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Lookup NU author(s): Dr Juliane Mueller, Professor Hanns Lochmuller
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Congenital myasthenic syndromes (CMS) result from mutations in various synapse-associated genes. Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA). We present two unrelated Croatian children affected by CMS-EA. Beside other clinical findings characteristic for CMS, both patients manifested intermittent apneas since early infancy. Whereas the course of disease is mild in the female patient (patient 2), the male patient (patient 1) experienced recurrent and severe episodes of apnea despite adequate treatment with AChE-inhibitors and shows a global developmental delay with delayed myelination and signs of hypoxic-ischemic injury in brain imaging. Interestingly, sequencing of the CHAT gene revealed identical, compound heterozygous mutations S694C and T354M in both children. These findings are in line with a remarkable clinical heterogeneity observed in patients with CHAT mutations and emphasize the potential role of apneic crises for the development of secondary hypoxic brain damage and psychomotor retardation.
Author(s): Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A
Publication type: Article
Publication status: Published
Journal: European Journal of Paediatric Neurology
Year: 2005
Volume: 9
Issue: 1
Pages: 7-12
ISSN (print): 1090-3798
ISSN (electronic): 1532-2130
Publisher: Elsevier Ltd
URL: http://dx.doi.org/10.1016/j.ejpn.2004.10.008
DOI: 10.1016/j.ejpn.2004.10.008
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