ISOLATED UNILATERAL DIAPHRAGMATIC PARALYSIS AS INITIAL NEONATAL MANIFESTATION OF MULTI-MINICORE MYOPATHY

Objectives: We report a case of multi-minicore myopathy presenting at birth with isolated and asymetric diaphragmatic paralysis of favorable outcome.

Methods: Retrospective study of a case and review of the litterature.

Results: A term newborn infant presented at birth with an isolated respiratory distress related to an asymmetric (right > left) diaphragmatic paresis. Neurological examination at 1 month of age disclosed additional anomalies including severe segmental hypotonia located to upper limbs, cervical and orofacial muscles. Reflexes were absent in the upper limbs. Motor examination of the lower limbs was strictly normal. Investigations included normal EMG/NCV, normal CK levels, normal brain and spinal MRI and negative genetic testing for SMA. Caryotype was normal. A deltoid muscle biopsy done at 3 months of age displayed a multi-minicore myopathy pattern. Testing for ESPN-1 gene is pending. A right thoracoscopy for diaphragmatic placation was performed at 3 months of age. Ventilation was then progressively weaned. A spectacular improvement in motor functions was noted on follow-up.

Conclusion: Isolated and asymmetric diaphragmatic paralysis is a relatively uncommon presenting feature of congenital muscular disorders, such as multi-minicore myopathy. The favorable outcome we rapidly observed is also unexpected in the general context of neonatal diaphragmatic paralysis, especially those due to multi-minicore myopathy. The differential diagnosis of such clinical presentation, their various outcome, and the implications for neuroneonatal cares, will be discussed.