Biomedical subjects
L Dom
Publications and source records attributed to L Dom.
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
We report 2 families with X-linked infantile spasms syndrome (X-linked West syndrome). Data from clinical examination, biochemical analysis, neuroimaging, and neuropathology are discussed. In these families, genetic linkage analysis was able to locate the disease gene to the distal part of the short arm of the X chromosome, between Xpter and Xp11.4. This is the first report of linkage with genetic markers in this disorder. Although most cases are sporadic, further unraveling of the genetic background of the familial cases might greatly improve our understanding of infantile spasms.
Dementia paralytica in a fifteen-year-old boy.
A 15-year-old boy, whose history revealed an unremarkable pregnancy, birth and neonatal period and who had shown a normal motor and mental development, presented at the hospital with deterioration of cognitive functions since the age of 7. He was bedridden with manifest ataxia involving all limbs, anisocoria and a sluggish to absent pupil reaction to light. Syphilis serology was positive with a Venereal Disease Research Laboratory (VDRL) titer of 1:256 and a Treponema pallidum Haemagglutination Assay (TPHA) titer of 1:163840. Cerebrospinal fluid (CSF) protein concentration was 55 mg/dl and CSF-leucocyte count was 14/mm3 (85% mononuclear cells). CSF-VDRL-titer was 1:16. A diagnosis of congenitally acquired dementia paralytica was made, since the boy's parents' clinical exam and serology results were suggestive for latent syphilis. Although cognition was still very much deteriorated five months following penicillin treatment, clinical examination revealed partial recuperation. Screening for syphilis should be part of routine testing in every subject presenting with cognitive deterioration, regardless of age.
Technetium-99m hexamethylpropylene amine oxime single photon emission tomography in febrile convulsions.
We report our initial experience with technetium-99m hexamethyl propylene amine oxime (99mTC-HMPAO) brain single photon emission tomography (SPET) in the investigation of 19 children presenting with febrile convulsions. Two patients with complex febrile convulsions showed focal SPET lesions contralateral to the neurological deficit. However, in 9 out of 17 patients with simple febrile convulsions, focally disturbed perfusion was shown. In 4 out of 6 patients with electroencephalogram (EEG) abnormalities on admittance, SPET revealed at least 2 focal lesions. The temporofrontal region was the one most commonly involved. The SPET findings presented here also suggest a temporal relationship with the febrile convulsions, with markedly fewer lesions if examined after 12 days. In our initial experience, perfusion SPET did not show any particular pattern helpful in the differential diagnosis of the child presenting with febrile convulsions. Physiopathologically, our findings may support the hypothesis that brain tissue is regionally more vulnerable to fever, in patients presenting with febrile convulsions.
Single photon emission computed tomography using perfusion tracers in seizure disorders.
Single photon emission computed tomography (SPECT) using perfusion tracers makes it possible to estimate regional cerebral blood flow (rCBF) and, indirectly, local brain metabolism. It may be possible to detect and follow physiopathological alterations, such as may be seen in seizure disorders. The authors review the principles of and some data on perfusion SPECT in seizure disorders, stress advantages as well as major drawbacks and add their initial experience with Tc-99m hexamethylpropyleneamine oxime (HMPAO) SPECT in febrile convulsions.
Reflex responses induced in the human finger flexor muscles by rhythmical strch of the muscle.
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Epidural abscess causing tetraparesis: case report.
A case is presented of a 26-year-old male with a 8-day history of fever and back pain, and limb weakness beginning 24 hours before admission. An abscess caused by a staphylococcus aureus was localised in the thoracic paravertebral region with penetration in the subarachnoidal space at T1. Myelography appeared to be superior to CAT-scan and NMRI of the cervico-thoracal region in supporting the diagnosis. Treatment by laminectomy of C7-T3 48 hours after admission did not lead to neurological improvement and an incomplete tetraplegia persisted. The importance and difficulty of early diagnosis is stressed.