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Mitochondrial neurogastrointestinal encephalomyopathy: case report. 2010

Yaşar Çolak, and İlyas Tuncer, and Erkan Çağlar, and Dilek Barutçu, and Celal Ulaşoğlu, and Şafak Kiziltaş
Department of Gastroenterology, İstanbul Göztepe Educational and Research Hospital, İstanbul. dryasarcolak@yahoo.com

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities. Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.

UI MeSH Term Description Entries
D007418 Intestinal Pseudo-Obstruction A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM. CIPO,Chronic Idiopathic Intestinal Pseudo-Obstruction,Paralytic Ileus,Pseudo-Obstruction, Intestinal,Visceral Myopathy,Congenital Short Bowel Syndrome,Enteric Neuropathy,Intestinal Pseudo-Obstruction, Idiopathic,Intestinal Pseudoobstruction,Pseudointestinal Obstruction Syndrome,Pseudoobstructive Syndrome,Chronic Idiopathic Intestinal Pseudo Obstruction,Enteric Neuropathies,Idiopathic Intestinal Pseudo-Obstruction,Idiopathic Intestinal Pseudo-Obstructions,Intestinal Pseudo Obstruction,Intestinal Pseudo Obstruction, Idiopathic,Intestinal Pseudo-Obstructions,Intestinal Pseudo-Obstructions, Idiopathic,Intestinal Pseudoobstructions,Myopathy, Visceral,Neuropathy, Enteric,Obstruction Syndrome, Pseudointestinal,Pseudo Obstruction, Intestinal,Pseudointestinal Obstruction Syndromes,Pseudoobstruction, Intestinal,Pseudoobstructive Syndromes,Syndrome, Pseudointestinal Obstruction,Syndrome, Pseudoobstructive,Visceral Myopathies
D009886 Ophthalmoplegia Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles. Oculomotor Paralysis,External Ophthalmoplegia,Internal Ophthalmoplegia,Ophthalmoparesis,External Ophthalmoplegias,Internal Ophthalmoplegias,Ophthalmopareses,Ophthalmoplegia, External,Ophthalmoplegia, Internal,Ophthalmoplegias,Ophthalmoplegias, External,Ophthalmoplegias, Internal,Paralysis, Oculomotor
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017237 Mitochondrial Encephalomyopathies A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) Encephalomyopathies, Mitochondrial,Encephalomyopathy, Mitochondrial,Mitochondrial Encephalomyopathy
D055815 Young Adult A person between 19 and 24 years of age. Adult, Young,Adults, Young,Young Adults
D039141 Muscular Dystrophy, Oculopharyngeal An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy. Oculopharyngeal Dystrophy,Oculopharyngeal Muscular Dystrophy,Progressive Muscular Dystrophy, Oculopharyngeal Type,Dystrophies, Oculopharyngeal Muscular,Dystrophy, Oculopharyngeal Muscular,Muscular Dystrophies, Oculopharyngeal,Oculopharyngeal Muscular Dystrophies

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