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Biomedical subjects

J Ell

Publications and source records attributed to J Ell.

8 recordsLinked to original sources
PubMed1999

Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases.

OBJECTIVES: To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV. METHODS: Four patients with basilar impression were ascertained in a population study of osteogenesis imperfecta. All four had detailed clinical and neuroradiological examination with both CT and MRI of the craniocervical junction and posterior fossa structures. RESULTS: All four showed significant compression of the posterior fossa structures and surgical decompression was performed with relief of symptoms. CONCLUSION: Symptoms of cough headache and trigeminal neuralgia occurring in patients with osteogenesis imperfecta are indications for detailed clinical and neuroradiological investigation to document basilar impression.

Adolescent↗
PubMed1996

The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.

We described a profoundly intellectually disabled 24-year-old man with Wolf-Hirschhorn syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. The patient had a small ventricular septal defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings. In this patient, the del(4)(p15) was subtle and arose due to the inheritance of a recombinant chromosome (4) from a maternal pericentric inversion-46,XX,inv(4) (p15.32q35). Fluorescence in situ hybridisation with probe D4S96 confirmed the deletion. This is the second case of Wolf-Hirschhorn syndrome resulting from a large pericentric inversion of chromosome 4.

Abnormalities, Multiple↗
PubMed1992

Dizziness--organic or functional?

The author discusses a specific case to illustrate the problem of chronic, uncompensated asymmetrical vestibular function, which can present with seemingly bizarre symptoms. Simple guidelines to distinguish between organic and functional dizziness are offered.

Diagnosis, Differential↗
PubMed1990

Lymphomatoid granulomatosis presenting as sudden blindness.

Lymphomatoid granulomatosis is an uncommon clinical problem and even more rarely presents to the ophthalmologist. A case is described in which a 60-year-old Fijian woman presented with sudden, sequential, complete visual loss in association with signs of scleritis. Direct eyewall biopsy and nasal mucosal biopsy confirmed the diagnosis of lymphomatoid granulomatosis. Despite intensive high-dose oral prednisone therapy her vision remained at no light perception and she developed recrudescence of disease necessitating the use of radiotherapy. All systemic investigations failed to show any other organ involvement by the disease process and she remains well. This is the first report of lymphomatoid granulomatosis presenting as sudden blindness.

Biopsy↗
PubMed1984

Neuro-otological abnormalities in Friedreich's ataxia.

Ten patients with an accepted diagnosis of Friedreich's ataxia have been examined neuro-otologically, and oculomotor, vestibular and auditory function assessed. Brainstem auditory evoked potentials (BAEPs) were also recorded. A high incidence of various eye movement disorders was noted. Some of these were indicative of cerebellar dysfunction. Reduced vestibular function and impaired hearing were common to most of the patients. BAEPs were also abnormal in the majority; reasons underlying these abnormalities are discussed. Neuro-otologically, the patients did not constitute an homogeneous group. The findings cast doubt upon the accuracy and validity of the currently accepted criteria for the diagnosis and classification of the spinocerebellar degenerations.

Adolescent↗
PubMed1983

The effects of the "vestibular sedative" drug, Flunarizine upon the vestibular and oculomotor systems.

The effects of the "vestibular sedative" drug Flunarizine upon the oculomotor functions of pursuit and voluntary saccades and upon the vestibular response (to rotational stimuli) were assessed in twenty volunteer subjects. The study was then extended to three patients with chronic imbalance of central origin who had reported a beneficial symptomatic response to the drug. Three of the volunteer subjects were found to have a directional preponderance (presumed to arise from peripheral dysfunction). In the remaining seventeen normal subjects Flunarizine was found to reduce the amplitudes of fast phases of vestibular nystagmus. The directional preponderance in the other three subjects was redressed through production of fast phases which were of lower and more uniform amplitude. In the patients, in addition to a reduction in fast phase amplitude, there was a reduction or abolition of after nystagmus. In no case was any reduction in slow phase velocity observed. Pursuit and voluntary saccades were unaffected by the drug. It was concluded, on the basis that the fast phases of nystagmus are centrally generated, that Flunarizine has a central action rather than a depressant effect upon the vestibular end organ. In view of known oculomotor physiology and pharmacology it is proposed that vestibular sedatives act by depression of Type II vestibular neurons, and modification of the functional relationships between the vestibular nuclei, the perihypoglossal nuclei and the flocculus of the cerebellum. A trial of vestibular active drug is indicated particularly in patients in whom asymmetry of the vestibular response and/or abnormal after nystagmus is demonstrated.

Adult↗