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Dysphagia in a Patient With Recurrent Bilateral Eyelid Ptosis
Clinical Challenges and Images in GI continued
Dysphagia in a Patient With Recurrent Bilateral Eyelid Ptosis
Question: An 85-year-old man presented with worsening of dysphagia. The symptoms had started 4 years earlier affecting first solid foods and progressively liquid intake. The patient had lost 16 kg over the past year. He had a long-standing depressive disorder treated with a tetracyclic antidepressant and a selective serotonin reuptake enhancer drug. His past medical history also comprised a recurrent bilateral eyelid ptosis. Ptosis was not present at age 45 (Figure A) and appeared during the sixth decade. Although the patient had bilateral surgical repairs at ages 69 and 73, eyelid ptosis was still present at age 85 (Figure B). Physical examination and laboratory tests were otherwise not remarkable. Upper tract gastrointestinal endoscopy was normal. Barium pharyngoesophagography was performed (Figure C). Using the Internet, the patient’s first cousin, who had the same symptoms, found the diagnosis. What is your diagnosis? What treatment do you propose?
Look on page 2226 for the answer and see the GASTROENTEROLOGY web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. PIERRE-EMMANUEL RAUTOU XAVIER DRAY PHILIPPE MARTEAU Department of Digestive Diseases Lariboisière Hospital AP-HP & Diderot-Paris 7 University Paris, France
Conflicts of Interest The authors disclose no conflicts. © 2010 by the AGA Institute 0016-5085/$36.00 doi:10.1053/j.gastro.2009.11.065
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CLINICAL CHALLENGES AND IMAGES IN GI
GASTROENTEROLOGY Vol. 139, No. 6
Answer to the Clinical Challenges and Images in GI Question: Image 2 (page 1835): Autosomal-Dominant Oculopharyngeal Muscular Dystrophy Barium pharyngoesophagography showed a posterior stricture of the upper part of oesophagus owing to permanent cricopharyngeal muscle hypertony. The patient’s maternal grandmother, maternal aunt, and maternal first cousin also had eyelid ptosis and dysphagia in their 70s or 80s. Other members of the family had died before reaching their 70s of unrelated conditions. The diagnosis of autosomal-dominant oculopharyngeal muscular dystrophy was clinically suspected in this patient. Indeed, this disease is a hereditary, autosomal-dominant myopathy characterized by progressive impairment of pharyngeal and levator palpebrae musculatures. Patients exhibit symptoms in their 60s. It affects approximately 1 in 1000 individuals in Quebec, but is much rarer in other countries (eg, 1/200 000 in France).1 The diagnosis was genetically confirmed by the detection of an expansion of the GCG triplets from 6 (wild-type) to 9 repeats in the poly-(A)-binding protein 2 (PABP2) gene, which localizes in chromosome 14q11.1 Cricopharyngeal myotomy is the treatment of choice for dysphagia in oculopharyngeal muscular dystrophy and was performed in our patient.2 Two days later, he showed significant improvement of his swallowing ability. One month later, he ate normally. Five months later he had gained 8 kg. Without therapy, progression of disease leads to undernutrition and aspiration pneumonia. Cricopharyngeal muscle percutaneous injection of botulinum toxin type A has been reported as an alternative to surgery, even though evidence is lacking.3 References 1. Brais B, Rouleau GA, Bouchard JP, et al. Oculopharyngeal muscular dystrophy. Semin Neurol 1999;19:59 – 66. 2. Coiffier L, Perie S, Laforet P, et al. Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy. Otolaryngol Head Neck Surg 2006;135:218 –222. 3. Restivo DA, Marchese Ragona R, Staffieri A, et al. Successful botulinum toxin treatment of dysphagia in oculopharyngeal muscular dystrophy. Gastroenterology 2000;119:1416. For submission instructions, please see the GASTROENTEROLOGY web site (www.gastrojournal.org).
Dysphagia in a Patient With Recurrent Bilateral Eyelid Ptosis
Question: An 85-year-old man presented with worsening of dysphagia. The symptoms had started 4 years earlier affecting first solid foods and progressively liquid intake. The patient had lost 16 kg over the past year. He had a long-standing depressive disorder treated with a tetracyclic antidepressant and a selective serotonin reuptake enhancer drug. His past medical history also comprised a recurrent bilateral eyelid ptosis. Ptosis was not present at age 45 (Figure A) and appeared during the sixth decade. Although the patient had bilateral surgical repairs at ages 69 and 73, eyelid ptosis was still present at age 85 (Figure B). Physical examination and laboratory tests were otherwise not remarkable. Upper tract gastrointestinal endoscopy was normal. Barium pharyngoesophagography was performed (Figure C). Using the Internet, the patient’s first cousin, who had the same symptoms, found the diagnosis. What is your diagnosis? What treatment do you propose?
Look on page 2226 for the answer and see the GASTROENTEROLOGY web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. PIERRE-EMMANUEL RAUTOU XAVIER DRAY PHILIPPE MARTEAU Department of Digestive Diseases Lariboisière Hospital AP-HP & Diderot-Paris 7 University Paris, France
Conflicts of Interest The authors disclose no conflicts. © 2010 by the AGA Institute 0016-5085/$36.00 doi:10.1053/j.gastro.2009.11.065
1835
2226
CLINICAL CHALLENGES AND IMAGES IN GI
GASTROENTEROLOGY Vol. 139, No. 6
Answer to the Clinical Challenges and Images in GI Question: Image 2 (page 1835): Autosomal-Dominant Oculopharyngeal Muscular Dystrophy Barium pharyngoesophagography showed a posterior stricture of the upper part of oesophagus owing to permanent cricopharyngeal muscle hypertony. The patient’s maternal grandmother, maternal aunt, and maternal first cousin also had eyelid ptosis and dysphagia in their 70s or 80s. Other members of the family had died before reaching their 70s of unrelated conditions. The diagnosis of autosomal-dominant oculopharyngeal muscular dystrophy was clinically suspected in this patient. Indeed, this disease is a hereditary, autosomal-dominant myopathy characterized by progressive impairment of pharyngeal and levator palpebrae musculatures. Patients exhibit symptoms in their 60s. It affects approximately 1 in 1000 individuals in Quebec, but is much rarer in other countries (eg, 1/200 000 in France).1 The diagnosis was genetically confirmed by the detection of an expansion of the GCG triplets from 6 (wild-type) to 9 repeats in the poly-(A)-binding protein 2 (PABP2) gene, which localizes in chromosome 14q11.1 Cricopharyngeal myotomy is the treatment of choice for dysphagia in oculopharyngeal muscular dystrophy and was performed in our patient.2 Two days later, he showed significant improvement of his swallowing ability. One month later, he ate normally. Five months later he had gained 8 kg. Without therapy, progression of disease leads to undernutrition and aspiration pneumonia. Cricopharyngeal muscle percutaneous injection of botulinum toxin type A has been reported as an alternative to surgery, even though evidence is lacking.3 References 1. Brais B, Rouleau GA, Bouchard JP, et al. Oculopharyngeal muscular dystrophy. Semin Neurol 1999;19:59 – 66. 2. Coiffier L, Perie S, Laforet P, et al. Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy. Otolaryngol Head Neck Surg 2006;135:218 –222. 3. Restivo DA, Marchese Ragona R, Staffieri A, et al. Successful botulinum toxin treatment of dysphagia in oculopharyngeal muscular dystrophy. Gastroenterology 2000;119:1416. For submission instructions, please see the GASTROENTEROLOGY web site (www.gastrojournal.org).