Marcelle Sulek

Multi‐disciplinary clinical study of Smith‐Magenis syndrome (deletion 17p11.2)

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.

Intracranial complications of acute mastoiditis

OBJECTIVE Oral antibiotic use may have changed the incidence and microbiology of otitic intracranial complications. We reviewed cases of acute mastoiditis to document: (1) incidence of intracranial complications; (2) risk factors; and (3) identify pathologic organisms. METHODS A retrospective study of children at a tertiary care childrens hospital with acute mastoiditis from July, 1986 through June, 1998. RESULTS 118 children with acute mastoiditis were identified. Eight patients (6.8%), ages 20 months to 14 years, had intracranial complications related to acute mastoiditis. Three children had a sigmoid sinus thrombosis, two children had an epidural abscess, and two children had both complications of sigmoid sinus thrombosis and epidural abscess, and a sigmoid sinus thrombosis and meningitis was present in one child. Pre-admission oral antibiotics were administered for an average of 10 days in seven of the eight patients. Persistent otorrhea and/or otalgia were present in all patients. Intraoperative cultures were negative in four cases (50%). Organisms isolated included: Streptococcus pneumoniae (2); Proteus mirabilis (1); Pseudomonas aeruginosa (1); and coagulase negative Staphylococcus (1). Multi-drug resistant organisms were documented in only one case. All patients underwent a contrast enhanced CT of the temporal bones and brain. Surgical management included complete mastoidectomy in all patients and a pressure equalization tube in seven of the eight cases. CONCLUSIONS Our review did not document an increase in the incidence of otitic intracranial complications. Persistent otalgia or otorrhea while on oral antibiotics with associated neurologic symptoms are ominous signs suggestive of a complication. Multi-drug resistant organisms are uncommon whereas negative intraoperative cultures are common.

Intracranial complications of sinusitis: a pediatric series.

Intracranial complications of sinusitis (ICS) (cerebral, epidural, and subdural abscesses, meningitis, and dural sinus thrombophlebitis) remain a challenging and contemporary topic. The progressive pneumatization and continued development of the sinuses after birth and the late appearance of the frontal and sphenoid sinuses imply that some infections would not appear until later childhood. We reviewed the records at a large pediatric hospital between 1986 and 1995 and found 10 children with 13 ICS (cerebral abscess, 5; extra-axial empyema, 5; and meningitis, 3). Of 43 children with cerebral abscess and 16 with extra-axial abscesses treated in this period, 12% of cerebral and 63% of extra axial abscesses were due to a sinogenic source. Multiple intracranial and extracranial complications of sinusitis in a single patient were common. The average age of children with ICS was 12.2 years old. We present these 10 cases and discuss their presentation, microbiology, and clinical course. Although the majority presented with a classic picture of headache, altered mental status, and fever, a few had symptoms that were more subtle. One child had recurrent meningitis, believed to be due to skull base dehiscence after endoscopic sinus surgery (ESS). He has required multiple otolaryngologic and neurosurgical procedures in an effort to prevent further episodes of meningitis. Ultimately, nine of 10 patients survived with an average hospital stay of 27.8 days (median of 17 days). The diagnosis of ICS requires a high index of suspicion, imaging of the brain and paranasal sinuses, and aggressive intervention.

Leukocyte Interferon in Patients with Juvenile Laryngeal Papillomatosis

Fourteen patients with aggressive juvenile laryngeal papillomatosis were treated with systemic administration of alpha-type interferon (IFN). The initial dosage of 2 million units alpha-interferon/m2 was modified if a favorable response in the papilloma growth occurred, or if persistent drug-related side effects developed. Half of the patients showed a sustained response while on IFN, and two patients had a complete response. Persistent elevation in SGOT was the main dose-limiting toxicity, especially in infants below age seven years. All side effects subsided after the drug was discontinued. Further studies are recommended.

Gastroesophageal reflux association with laryngomalacia: a prospective study

OBJECTIVE To identify the incidence and clinical role of gastroesophageal reflux (GER) in patients with laryngomalacia. DESIGN Prospective evaluation of consecutive infants with a new diagnosis of laryngomalacia with an initial questionnaire, a barium esophagram or 24 h pH probe and record of their subsequent clinical course. SETTING A large, tertiary pediatric referral center and its associated outpatient clinic. PATIENTS New diagnosis of laryngomalacia in 33 consecutive infants were evaluated by questionnaire and 27 of these were evaluated for GER. RESULTS GER was observed in 64% of patients and was significantly associated with severe symptoms and complicated clinical course (P = 0.0163). The presence of smokers in the infants household negatively impacted his or her clinical course and symptomatology (P = 0.013) as did the presence of other major, concurrent medical problems (P = 0.065). CONCLUSIONS In patients with laryngomalacia, GER was significantly associated with severe symptoms (a complicated clinical course), as was smoking in an infants household and other significant medical problems.

Paranasal sinus development in chronic sinusitis, cystic fibrosis, and normal comparison population: a computerized tomography correlation study.

Chronic sinus disease in patients with and without cystic fibrosis may have an impact on the pattern of paranasal sinus pneumatization. Arrest of pneumatization has been reported in both of these conditions. To assess the development of the paranasal sinuses in relationship to chronic sinusitis and cystic fibrosis (CF), a retrospective review of coronal CT scans of the age-matched patients with no previous sinus disease, patients with chronic sinusitis, and cystic fibrosis patients was conducted. The patients’ ages ranged from 4 to 17 years. The maxillary sinus volume, anteroposterior diameter, and greatest transverse diameter and height were determined using image analysis software after the coronal CT scans were scanned into Macintosh computer. The size of the maxillary sinus increased with advancing age in the control and chronic sinusitis group, but not in the patients with cystic fibrosis. The patients with cystic fibrosis had a statistically significant smaller maxillary sinus size. Approximately 50% of the patients with chronic sinusitis had anatomic anomalies, the most common being paradoxical middle turbinates. The CT scans of CF patients were characterized by uncinate process demineralization and medial displacement of the lateral nasal wall in the middle meatus, and decreased maxillary sinus pneumatization.

Recurrent meningitis in the pediatric patient--the otolaryngologist's role.

OBJECTIVE To assess the etiology of recurrent meningitis in the pediatric patient. DESIGN Retrospective case series and literature review. SETTING Tertiary-care pediatric hospital. PATIENTS Children (< 17-years-old) with recurrent meningitis, treated at Texas Childrens Hospital (TCH) between 1984 and 1995. RESULTS A review of 463 cases of bacterial meningitis over an 11 year period revealed six children aged 3 months to 15 years with the diagnosis of recurrent meningitis. The patients age, number of episodes of meningitis, diagnostic investigations performed and etiologies of recurrent meningitis were recorded. Fifteen episodes of meningitis were identified in these six patients; Streptococcus pneumoniae represented the bacteriology in 73% of the cases. Two patients were diagnosed with temporal bone abnormalities, two children with immunological deficiencies and no underlying etiology for the recurrent meningitis was identified in the remaining two patients. In this series, one-third of patients had an otolaryngologic etiology for their recurrent meningitis. These six patients, along with a review of the recent literature, will highlight the need for otolaryngological assessment and the importance of considering immunological investigations when managing recurrent meningitis in the pediatric patient. CONCLUSION We propose that children with recurrent meningitis of unknown etiology undergo: (1) an audiological evaluation; (2) a CT scan of the temporal bones, skull base and paranasal sinuses; and (3) an immunological evaluation.

Tenuous Airway in Children With Trisomy 21

Multiple congenital anomalies are closely linked to Down syndrome(trisomy 21). Cardiac malformations are found in 40% of patients, a large number of whom will require a major surgical procedure. The importance of postextubation stridor in these children is frequently underestimated. A retrospective review of 99 trisomy 21 patients who underwent cardiovascular surgery revealed postextubation stridor in 24 (24.2%). Significant factors for the development of stridor included younger age (P=0.04), lower growth percentile for weight (P=0.03), and increased frequency of reintubation(P=0.04). Subglottic stenosis was found in 6 (6.1%). In 4 of these patients, an endotracheal tube of larger diameter than predicted for age was used. All 6 patients were less than the 10th percentile for weight. We conclude that Down syndrome patients deserve special considerations and modifications of standard intubation techniques for successful airway management.

VOCAL CORD PARALYSIS IN INFANTS AND CHILDREN

Vocal cord paralysis is the second most common cause of neonatal stridor. Recognition of laryngeal paralysis warrants further evaluation for an underlying etiology as it is frequently a manifestation of a multisystem anomaly. Initial intervention must concentrate on airway stabilization and treatment of any underlying conditions. Management strategies should be individualized and focus on maintenance of a safe and stable airway, acquisition of intelligible speech, and deglutition without aspiration.

Pediatric bilateral vocal fold immobility: the role of carbon dioxide laser posterior transverse partial cordectomy.

Vocal fold paralysis in children has been estimated to be the second most common congenital abnormality of the pediatric airway. Most commonly, children present with the vocal folds in the midline or adducted position. Pediatric patients usually have a good voice or cry and a poor airway. In these cases, the surgical goal will be improving the airway, usually by lateralizing a vocal fold, while maintaining a normal voice and intact swallowing. The focus of this article is a modification of a technique for use in adults that was introduced by Dennis and Kashima in 1989. The procedure is intended to separate the vocal ligament and vocalis muscle from the arytenoid cartilage with removal of significant tissue mass with the CO2 laser. The demographics and results of 5 pediatric patients who underwent this procedure are discussed. The preoperative goals of airway enlargement, voice preservation, and normal deglutition were achieved in all 5 patients.