Sturge-Weber syndrome

We report the case of a severely mentally handicapped 30-year-old woman with Sturge-Weber syndrome who developed obstructive sleep apnea syndrome (OSA) following esophageal aspiration of two foreign bodies, which were discovered incidentally during a neck CT scan. Initial polysomnography findings revealed significant OSA with an apnea-hypopnea index (AHI) of 40.8 events per hour. Repeat polysomnography following endoscopic removal of the foreign bodies revealed marked improvement of her OSA with a decrease of AHI to 15.6 events per hour. Our report highlights the importance of considering foreign body aspiration as a cause for OSA in mentally handicapped patients.

Key words: autotitrating continuous positive airway pressure; foreign bodies; mental retardation; obstructive sleep apnea; polysomnography; Sturge-Weber syndrome

Abbreviations: AHI = apnea-hypopnea index; GERD = gastroesophageal reflux disease; OSA = obstructive sleep apnea

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Obstructive sleep apnea (OSA) results from repetitive episodes of partial or complete pharyngeal collapse during sleep. Obesity (ie, body mass index, > 28), age, male sex, positive family history, and alcohol ingestion are major risk factors for this disorder. (1) Developmental delay, craniofacial abnormalities, and neurologic diseases also can be associated with sleep-disordered breathing. (2-4) OSA frequently results in excessive daytime sleepiness and can cause hypertension. (5) Our patient was deaf, mute, and blind due to Sturge-Weber syndrome and thus was unable to provide any medical history. To the best of our knowledge, this is the first report of reversible secondary OSA resulting from esophageal foreign body aspiration.

CASE REPORT

A 30-year-old, severely developmentally delayed woman with Sturge-Weber syndrome was brought in for evaluation due to the subacute onset of nighttime coughing, choking, snoring, and lethargy. Respiratory; "rattling" sounds were heard, and increased drooling and dysphagia of solids and liquids were noted. Her medical history was significant for a left hemiparesis, cleft palate, and seizures. The initial assessment revealed a profoundly mentally handicapped lethargic woman slumped in her wheelchair with a BP of 91/46 mm HR, a heart rate of 68 beats/min, a respiratory rate of 14 breaths/min, pulse oximetry of 98% on room air, and a temperature of 37.0[degrees]C. Examination revealed sialorrhea, facial dysmorphic features with a right cheek hemangioma, deafness, blindness, rales in the bilateral lung bases, and a right hemiparesis with increased tone.

A barium swallow examination revealed a mild delay in the initiation of swallowing but no clear obstruction or aspiration. Overnight polysomnography revealed significant OSA with an apnea-hypopnea index (AHI) of 40.8 events per hour, pulse oximetry nadir of 83%, and a desaturation index of 6.9 (Table 1, Fig 1). Treatment with an autotitrating, nasal, continuous positive airway pressure machine (Tranquility auto-CPAP; Respironics Inc; Murrysville, PA) resolved the patient's nighttime symptoms, brightened her affect, and reduced the number of her seizures. Eighteen months later, the patient underwent cervical spine CT following a traumatic fall down stairs. Foreign bodies were incidentally found lodged in the proximal esophagus near the cricoid cartilage (Fig 2). Two plastic stars 5 cm in diameter (from tip to tip) were removed by endoscopy (Fig 3). Repeat polysomnography revealed marked improvement in her OSA with a decrease in her AHI to 15.6 events per hour and an increase in her pulse oximetry nadir to 94%. Her desaturation index normalized to 0.0 (Table 1, Fig 1). Following the discontinuation of therapy with continuous positive airway pressure, the patient remained alert during the day with a stable seizure disorder and reduced sialorrhea and dysphagia.

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DISCUSSION

Sturge-Weber syndrome is a neurocutaneous disorder manifested by a cutaneous vascular port-wine nevus of the face, contralateral hemiparesis and hemiatrophy, glaucoma, seizures, and mental retardation. (6) The resulting muteness, blindness, and deafness in our patient prevented her from reporting the foreign body aspiration to caregivers, thus allowing her nighttime respiratory difficulties to be misidentified as idiopathic OSA. The foreign bodies were found incidentally during CT scanning of the neck. Other potential diagnostic imaging modalities include chest radiograph or lateral soft-tissue plain films of the neck. Neither of these methods are as effective as CT scanning in revealing aspirated foreign bodies.

Prior studies (2,7) of sleep in patients with cerebral palsy have revealed a number of factors that contribute to sleep disordered breathing including the following: hypotonic pharyngeal muscles; pooling of secretions in the upper airway due to muscular incoordination; and asynchronous medullary neuronal output to the upper airway, diaphragm, and chest wall muscles. Esophageal aspiration of a foreign body is a mechanism for the accumulation of secretions in the upper airway. Our patient had significant sialorrhea, as well as dysphagia, suggesting that excessive secretions were present and may have caused her obstructive events. In addition, gastroesophageal reflux disease (GERD) is a common occurrence in patients with OSA as well as developmental delay. (8,9) GERD can precipitate cortical arousals worsening sleep fragmentation. (9) In this manner, GERD could have exacerbated the patient's sleep disruption and daytime symptoms.

Esophageal aspiration of a foreign body could result in a number of sleep disorders. The sleep disruption and choking observed during her episodes are consistent with sleep-related choking syndrome. Sleep-related abnormal swallowing syndrome results in sleep disruption due to inadequate swallowing of saliva, causing aspiration, choking, and coughing. Sleep-related laryngospasm was suggested by the respiratory rattling sounds that the mother noted during sleep. Her inability to communicate prevented us from evaluating the subjective aspects of these disorders. Ultimately, the patient met the diagnostic criteria for OSA, which superceded these other diagnoses. (10)

CONCLUSION

The diagnosis of OSA requires the presence of excessive daytime sleepiness, witnessed apneas, and snoring. (10) All of these characteristics were observed by the caregiver. Polysomnography confirmed our diagnosis by revealing significant OSA. (11) Typically, decreased upper airway tone, pharyngeal fat deposition, and nasopharyngeal, hypopharyngeal, and oropharyngeal obstructions cause OSA in adults. In mentally handicapped individuals, secondary causes of OSA, such as esophageal aspiration of a foreign body, also should be considered. Barium swallow evaluations and CT scanning are useful diagnostic options, although the barium swallow can give false-negative results. Endoscopy is the diagnostic and treatment modality of choice, and should be considered in any mentally handicapped patient with OSA who has an acute or subacute onset of the disorder as well as dysphagia, odynophagia, sialorrhea, or weight loss. A high index of suspicion is necessary to make this diagnosis successfully.

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(6) Rowland LP. Merritt's neurology. 10th ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2000; 371-372

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(10) American Academy of Sleep Medicine. The international classification of sleep disorders, revised: diagnostic and coding manual. Rochester, MN: American Academy of Sleep Medicine, 2000

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* From the Departments of Neurology (Dr. Watson) and Medicine (Dr. Kapur), Sleep Disorders Center, University of Washington, Seattle, WA.

Manuscript received October 29, 2002; revision accepted January 17, 2003.

Correspondence to: Nathaniel F. Watson, MD, University of Washington Sleep Disorders Center, Box 359803, 325 Ninth Ave, Seattle, WA 98104-2499; e-mail: nwatson@u.washington.edu

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