Unusual features in a boy with the rapsyn N88K mutation
| Autor: | H. Aurlien, G. Norgård, Hanns Lochmüller, Juliane Müller, Laurence A. Bindoff, Geir Olve Skeie |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Adolescent Muscle Proteins Ptosis Swallowing Internal medicine Diplopia medicine Humans Genetic Predisposition to Disease Respiratory system Child Muscle Weakness business.industry Infant Newborn Infant Respiratory infection Muscle weakness RAPSN Endocrinology El Niño Child Preschool Mutation Neurology (clinical) medicine.symptom business |
| Zdroj: | Neurology. 67:2262-2263 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000249184.09369.c2 |
| Popis: | Fluctuating or episodic weakness starting in infancy is seen in congenital myasthenic syndromes (CMSs), periodic paralyses, and a disorder precipitated by febrile illness mapped to Xp22.3.1 Mutations in rapsyn ( RAPSN ) cause congenital myasthenia and more than 20 mutations with three different clinical phenotypes have been identified.2-4 The patient, now 19 years old, developed cyanotic spells at age 3 days. He was hypotonic with a weak cry, but had no persisting respiratory difficulties. He received nasogastric feeding and antibiotics, despite normal infection parameters, and was discharged well after 3 days. At age 6 months, fever developed again, possibly due to a respiratory infection; he also had problems swallowing saliva and one episode in which he became cyanotic and increasingly hypotonic. His leukocyte count fell from 36.8 to 9.2 (normal 3.5 to 11.0 × 109/L); chest x-ray, cerebral ultrasound, and EEG were normal. He was treated with oxygen and ephedrine and discharged well 5 days later. During the next 5 years, he had five more attacks, all preceded by fever and characterized by generalized weakness, including facial and tongue muscles, ptosis, and diplopia. He became briefly respirator dependent on … |
| Databáze: | OpenAIRE |
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