atrial septal defects, detransposition of the great vessels, right aortic arch, and aberrant right subclavian artery. Through an oval defect in the center of the sphenoid bone, soft tissue protruded into the right nasopharynx. The medial portions of the roof of both orbits and the cribriform plate were absent and soft tissue protruded through this bony defect. Basal tomography was required to demonstrate the encephaloceles, which should be suspected in any child with a median cleft syndrome, a flat broad nasal root, and hypertelorism.

Extrapyramidal Syndrome Responsive to Dopaminergic Treatment following Recovery from Central Pontine Myelinolysis

A 52-year-old woman developed severe hyponatremia following treatment for hypertension with chlorthalidone. Rapid correction of hyponatremia resulted in coma, quadriplegia and hypopnea compatible with central pontine myelinolysis. She recovered with residual facial hypomimia, bradykinesia, cogwheel rigidity and coarse resting tremor, responding to dopaminergic treatment. Her symptoms and signs, which are quite similar to idiopathic Parkinsons disease, are still responsive to treatment 7 years after onset.

Hydrocephalic dementia in Paget disease of the skull Treatment by ventriculoatrial shunt

Severe dementia and ataxia in an elderly woman were related to hydrocephalus resulting from Paget disease of the skull, with basilar impression. Ventriculoatrial shunting resulted in dramatic improvement. This procedure, rather than suboccipital decompression, is probably the operation of choice, and should be carried out at an early stage.