This is the first reported case of a patient surviving symptomatic nemaline myopathy presenting in the newborn period, suggesting that exceptional therapeutic measures may be justified.
May support aggressive neonatal care in nemaline myopathy; leaves open generalizability from single-case evidence.
We report a patient with nemaline myopathy of sporadic genetical character, who presented with respiratory insufficiency in the neonatal period and has been followed for 4 years. The evolution towards progressive improvement is described in detail, particularly the therapeutic problems posed by the respiratory insufficiency and the alterations of swallowing. This is the first patient reported in the literature who has survived symptomatic nemaline myopathy presenting in the newborn period. The experience of this case may justify the use of exceptional therapeutic measures in other patients.
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Roig et al. (1987) studied this question.
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