Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 19-year-old male with group A xeroderma pigmentosum who presented life-threatening vocal cord paralysis. At 3 months of age, he became sensitive to sunlight, and at the age of 4 years he was diagnosed with group A xeroderma pigmentosum. The neurologic symptoms progressed slowly thereafter. From the age of 18 years, he reported the development of occasional episodic inspiratory stridor and dyspnea, but the cause remained unknown. At the age of 19, he had a common cold and became severely dyspneic and cyanotic. Immediate examination of the glottis upon arrival by an otorhinolaryngologist using a fibroscope indicated complete paralysis of both vocal cords, and tracheal intubation resulted in marked improvement of respiration. Tracheostomy was performed thereafter. Inspiratory stridor and dyspnea are the common symptoms in this disease, and some patients with group A xeroderma pigmentosum undergo a tracheostomy, but the pathogenesis remains unknown. To our knowledge, vocal cord paralysis has never been reported in patients with group A xeroderma pigmentosum. This case is presented to illustrate the importance of fibroscopy in the examination of vocal cords in patients with group A xeroderma pigmentosum before the development of life-threatening events.
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PMID:Life-threatening vocal cord paralysis in a patient with group A xeroderma pigmentosum. 1503 9

We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases. This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications.
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PMID:Laryngeal dystonia in xeroderma pigmentosum. 1592 64

This article deals with the neurological basis of brainstem-related symptoms in disabled children. Synaptic interactions of respiratory and swallowing centers, which are briefly reviewed in this study, highlight the significance of the nucleus of solitary tract (NTS) in the stereotyped motor events. Coordination mechanisms between these two central pattern generators are also studied with a focus on the inhibitory action of decrementing expiratory neurons that terminate the inspiratory activity and become activated during swallowing. Dorsal brainstem lesions in hypoxic-ischemic encephalopathy (HIE) affect the area including NTS, and result in symptoms of apneusis, facial nerve paresis, dysphagia, gastroesophageal reflux, and laryngeal stridor. Leigh syndrome patients with similar distributions of medullary lesions show increased sighs, post-sigh apnea, hiccups, and vomiting in addition to the symptoms of HIE, suggesting pathologically augmented vagal reflex pathways. The present article also discusses the pathophysiology of laryngeal dystonia in xeroderma pigmentosum group A, self-mutilation in Lesch-Nyhan syndrome, and sudden unexpected death in Fukuyama congenital muscular dystrophy. Close observation and logical assessment of brainstem dysfunction symptoms should be encouraged in order to achieve better understanding and management of these symptoms in disabled children.
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PMID:Reflections on the brainstem dysfunction in neurologically disabled children. 1932 67

Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with XPA being administered low-dose levodopa (0.3-1.5 mg/kg/day) for laryngeal dystonia. Patients were aged from 13 to 18 years, exhibited paroxysmal choking and inspiratory stridor, and were diagnosed with laryngeal dystonia. Two XPA patients responded to low-dose levodopa, and paroxysmal choking and involuntary movements resolved, although one of the two patients showed incomplete resolution due to suspected vocal cord paralysis. The other patient was unable to tolerate the medication because of a transient decrease of muscle tone in the extremities. We previously reported a decreased immunostaining of dopaminergic (DA) terminals in the basal ganglia of XPA patients, which may be involved in laryngeal dystonia. Low-dose levodopa has been reported to alleviate DA receptor supersensitivity in tic patients, while laryngeal dystonia occurs in patients with tardive dyskinesia caused by DA receptor supersensitivity. Thus, low-dose levodopa may improve laryngeal dystonia by alleviating DA receptor supersensitivity in XPA patients. We recommend that low-dose levodopa be used for treatment of paroxysmal respiratory disturbances and/or involuntary movements in XPA patients.
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PMID:Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. 1981 90