Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis
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LETTER TO THE EDITOR
Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis Gu¨ntu¨lu¨ Sare Duran • Tug˘c¸e Aksu Uzunhan Barıs¸ Ekici • Agop C ¸ ıtak • Nur Aydınlı • Mine C ¸ alıs¸ kan
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Received: 14 September 2012 / Accepted: 10 January 2013 Ó Belgian Neurological Society 2013
Dear Sir, Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of the neuromuscular junction that generally begin in infancy or childhood. The prevalence of CMS is estimated at 1 in 500,000 in Europe [1]. They have a wide clinical spectrum, ranging from mild muscular weakness to life-threatening severe clinical course. Common symptoms include fatigue, muscle weakness, bilateral ptosis, difficulty in chewing and swallowing, respiratory distress, hypoventilation, scoliosis, bulbar and ocular symptoms. Clinical signs may manifest in the neonatal period [2]. This synaptic type of CMS is caused by a mutation in the COLQ gene and is associated with acetylcholinesterase deficiency. It is characterized by shortness of breath,
G. S. Duran A. C¸ıtak Department of Pediatric Intensive Care, Istanbul University, Fatih, Istanbul, Turkey e-mail: [email protected] A. C ¸ ıtak e-mail: [email protected] T. A. Uzunhan N. Aydınlı M. C¸alıs¸ kan Department of Pediatric Neurology, Istanbul University, Fatih, Istanbul, Turkey e-mail: [email protected] N. Aydınlı e-mail: [email protected] M. C¸alıs¸ kan e-mail: [email protected] B. Ekici (&) Department of Pediatric Neurology, Istanbul University, Ortako¨y dereboyu cad. Arkeon sitesi A5 blok D3, Bes¸ iktas¸ , Istanbul, Turkey e-mail: [email protected]
neonatal hypotonia, delayed pupillary light reflex, opthalmoparesis and worsening of symptoms after the use of acetylcholinesterase inhibitors. Salbutamol and ephedrine may be used for treatment [3]. In this case report, we present a patient who was admitted to our clinic with severe scoliosis, muscle weakness and respiratory distress, and was found to carry a homozygous mutation in the COLQ gene and diagnosed with congenital myasthenic syndrome. A 16-year-old female patient was admitted with complaints of fatigue, shortness of breath, bilateral ptosis, difficulty in swallowing and cyanosis during sleep. Physical examination revealed severe scoliosis, bilateral symmetrical ptosis, prominent weakness of proximal muscles, bilateral slow pupillary light response, severe ophthalmoplegia and decreased deep tendon reflexes. Patient history revealed a sibling with hypotonia and similar clinical signs who had been born 3 years earlier than her and died at the age of 6 months due to respiratory problems. In our patient, her mother had felt decreased fetal movements inutero. She was hypotonic since birth and had droopy eyelids since 4 months old. She held her head up at 7 months, started walking at 2 years and had noticeable scoliosis since 2 years of age. She was examined due to hypotonicity at 4 months of age, and congenital myasthenic syndrome was suspected due t
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