Contactin-associated protein 1 (CNTNAP1)-related congenital hypomyelinating neuropathy (CHN) is a rare type of peripheral neuropathy and has a clinically heterogeneous presentation. We report a neonate with an atypical presentation in the form of global hypotonia, facial diparesis and partial response to neostigmine challenge test. There was no clinical improvement on initiation of anticholinesterase drug for suspected congenital myasthenia and hence stopped. Detection of a pathogenic variant in CNTNAP1 gene by clinical exome sequencing and subsequent reverse phenotyping confirmed CHN as the aetiology for this floppy neonate, which is known to have high mortality. The baby was given supportive care and she succumbed secondary to complications of prolonged ventilation.
- neuromuscular disease
- neonatal and paediatric intensive care
- paediatrics (drugs and medicines)
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Contributors SR, UD, UB and AC managed the patient. SR and UD conceptualised the case report. UD will be the guarantor SR performed literature review and drafted the initial version of the manuscript. UD, UB and AC contributed to literature review and critically revised the manuscript. All the authors contributed to drafting of the manuscript and approved the final version of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.