Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

CHARGE syndrome is a genetic disorder caused by a mutation in the CHD7 gene on chromosome 8. Major clinical diagnostic criteria for this heterogeneous disorder include ocular coloboma, choanal atresia/stenosis, characteristic external and internal ear abnormalities, and cranial nerve abnormalities. Patients with CHARGE syndrome often have dysphagia and are at high risk for aspiration of both upper and lower gastrointestinal secretions. The following case-report describes the use of Botulinum toxin A (Botox) to reduce excess salivary secretions in a ventilator dependant infant who would have required a tracheotomy. Thereafter, Botox was used regularly (4-5 months) to decrease the salivary secretions. This case-report is unique in that it describes the intermittent and prospective use of Botox to reduce excess salivary secretions and prevent the resulting aspiration-related complications in an infant with CHARGE syndrome.
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PMID:Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study. 2241 1

CHARGE syndrome is a rare and complex disorder, causing multiple birth defects and sensory deficits. The CHD7 gene was proved to be the major pathogenic gene in CHARGE syndrome. To date, the phenotype of neonatal CHARGE syndrome is still poorly recognized. In this paper, we report a Chinese neonate with typical CHARGE syndrome. During his stay in the neonatal intensive care unit of our hospital, the patient presented with various appearance abnormalities, severe dyspnea, dysphagia and recurrent infection. Integrated analysis of the clinical manifestations and examinations suggested a diagnosis of CHARGE syndrome. Later, the genetic analysis revealed a de novo null heterozygous pathogenic mutation in the patient's CHD7 gene [c.6292C>T (p.Arg2098*)]. Taken together, the patient was diagnostic confirmed as typical CHARGE syndrome. The physicians provided symptomatic treatments for the patient which significantly alleviated his condition, including infection control, laryngoplasty, nasogastric tube feeding and respiratory support. To our knowledge, this case broadens the clinical phenotypic spectrum of typical CHARGE syndrome in neonatal period due to the null mutation of CHD7 gene [c.6292C>T (p.Arg2098*)]. It also demonstrates that genetic analysis is essential in the diagnosis of CHARGE syndrome early in life. Clinicians should focus on providing supportive and corrective therapies in early treatment, particularly in controlling infection, and improving breathing and feeding.
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PMID:Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report. 3247 19