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Biomedical subjects

T Lerman-Sagie

Publications and source records attributed to T Lerman-Sagie.

At least 37 records · Page 2Linked to original sources
PubMed2001

Inborn errors of metabolism: a cause of abnormal brain development.

Brain malformations are caused by a disruption in the sequence of normal development by various environmental or genetic factors. By modifying the intrauterine milieu, inborn errors of metabolism may cause brain dysgenesis. However, this association is typically described in single case reports. The authors review the relationship between brain dysgenesis and specific inborn errors of metabolism. Peroxisomal disorders and fatty acid oxidation defects can produce migration defects. Pyruvate dehydrogenase deficiency, nonketotic hyperglycinemia, and maternal phenylketonuria preferentially cause a dysgenetic corpus callosum. Abnormal metabolism of folic acid causes neural tube defects, whereas defects in cholesterol metabolism may produce holoprosencephaly. Various mechanisms have been proposed to explain abnormal brain development in inborn errors of metabolism: production of a toxic or energy-deficient intrauterine milieu, modification of the content and function of membranes, or disturbance of the normal expression of intrauterine genes responsible for morphogenesis. The recognition of a metabolic disorder as the cause of the brain malformation has implications for both the care of the patient and for genetic counseling to prevent recurrence in subsequent pregnancies.

Brain↗
PubMed2001

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.

Amino Acid Sequence↗
PubMed2001

The fetal cerebellar vermis: normal development as shown by transvaginal ultrasound.

OBJECTIVE: To determine the normal appearance and development of the fetal cerebellar vermis using mid-sagittal planes obtained by transvaginal sonography. SUBJECTS AND METHODS: A total of 101 fetuses were evaluated by transvaginal sonography between 21 and 39 weeks of gestation. The mid-sagittal antero-posterior and cranio-caudal vermian diameters, circumference and surface area were measured and calculated. Nomograms were produced. RESULTS: The vermis was observed in 96% of the cases and all the measurements were performed in 92%. The vermis grows in a linear fashion throughout pregnancy. The growth pattern correlates well with gestational age, biparietal diameter, head circumference and transverse cerebellar diameter. CONCLUSION: Transvaginal sonography is a valuable tool in the study of the fetal vermis during the second half of pregnancy. Knowledge of its normal appearance may help identify developmental anomalies and enable accurate prenatal counseling.

Cerebellum↗
PubMed2001

Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.

Idebenone, a synthetic analogue of coenzyme Q10, has been shown to improve cardiac function in patients with Friedreich ataxia and a deficiency of respiratory chain complexes I-III. We describe a woman with severe combined right and left heart failure due to a mitochondrial cardiomyopathy. The patient underwent an endomyocardial biopsy as part of an evaluation for cardiac transplantation. It showed severely decreased respiratory complex activities dependent on CoQ, pointing to CoQ depletion. Following idebenone treatment there was a dramatic improvement in her clinical status with resolution of the heart failure.

Adult↗
PubMed2001

Absence seizures aggravated by valproic acid.

PURPOSE: To report on pediatric patients with absence epilepsy who experienced absence seizure aggravation while receiving valproic acid (VPA). METHODS: The charts of all children from four pediatric epilepsy clinics receiving VPA for absence epilepsy were reviewed. Patients were evaluated and followed up between 1994 and 2000. RESULTS: Eight cases (six boys) of absence seizure aggravation were detected. Mean age at seizure onset was 5.8 years (range, 3-12 years). Six patients had simple absence seizures, one had myoclonic absences, and one had absences with automatisms. The electroencephalogram in all cases depicted generalized 3-Hz spike-and-wave activities. All eight patients experienced an increase in the frequency of absence seizures within days of VPA introduction. Dose increments resulted in further seizure aggravation. Serum levels of VPA were within therapeutic range in all patients. No case was attributed to VPA-induced encephalopathy. All patients improved on VPA discontinuation. In five children, VPA was reintroduced, resulting in further seizure aggravation. CONCLUSIONS: VPA can occasionally provoke absence seizure aggravation in patients with absence epilepsy.

Acute Disease↗
PubMed2001

Behavioral phenotypes of genetic syndromes: a reference guide for psychiatrists.

OBJECTIVE: To review the literature on behavioral phenotypes of genetic syndromes, displaying the data as a reference guide for everyday practice. METHOD: A computerized search was performed for articles published in the past 10 years, and selected papers were surveyed. RESULTS: The behavioral phenotypes of 11 major genetic syndromes were reviewed including the following topics: genetic etiology, genetic counseling, physical features, medical problems, cognitive and behavioral profile, and psychopathology. The speculated correlation between the identified gene and the pathophysiology of the cognitive and behavioral features is discussed. CONCLUSIONS: Updated knowledge of behavioral phenotypes will help psychiatrists identify these conditions, refer the patient and his/her family for genetic diagnosis and counseling, make specific treatment recommendations, and contribute to research and syndrome delineation.

Child↗
PubMed2001

Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome?

We describe the association of recurrent complicated febrile convulsions, developmental delay, ataxia, and obesity in three unrelated girls. The three girls, aged 3 to 4 years, were all born to healthy, nonconsanguineous parents and have normal siblings. Their birth weight was appropriate for gestational age. They are not dysmorphic and have normal head circumference. Development is delayed; they all walked with an ataxic gait after the age of 2 years and started speaking at 3 years. Their growth charts are remarkably alike: they initially had a normal growth curve and around 24 months of age started to gain weight excessively. They all continue to suffer from complicated febrile seizures, which started before 12 months of age, and are resistant to prophylactic anticonvulsants. Metabolic evaluation is normal. They have normal magnetic resonance images and electroencephalograms. Fragile X and Prader-Willi syndromes were ruled out. We suggest that this is a new mental retardation syndrome that should be considered in children with recurrent febrile convulsions, developmental delay, and obesity. In a recent study, mutations in the beta4 calcium channel were identified in the mutant epileptic mouse that presents with epilepsy, mental retardation, and ataxia. We hypothesize that a calcium channel gene may be involved in this syndrome.

Child, Preschool↗
PubMed2001

Benign intracranial hypertension associated with budesonide treatment in children with Crohn's disease.

Oral budesonide in adult studies is a potent corticosteroid with decreased systemic bioavailability and an improved adverse effect profile in comparison with prednisone. It has recently been introduced for the treatment of inflammatory bowel disease in Europe, Canada, and Israel. Benign intracranial hypertension has rarely been associated with corticosteroid therapy but has not been reported in association with budesonide therapy. Three adolescents with Crohn's disease and poor nutritional status developed benign intracranial hypertension while receiving oral budesonide. All three patients had previously received multiple courses of prednisone during the course of their disease, without developing intracranial hypertension. Benign intracranial hypertension resolved after medication withdrawal and did not recur with subsequent use of prednisone. Evaluation for benign intracranial hypertension should be considered in patients with inflammatory bowel disease who develop headache while receiving oral budesonide. This side effect may be associated with poor nutritional status.

Adolescent↗
PubMed2001

Carnitine-deficient myopathy as a presentation of tyrosinemia type I.

Carnitine deficiency secondary to renal Fanconi's tubulopathy has been described in only a few inborn errors of metabolism: cystinosis, galactosemia, and Fanconi-Bieckel syndrome. We report a 27-month-old infant who presented with a sudden change in gait owing to proximal muscle weakness. The laboratory evaluation showed carnitine deficiency associated with Fanconi's tubulopathy. Eventually, tyrosinemia type I was diagnosed. Carnitine deficiency can contribute to the clinical picture of hepatorenal tyrosinemia and should therefore be evaluated and treated.

Carnitine↗
PubMed2000

The subarachnoid space: normal fetal development as demonstrated by transvaginal ultrasound.

Enlargement of the subarachnoid spaces can be seen in the following conditions: communicating hydrocephalus, brain atrophy and benign enlargement of the subarachnoid spaces. These disorders may begin in utero. There are no established normograms for the fetal subarachnoid spaces. This study was conducted in order to determine its normal development. Transvaginal sonography was used to examine the subarachnoid space in 80 fetuses between 16 and 40 weeks' gestation. The sinocortical width (SCW) and craniocortical width (CCW) were measured in a coronal plane at the level of the foramen of Monro. The SCW remained relatively constant during the gestational period. The CCW increased in size from the 20th to the 28th week of pregnancy, with a subsequent gradual decrease until term. Determination of fetal subarachnoid space normograms may potentially help in the diagnosis of pathological conditions affecting this space and allow prenatal counselling.

Adult↗
PubMed2000

Neurologic presentations of mitochondrial disorders.

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation.

Brain Diseases, Metabolic, Inborn↗
PubMed2000

Acute pediatric rhabdomyolysis.

Rhabdomyolysis is a relatively common condition that may occur intermittently in chronic and inflammatory myopathy, muscular dystrophy, and metabolic myopathy. Rhabdomyolysis can also present acutely in otherwise healthy individuals. The list of etiologies for acute muscle cell lysis is enormous, with new causes described yearly. Series on acute pediatric rhabdomyolysis have not yet been published. This article describes a retrospective review of children admitted to the authors' institution during an 8-year period in whom rhabdomyolysis was recognized as a complication during their hospital stay. Patients with intermittent or relapsing rhabdomyolysis were excluded. Nineteen children were identified. Trauma (five cases), nonketotic hyperosmolar coma (two cases), viral myositis (two cases), dystonia (two cases), and malignant hyperthermia-related conditions (two cases) were the most common causes of rhabdomyolysis. Acute renal failure was the most frequent complication, occurring in 42% of cases. The mean age of renal failure patients was 13.9 years, compared to 8 years for non-renal failure children. Careful assessment of the initial urinalysis would have suggested a diagnosis of rhabdomyolysis in 9 of 16 patients tested.

Acute Disease↗
PubMed2000

Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.

Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial DNA analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial DNA analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.

Adolescent↗
PubMed2000

Common peroneal neuropathy due to surfing.

Common peroneal neuropathy is uncommon in children and adolescents. In this population, it is usually caused by direct nerve injury at the fibular head level. Most commonly, the nerve is damaged during sports-related blunt trauma. Other etiologies such as hereditary neuropathies and bone tumors are much less frequent. In some cases, repetitive microtrauma to the peroneal nerve is felt to cause neuropathy. We describe the case of a teenager who developed common peroneal neuropathy in association with prolonged wave-surfing in the presence of weight loss.

Adolescent↗