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T Lerman-Sagie

Publications and source records attributed to T Lerman-Sagie.

At least 73 records · Page 4Linked to original sources
PubMed1997

[Carnitine deficiency in inborn errors of metabolism].

Several conditions, considered as inborn errors of metabolism, involve severe deficiencies in carnitine in both plasma and muscle. In the absence of evidence suggesting primary carnitine deficiency due to a biosynthetic enzymatic defect in the liver, the various diseases with carnitine deficiency are related to genetic defects in organic acid metabolism leading to blocked mitochondrial beta oxidation. We describe a 4.5-year-old boy and 2 female infants with glutaric aciduria type I, isovaleric acidemia, and long-chain acid dehydrogenase deficiency, in whom severe carnitine deficiency was apparent. In all 3, long-term carnitine treatment proved to be vital and eliminated most of the symptoms.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed1997

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Glycogen storage disease type 1a (von Gierke disease, GSD 1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The recent cloning of the G6Pase cDNA and characterization of the human G6Pase gene enabled the characterization of the mutations causing GSD 1a. This, in turn, allows the introduction of a noninvasive DNA-based diagnosis that provides reliable carrier testing and prenatal diagnosis. In this study, we report the biochemical and clinical characteristics as well as mutational analyses of 12 Israeli GSD 1a patients of different families, who represent most GSD 1a patients in Israel. The mutations, G6Pase activity, and glycogen content of 7 of these patients were reported previously. The biochemical data and clinical findings of all patients were similar and compatible with those described in other reports. All 9 Jewish patients, as well as one Muslim Arab patient, presented the R83C mutation. Two Muslim Arab patients had the V166G mutation which was not found in other patients' populations. The V166G mutation, which was introduced into the G6Pase cDNA by site-directed mutagenesis following transient expression in COS-1 cells, was shown to cause complete inactivation of the G6Pase. The characterization of all GSD 1a mutations in the Israeli population lends itself to carrier testing in these families as well as to prenatal diagnosis, which was carried out in 2 families. Since all Ashkenzai Jewish patients harbor the same mutation, our study suggests that DNA-based diagnosis may be used as an initial diagnostic step in Ashkenazi Jews suspected of having GSD 1a, thereby avoiding liver biopsy.

Arabs↗
PubMed1997

Heterogeneity in adducted thumbs sequence.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

Abnormalities, Multiple↗
PubMed1996

Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.

Primary lateral sclerosis and hereditary spastic paraparesis are both rare neurodegenerative disorders characterized by progressive weakness and spasticity of the lower limbs, with involvement of the corticospinal tracts and sparing of anterior horn cells. We describe a consanguineous family in which three sons developed progressive paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles but cognitive sparing. This family presents the nosologic difficulty of distinguishing between hereditary spastic paraparesis and primary lateral sclerosis. We suggest that the diagnosis in this family is hereditary primary lateral sclerosis. This is the first instance of familial occurrence of primary lateral sclerosis.

Adolescent↗
PubMed1996

[Bilateral operculum syndrome].

The bilateral operculum syndrome, is a unique developmental syndrome. It is characterized by spastic paralysis of the muscles of the face, pharynx, and of mastication, as well as by epilepsy and mental retardation. Imaging studies show bilateral, structural abnormalities in the frontal, perisylvian region consistent with polymicrogyria. These children are usually diagnosed as suffering from cerebral palsy, but in the bilateral operculum syndrome, intelligence is relatively preserved despite the severe motor involvement. Misdiagnosis may lead to improper estimation of rehabilitation potential preventing appropriate therapy, especially in the field of alternative communication. We present a 3-year-old boy, apparently the first case of this syndrome to be described in Israel.

Brain↗
PubMed1995

[Joubert syndrome].

Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls. Since dysmorphic signs are not prominent in this syndrome, diagnosis is often delayed. To the best of our knowledge, Joubert syndrome has not been previously described in Israel. We present a family with 3 siblings with this syndrome. Increased awareness will lead to earlier diagnosis, proper developmental treatment, and accurate genetic counseling.

Abnormalities, Multiple↗
PubMed1995

[Epidemiology of developmental disorders in children in Tel Aviv].

We assessed the prevalence of developmental disorders, the need for intervention, potential for rehabilitation, and also characterized the risk factors, from files of 1,944 children referred during 1981-1990. The study group consisted of 4.3% of the children born in Tel Aviv during this period. Referral was highest between the ages 3-4 years and the causes for referral were language, speech and communication disorders (38%), global developmental delay (20%), motor disorders (16%), and behavioral and emotional problems (15%). Developmental disorders were more prevalent in boys (M/F ratio 1.8:1). 84% had at least 1 risk factor, either pre/perinatal, social or genetic. 66% had a social risk factor requiring involvement of a community social worker, or a parent with a chronic disease. The principal genetic risk factors were a developmental problem in a sibling, and parental consanguinity. The most common perinatal risk factors were birth weight under 2500 grams, hyperbilirubinemia of the newborn and severe asphyxia. Prognosis was good: 83% had normal intelligence and only 10% had severe disability. Upon discharge from the development center at the age of 5 years only 18% required special schooling, but 63% were referred for continuation of rehabilitation services. This study provides multi-disciplinary information that allows planning of requirements for diagnostic, therapeutic and rehabilitation services in the human, logistic and economic fields.

Child↗
PubMed1995

Behr syndrome.

Explore the source record for details and available documents.

Amino Acid Metabolism, Inborn Errors↗
PubMed1995

Cerebrospinal fluid zinc concentrations in febrile convulsions.

Zinc modulates the activity of glutamic acid decarboxylase, the rate limiting enzyme in the synthesis of gamma-aminobutyric acid (GABA), which is a major inhibitory neurotransmitter. Low cerebrospinal fluid GABA values have been reported in association with several seizure disorders, including febrile convulsions. It is also known that fever and/or infections may cause a reduction in serum zinc concentrations. In this study the hypothesis that febrile convulsions are related to low cerebrospinal fluid zinc was tested. Cerebrospinal fluid zinc concentrations were measured in 66 febrile children: 32 with febrile convulsions, 18 with fever but without convulsions, and 16 with aseptic (viral) meningitis. There was no statistically significant difference in the cerebrospinal fluid zinc between the three groups of children, and the mean concentration was 26.2 micrograms/l. No significant relationship was found between either age, gender, maximal temperature, type of infection, or time of performance of the lumbar puncture and cerebrospinal fluid zinc concentration. These results do not support the hypothesis that febrile convulsions are related to reduced cerebrospinal fluid zinc concentrations.

Age Factors↗
PubMed1994

A prospective evaluation of pediatric patients with syncope.

Fifty-eight children with syncope were evaluated prospectively to determine the characteristics of syncope in the pediatric age group and the yield of various diagnostic tests. The age at first syncope ranged from 0.5 to 15 years. Twenty-five children presented after a single episode and 33 after multiple episodes. Ten had a history of breath-holding spells. Nineteen had a family history of syncope. A diagnosis was established in 53 patients (91%): vasodepressor (31), cardioinhibitory (13), tussive (3), hyperventilation (2), and mixed syncope (4). In five patients (9%), the cause remained unknown. The diagnosis was established from the history in 45 cases, by a positive oculocardiac reflex in 11, and by the head-up tilt test in four. We conclude that the cause of most cases of pediatric syncope is vasodepressor or cardioinhibitory and can be diagnosed by good history-taking. Costly evaluations are rarely necessary.

Adolescent↗
PubMed1991

Head-up tilt for the evaluation of syncope of unknown origin in children.

Fifteen patients aged 10 to 18 years with syncope of unknown origin, and 10 healthy control children aged 11 to 18 years, were evaluated by head-up tilt to 60 degrees for 60 minutes. Six patients (43%) reproduced symptoms of syncope during the examination. Four had a typical vasovagal reaction; two had marked hyperventilation. None of the children in the control group had syncope. The head-up tilt test offers a simple, noninvasive, high-yielding diagnostic tool for evaluation of syncope in children.

Adolescent↗
PubMed1991

Effect of early corticosteroid therapy for Landau-Kleffner syndrome.

Four children treated for seizures between 1980 and 1986 were diagnosed as having Landau-Kleffner syndrome (acquired aphasia with convulsive disorder), following the onset of aphasia. They received early and prolonged ACTH or corticosteroid therapy, with high initial doses. In all four cases the EEG promptly became normal, with subsequent long-lasting remission of the aphasia and improvement of seizure control. Three to six years after discontinuation of hormone therapy the children are off medication and free from seizures and language disability.

Adrenal Cortex Hormones↗
PubMed1990

New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism.

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.

Abnormalities, Multiple↗
PubMed1990

Pulmonary interstitial emphysema in low birth weight infants: characteristics of survivors.

Twenty out of 303 ventilated low birth weight infants, hospitalized in the Beilinson Medical Center's Intensive Care Unit, during the years 1984-1986, developed pulmonary interstitial emphysema. Eighteen infants had very low birth weight (less than 1500 grams) and 17 were less than 30 weeks' gestation. The mean birth weight was 987 +/- 311 and mean gestational age 27.7 +/- 2.5. Eight infants survived the pulmonary disease. There were no significant differences in the neonatal parameters between infants who died or survived. However, the survivors had a significantly lower maximal peak inspiratory pressure and FiO2 on the first day of ventilation. The incidence of pneumothorax and asphyxia was the same in both groups.

Humans↗