Biomedical subjects

E Rizkallah

Publications and source records attributed to E Rizkallah.

5 recordsLinked to original sources

PubMed2001

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed.

Adolescent↗

PubMed2000

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance.

Adolescent↗

PubMed1997

New drug therapy for acute seizure management.

Several new agents have recently become available for the long-term treatment of epilepsy. Until now, there has been little change for the acute management of seizures. Three new agents may alter our present practice. Fosphenytoin has recently been approved as a substitute for parenteral phenytoin. It provides similar efficacy without the risk for infusion site injury while allowing greater flexibility in intravenous solutions. Intravenous valproate adds flexibility for patients on valproate, allowing patients to be rapidly loaded. In addition, it will prevent patients from having to change seizure medications when intervening medical illness or surgery do not allow medications by mouth. Viscous diazepam solution for rectal administration will allow for safe and effective treatment for seizures at home and will potentially decrease emergency department services and hospitalization.

Acute Disease↗

PubMed1988

[Hyperexplexia: the startle disease].

A case of hyperexplexia is reported in a newborn. Hyperexplexia or "startle disease" is very uncommon and is of autosomal dominant transmission. Clinical features consist in particular physical features during the neonatal period and subsequently in an abnormal startle reaction; the electromyogram shows particular patterns.

Electromyography↗

PubMedDate not supplied

Neurological complications associated with Mycoplasma pneumoniae infection. A case report.

Mycoplasma pneumoniae (MP) is a frequent cause of respiratory tract infection. Extra-pulmonary manifestations may be neurological with variable expression, encephalitis being the most frequent. Meningitis, myelitis or polyradiculoneuritis are also reported. The pathophysiology of neurological manifestations remains poorly understood. Although not isolated from cerebral tissue, MP was reportedly detected in cerebro-spinal fluid (CSF) on several occasions. We report the case of a five-year-old girl who presented with fever, then pneumonia, and later developed spastic quadriparesis. MP was identified as the causative agent, evidenced by the presence of specific antibodies in both serum and CSF. The identification of a central nervous syndrome associated with confirmed MP infection extends the list of similar cases documented in individuals younger than 17 years of age.

Child, Preschool↗