Lujan Fryns syndrome
Overview
A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome)
Symptoms
* Retinal detachment * Long fingers * Long legs * Long arms * Pectus excavatum * Scoliosis * Loose joints * Aortic valve anomalies * Mitral valve anomalies * Ascending aorta anomalies * Marfanoid habitus * Mental retardation * Psychotic behavior
Causes
* Infections: Laryngitis, tracheitis, epiglottitis (accompanied by stridor and “thumb sign” on lateral neck X-ray), croup, upper respiratory infections, deep space face and neck infections (e.g., peritonsillar abscess, retropharyngeal abscess, parapharyngeal abscess) * Voice abuse: Shouting, speaking, or singing loudly; may also cause chronic hoarseness if the abuse is recurrent * Foreign body
Treatment
* Evaluate airway, breathing, and circulation * Trauma/obstruction: Cricothyrotomy or tracheostomy may be necessary to establish an airway * Infections: Symptomatic measures (e.g., hydration, cough suppression, decongestants), antibiotics, voice rest, surgery for abscess * Vocal abuse: Voice rest (whispering is not voice rest); if speaking is absolutely necessary, oral steroids may be used; voice therapy may be necessary in chronic voice abuse to correct faulty vocal habits * GERD: H2 blockers or proton pump inhibitors, diet modification * Allergic rhinitis/chronic sinusitis: Intranasal steroids and/or antihistamines (e.g., loratadine) * Irritants: smoking cessation, protective clothing or masks * Masses usually require surgical intervention * Endocrine, neurologic, and rheumatologic etiologies should be treated appropriately