Fatal Nemaline Myopathy in Infancy

Abstract

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients. RESUME: Nous d6crivons les caract6ristiques cliniques et neuropathologiques de deux nourissons avec une myopathic nemaline cong£nitale. Un patient est n€ avec une hypotonic severe, une insuffisance respiratoire et des contractures, et il est mort peu apres la p6riode n^onatale. Le deuxieme patient montra a deux mois une hypotonic et devait mourir d'insuffisance respiratoire a 7 mois apres une p6riode de stability. Chez le premier enfant la neuropathologie a montrd de nombreux corps en batonnet dans les muscles de la langue, du pharynx, du diaphragme et des membres. Chez le second patient les memes batonnets, mais en nombre inf£rieur, furent trouv^s dans les muscles du diaphragme et des membres. MalgrS l'hypothese d'une base neurale pour cette maladie, il fut impossible de trouver des anomalies du CNS ou des nerfs p6riph6riques chez ces deux patients.

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis

“…The severe respiratory distress may be due to a high number of rods into the diaphragm [11,23,27]. McMenamin et al [13] describe the neuropathological findings in 2 infants with congenital nemaline myopathy. One patient died shortly after the neonatal period.…”

Heterogeneity of Nemaline Myopathy

“…A few exceptions to the proposed grouping empha size the heterogeneity of NM: The first exception to this rather rigid delineation of the clinical presentation is the previously reported case [4] who died at the age of 7 months of irreversible respiratory failure showing only moderate weakness at 2 months of age. Such a fatal course is very unusual and infrequently documented [8].…”

“…There were two sets of siblings: 2 brothers and 2 sisters. One additional female with generalized weak ness [4], who died at 7 months of age, had a sister who also died at the age of 6 months of respiratory failure. Further examination was not performed.…”

“…Subsequent reports address a wider heterogeneity documenting neonates with NM who died of fulminant respiratory failure [3,4] and newly diagnosed adults presenting with weakness [5], The clinical and laborato ry features of 13 patients with NM are reported herein. To add to the clinical spectrum of NM previously report ed, we also describe 2 infants with initial moderate weakness who subsequently developed irreversible respiratory failure which was successfully treated with long-term ventilatory support.…”

Adult onset of nemaline myopathy presenting as diaphragmatic paralysis.

“…In: Abstracts of the 5th International Congress on Neuromuscular Diseases. Marseilles, September [12][13][14][15][16][17][18]1982. 12 Scoppetta C, Vaccario ML, Casali C, Di Trapani G, Mennuni G. Distal muscular dystrophy with autosomal recessive inheritance.…”