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Table of Contents    
Year : 2021  |  Volume : 69  |  Issue : 1  |  Page : 228-229

COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India

1 Department of Pediatrics, Healthway Hospital, Mapusa, Goa, India
2 Department of Pediatrics, Gauns Child Care Hospital, Mapusa, Goa, India

Date of Submission28-Aug-2019
Date of Decision24-Oct-2019
Date of Acceptance06-Aug-2020
Date of Web Publication24-Feb-2021

Correspondence Address:
Sumant P Prabhudesai
Pediatric Intensive Care Unit, Healthway Hospital, Plot No 132/1 (Part), Kadamba Plateau, Ella Village, Old Goa, Goa - 403 402
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.310105

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How to cite this article:
Pallithanam JJ, Prabhudesai SP, Naik N, Gauns S. COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India. Neurol India 2021;69:228-9

How to cite this URL:
Pallithanam JJ, Prabhudesai SP, Naik N, Gauns S. COLQ-Related Congenital Myasthenic Syndrome in a Child from Western India. Neurol India [serial online] 2021 [cited 2022 May 16];69:228-9. Available from: https://www.neurologyindia.com/text.asp?2021/69/1/228/310105


A 6-month-old boy presented with feeding difficulty and breathing difficulty since 2 days. He was the first born child of a non-consanguineous Gujarati couple. His antenatal and perinatal course were uneventful. He had a weak cry and was noted to have no head holding at 3 months of age. At 5 months, he was hospitalized with transient feeding difficulty which resolved spontaneously. On examination, he had generalized muscle wasting, hypotonia, and preserved proximal and distal power. Deep tendon reflexes were brisk. He had no head holding and was able to roll over partially from supine to prone. Pupillary reflexes were normal. As his respiratory distress progressed rapidly he was intubated and ventilated. He improved within 36 h and was successfully extubated.

Serum electrolytes, calcium, magnesium, phosphorus, creatine kinase, renal, liver and thyroid functions, Tandem Mass Spectrometry, urine organic acids screen, and brain magnetic resonance imaging were normal. Ultrasonography revealed right diaphragmatic weakness. Echocardiography showed pulmonary hypertension. Electrodiagnostic studies including repetitive nerve stimulation (RNS) were not available. Genetic analysis by next-generation sequencing (NGS) was performed.

Diaphragmatic ultrasonography and echocardiography were normal at 2-weeks' follow-up. A month later he was re-admitted with similar symptoms, and required ventilation for 48 h. Neostigmine challenge was inconclusive.

NGS showed a homozygous single base-pair deletion in exon-9 of COLQ gene (c557delG) suggesting congenital myasthenic syndrome (CMS) Type-5. He was started on oral salbutamol. At 10 months of age he had achieved head holding and had no further hospitalizations. Hypotonia and ptosis were persistent.

One of the largest series on COLQ affected children found the majority of patients presenting as neonates with hypotonia, ptosis, ophthalmoparesis, and poor suck and cry.[1] Respiratory crises were common. Slow pupillary responses was seen in about one-fourth. About 50% reported fluctuation of symptoms with diurnal fluctuation seen in about 36%. Disease progression was seen in less than half of the cohort, majority progressing over five years or longer. Few cases have been reported from India.[2],[3],[4] [Table 1].
Table 1: Features of previously reported cases from India; RNS: Repetitive Nerve Stimulation; CMAP: Compound muscle action potential

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Limited studies have demonstrated gradual improvement with salbutamol and ephedrine though the exact mechanism remains unclear.[2],[5]

Decremental response on RNS and Repetitive Compound Muscle Action Potentials are pointer toward COLQ CMS.[1] However, we were not able to perform electrodiagnostic studies on our patient.

CMS should be suspected in a hypotonic infant with ophthalmoplegia and feeding difficulties especially with episodic crises. Genetic analysis helps with therapy decisions, prognostication and genetic counselling.

  References Top

Mihaylova V, Muller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, et al. Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain 2008;131:747-59.  Back to cited text no. 1
Padmanabha H, Saini AG, Sankhyan N, Pratibha Singhi P. COLQ-related congenital Myasthenic syndrome and response to salbutamol therapy. J Clin Neuromuscul Dis 2017;18:162-3.  Back to cited text no. 2
Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M, et al. Congenital Myesthenic syndrome: Spectrum of mutations in an Indian cohort. J Clin Meuromuscul Dis 2018;20:14-27.  Back to cited text no. 3
Khwaja GA, Chowdhury D, Gupta M. Congenital myasthenic syndrome: Report of four cases and brief review of literature. Neurol India 2000;48:266-71.  Back to cited text no. 4
[PUBMED]  [Full text]  
Rodriguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb S. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes. Neurology 2015;85:1043-7.  Back to cited text no. 5


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