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Biomedical subjects

T Lerman-Sagie

Publications and source records attributed to T Lerman-Sagie.

At least 55 records · Page 3Linked to original sources
PubMed2000

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.

Methylenetetrahydrofolate reductase deficiency is the most common inborn error of folate metabolism and should be suspected when homocystinuria is combined with hypomethioninemia. The main clinical findings are neurologic signs such as severe developmental delay, marked hypotonia, seizures, microcephaly, apnea, and coma. Most patients present in early life. The infantile form is severe, with rapid deterioration leading to death usually within 1 year. Treatment with betaine has been shown to be efficient in lowering homocysteine concentrations and returning methionine to normal, but the clinical response is variable. We report two brothers with methylenetetrahydrofolate reductase deficiency: the first was undiagnosed and died at 8 months of age from neurologic deterioration and apnea, while his brother, who was treated with betaine from the age of 4 months, is now 3 years old and has developmental delay.

Betaine↗
PubMed1999

Neurological involvement in a child with the wrinkly skin syndrome.

In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.

Campylobacter Infections↗
PubMed1999

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

X-linked recessive myotubular myopathy (XLMTM) is a muscle disorder usually affecting newborn males. In the majority of cases, muscle weakness and hypotonia lead to a rapid demise at neonatal age. The responsible MTM1 gene is located in proximal Xq28. Heterozygous carriers are described as being asymptomatic but, in a few cases, mild facial weakness has been reported. We report a family in which a 39-year old female showed severe progressive muscle weakness. XLMTM was initially diagnosed in the male offspring of one of the patient's sisters. The patient, one of her sisters, and their mother were heterozygous carriers for a common MTM1 gene mutation. We found an extremely skewed X-inactivation pattern in the patient and, in the opposite direction, in her non-manifesting carrier mother, thus explaining her normal phenotype and indicating a possible inheritance of skewed X-inactivation. Linkage analysis excluded a possible involvement of the XIST locus at Xq13.

Adult↗
PubMed1999

Cauda equina syndrome due to lumbosacral arachnoid cysts in children.

We describe the clinical, neuroradiological and surgical aspects of two children in whom symptoms attributable to cauda equina compression were caused by spinal arachnoid cysts. The first patient presented with recurrent urinary tract infections due to neurogenic bladder dysfunction, absent deep tendon reflexes and sensory deficit in the lower limbs. The second child presented with unstable gait as a result of weakness and diminished sensation in the lower extremities. Spinal magnetic resonance imaging revealed a lumbosacral arachnoid cyst in both patients. During surgery the cysts were identified and excised. Two years after surgery, the sensory deficits of the first patient have disappeared and patellar and ankle reflexes can be elicited, but there is no improvement in bladder function. Neurological examination of the second patient was normal. We conclude that the diagnosis of cauda equina syndrome should prompt a vigorous search for its aetiology. Lumbosacral arachnoid cysts are a rare cause of cauda equina syndrome in children.

Arachnoid Cysts↗
PubMed1999

Urinary organic acid screening in children with developmental language delay.

The prevalence of 3-methylglutaconic aciduria was evaluated among children with developmental language disorders. A urine specimen was obtained from 40 children referred for developmental language delay to the Tel-Aviv Child Development Center during 12/96-6/97 and from 50 age-matched controls. Urine organic acids were analysed by gas chromatography-mass spectrometry. Urinary 3-methylglutaconic acid was quantified. A mildly increased excretion of 3-methylglutaconic acid was found in 8 children with developmental language delay. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid was increased in 9 patients. There were no differences in the excretion of other organic acids. The patients with elevated 3-methylglutaconic acid did not differ from the other patients with developmental language disorders in any of the parameters evaluated. Mildly elevated urinary levels of 3-methylglutaconic acid may be a marker of a still undefined metabolic disorder presenting with developmental language delay. A further study in large groups of children with different developmental disorders is mandatory.

Child↗
PubMed1999

Multiple presentation of mitochondrial disorders.

The aim of this study was to assess the heterogeneous clinical presentations of children with mitochondrial disorders evaluated at a metabolic neurogenetic clinic. The charts of 36 children with highly suspected mitochondrial disorders were reviewed. Thirty one children were diagnosed as having a mitochondrial disorder, based on a suggestive clinical presentation and at least one of the accepted laboratory criteria; however, in five children with no laboratory criteria the diagnosis remained probable. All of the patients had nervous system involvement. Twenty seven patients also had dysfunction of other systems: sensory organs in 15 patients, cardiovascular system in five, gastrointestinal system in 20, urinary system in four, haematopoietic system in four, and endocrine system in nine. The clinical presentation was compatible with an established syndrome in only 15 children. Severe lactic acidosis or ragged red muscle fibres were encountered in very few patients. These results suggest that mitochondrial disorders should be evaluated in children presenting with a complex neurological picture or multisystem involvement.

Adolescent↗
PubMed1999

Cone and rod dysfunction in the NARP syndrome.

AIMS: Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). METHODS: A mother and her two children, all carrying the 8993 mtDNA mutation, were examined. Two had manifestations of the NARP syndrome. A complete ocular and systemic examination was performed on all three patients. RESULTS: The clinical examination, electroretinogram, and visual fields revealed a typical cone-rod dystrophy in the son, and a typical cone dystrophy in the daughter. The mother had no ocular manifestations of the disease. CONCLUSIONS: NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993. This study demonstrates the great variability of the ocular manifestations in the NARP syndrome. It also indicates that the retinal dystrophy in at least some NARP patients affects primarily the cones.

Adolescent↗
PubMed1999

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Adrenal Insufficiency↗
PubMed1999

Postictal psychosis in a child.

Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves the temporal lobe. Postictal psychosis, while well known in adults, has not been described previously in children. We describe a 9-year-old boy with right hemiparesis due to a neonatal stroke, who developed a postictal schizophrenia-like psychosis following status epilepticus. Electroencephalography showed left-sided slowing. A brain computed tomographic scan and magnetic resonance imaging revealed left hemisphere hypoplasia. A 99mTc-ECD single photon emission computed tomographic scan of the brain revealed decreased left-hemisphere perfusion, most pronounced to the medial temporal lobe. The psychosis resolved gradually over 7 days without antipsychotic therapy. To the best of our knowledge, this is the first description of postictal psychosis in a child.

Child↗
PubMed1999

Phenobarbital still has a role in epilepsy treatment.

Phenobarbital, the oldest of the currently available antiepileptic drugs, has lost its popularity in this era of multiple new drugs and is seldom used after infancy in developed countries. We report a group of patients with generalized epilepsy in whom phenobarbital proved to be the drug of choice. Phenobarbital monotherapy was given to 20 patients with idiopathic generalized epilepsy beginning in childhood but persisting into adulthood. All the patients have normal intelligence and neurologic status. The electroencephalogram has either been normal or showed generalized spike-wave discharges. All patients' seizures are fully controlled on once-a-day low-dose phenobarbital with no side effects. Attempts to discontinue the medication have led to recurrence of seizures. We believe that in patients with mild generalized tonic-clonic seizures phenobarbital could still be the drug of choice since it is cheap, safe, convenient, and effective.

Adolescent↗
PubMed1999

Demyelinative brainstem encephalitis responsive to intravenous immunoglobulin therapy.

We describe 2 patients with acute demyelinating brainstem encephalitis who were treated with intravenous immunoglobulin (IVIG). Both patients improved rapidly, concomitant with the course of therapy. To the best of our knowledge, these are the first reported cases of brainstem demyelinating lesions in children treated with IVIG. Our experience suggests that IVIG should be considered as first-line treatment for similar cases.

Brain Stem↗
PubMed1998

[Ketogenic diet--an alternative therapy for epilepsy in adults].

The ketogenic diet is an accepted alternative for children with intractable generalized or multi-focal seizures not amenable to surgery. It is not commonly used in adults because of the impression that the diet is less effective after childhood, when it is more difficult both to achieve ketosis and to change dietary habits. We present a 20-year-old man with intractable epilepsy since early childhood who is being treated with great success by a medium-chain triglyceride ketogenic diet. It has not only controlled the seizures but has also improved quality of life. We recommend a therapeutic trial of the ketogenic diet in intractable epilepsy for all ages.

Adult↗
PubMed1998

Lissencephaly associated with congenital hypomyelinating and axonal neuropathy.

The authors describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axonal involvement. To the best of the authors' knowledge, this is the first report involving the co-occurrence of these two developmental disorders. A viral, metabolic, or nutritional insult acting throughout the period of migration and myelination or a contiguous gene linkage are possible explanations for this disorder.

Axons↗