Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

Tsao, Chang-Yong; Wenger, Gail D.

doi:10.1002/ajmg.a.30592

Cited by 11 publications

(12 citation statements)

References 32 publications

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“…4 Our 2 children fulfilled diagnostic criteria for nonketotic hyperglycinemia and 1 child also had Cri-du-chat syndrome as confirmed by chromosomal study. 5 Vagus nerve stimulation for treatment of medically intractable epilepsy in children has been reported in a retrospective multicenter study and Cyberonics company database. 6,7 It has been shown to reduce seizure frequency of 40% to 50% for more than 6 to 18 months in children younger than 12 years of age.…”

Section: Discussionmentioning

confidence: 99%

The Efficacy of Vagus Nerve Stimulation in Intractable Epilepsy Associated With Nonketotic Hyperglycinemia in Two Children

Tsao

2009

J Child Neurol

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Nonketotic hyperglycinemia is an inborn error of glycine metabolism and these patients frequently suffer from intractable epilepsy despite treatment with sodium benzoate, dextromethophan, and multiple anticonvulsants. We encountered 2 infants with nonketotic hyperglycinemia whose intractable generalized convulsive seizures were difficult to control with sodium benzoate, dextromethophan, and multiple anticonvulsants. However, after the addition of vagus nerve stimulation, their intractable generalized seizures were >75% reduced in frequency, the numbers of multiple anticonvulsants were reduced, and the quality of life significantly improved. The efficacy in seizure reduction persists for at least 3 years in both children.

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Section: Discussionmentioning

confidence: 99%

The Efficacy of Vagus Nerve Stimulation in Intractable Epilepsy Associated With Nonketotic Hyperglycinemia in Two Children

Tsao

2009

J Child Neurol

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“…Genetic errors such as Down's syndrome [ 56 ], trisomy 4 p [ 57 ], cri du chat syndrome [ 58 ], terminal 1p36 deletion [ 59 ] can cause IS. Changes at molecular level such as sodium channel mutations [ 60 ] have now been found.…”

Section: Etiologymentioning

confidence: 99%

Infantile spasms: review of the literature and personal experience

Fois

2010

Ital J Pediatr

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This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded.

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“…A CdCS child with an arachnoid cyst, causing triventricular hydrocephalus by obstruction of the aqueduct of Silvius, has been reported [ 38 ]. Metabolic anomalies have been described in CdCS patients: a defect in the synthesis of purine nucleotides (important neuromediators involved in brain development) [ 39 , 40 ] and clinical features associated with non-ketotic hyperglycinaemia, infantile spasms, hypsarrhythmia and brain heterotopia have been reported in a patient with a 5p deletion and typical CdCS [ 41 ].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Cri du Chat syndrome

Mainardi

2006

Orphanet J Rare Dis

182

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The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

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Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

Cited by 11 publications

References 32 publications

The Efficacy of Vagus Nerve Stimulation in Intractable Epilepsy Associated With Nonketotic Hyperglycinemia in Two Children

The Efficacy of Vagus Nerve Stimulation in Intractable Epilepsy Associated With Nonketotic Hyperglycinemia in Two Children

Infantile spasms: review of the literature and personal experience

Cri du Chat syndrome

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