[Sensitivity and specificity of endoscopy for the detection of velocardiofacial syndrome]. / Sensibilidad y especificidad de la endoscopia para la detección del síndrome velocardiofacial.

INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, and 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. 22q11.2 deletion syndrome has been associated with medially positioned internal carotid arteries. This anomaly may be associated with posterior pharyngeal pulsations seen on endoscopy. The purpose of this paper is to study the diagnostic efficacy of the endoscopy for the detection of patients with 22q11.2 deletion syndrome, using as gold standard test the fluorescence in situ hybridization (FISH) test. MATERIAL AND METHODS: Twenty nine patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by FISH were studied. Also, 29 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent endoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners. RESULTS: Twenty five patients with VCFS demonstrated posterior pharyngeal pulsations seen on endoscopy (sensitivity of 86%). In contrast, none of the patients from the control group showed posterior pulsations (specificity of 100%). Positive predictive value was 100%, and negative predictive value was 87%. CONCLUSIONS: Endoscopy seems to be a safe and reliable procedure for evaluating patients with 22q11.2 deletion syndrome. The observations of posterior pharyngeal wall pulsations on endoscopy should alert clinicians to the diagnosis of 22q11.2 deletion, and also, can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of endoscopy in the preoperative assessment of children for palatopharyngoplasty.

Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome).

INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, conotruncal anomaly face syndrome, 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. VCFS has been associated with medially positioned internal carotid arteries. This anomaly has been associated with obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. The purpose of this paper is to study the role of videonasopharyngoscopy for the evaluation of patients with VCFS and submucous cleft palate. MATERIALS AND METHODS: Twenty patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by fluorescence in situ hybridization (FISH) were studied. Also, 20 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent videonasopharyngoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners. RESULTS: Both examiners coincided that 17 patients with VCFS demonstrated obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. In contrast, both examiners agreed that none of the patients from the control group showed posterior pharyngeal pulsations. CONCLUSIONS: Videonasopharyngoscopy seems to be a safe and reliable procedure for evaluating patients with VCFS. The observations of posterior pharyngeal wall pulsations on videonasopharyngoscopy should alert clinicians to the diagnosis of VCFS. Also, the findings of videonasopharyngoscopy can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of videonasopharyngoscopy in the preoperative assessment of children for palatopharyngoplasty.

Auditory neuropathy in Friedreich ataxia. A report of two cases.

Friedreich ataxia (FA) is a hereditary neurodegenerative disease with autosomical recessive inheritance. The purpose of this paper is to present two cases of FA with auditory neuropathy, demonstrated by Otoacoustic emissions (OAE) and brainstem auditory evoked potentials (BAEP). The patients were two adolescent girls. Both patients underwent behavioral pure-tone audiometry, BAEP, OAE, motor nerve conduction measurement, and magnetic resonance image studies. Both girls showed at least five of nine clinical criteria for FA. They also showed abnormal BAEP and normal OAE indicating auditory neuropathy. One patient showed normal thresholds on behavioral pure-tone audiometry, whereas the other patient showed a mild sensorineural hearing loss. In one case there was absence of peripheral caloric vestibular response, and electronystagmographic abnormalities compatible with cerebellar dysfunction. Cochlear function as assessed by OAE had not been reported previously in cases of FA. We conclude that auditory neuropathy should be considered in patients diagnosed as FA. Furthermore, BAEP and OAE should be included in the diagnostic routine in these patients.

Brainstem auditory evoked response in HIV-infected patients with and without AIDS.

BACKGROUND: The purpose of this paper is to determine the type and frequency of brainstem auditory evoked potential abnormalities in HIV-infected patients with and without acquired immune deficiency syndrome (AIDS). METHODS: Brainstem auditory evoked potentials were performed in 44 HIV-infected patients; 22 of these patients were asymptomatic carriers and 22 presented clinical manifestation of AIDS at the time of the study. Twenty healthy young adults were studied as controls. When brainstem auditory evoked potentials were performed, none of the HIV-infected patients had neurologic clinical findings. RESULTS: The interwave intervals I-V showed significant differences (p <0.05) between both HIV-infected groups and the control group. There were non-significant differences between the two groups including HIV-infected patients with or without clinical features of AIDS. CONCLUSIONS: It is concluded that the HIV infection may produce subclinical pathologic changes in the cochlear nerve and brainstem, which can be detected by BAEP test.