Amyoplasia congenita and intestinal atresia: a common etiology

Abstract

Amyoplasia is the most common form of arthrogryposis (multiple congenital contractures) and of unknown etiology. It seems to occur in discordant monozygotic twins. The coexistence of other lesions resulting from vascular disruption in fetal life would tend to support a common etiology. Case reportThe patient was the second of twins born at term with a birthweight of 2.05 kg to a 23-year-old primigravida. Antenatal scans at 26 wk showed dilated loops of bowel and also flexion deformities of the lower limbs. Apgar scores were 9 at 1 min and 10 at 5 min. Abnormalities immediately evident were abdominal distension and flexion deformities with contractures of the lower limbs at the hips and knees and characteristic positioning of the upper limbs (Figs 1, 2). Abdominal X-rays showed a picture consistent with intestinal obstruction. At laparotomy, there were seven atresias in the jejunum and ileum (two of these were in continuity with a membrane and one an apple-peel atresia in the terminal ileum) in association with malrotation. Twelve centimetres of dilated jejunum proximal to the first atresia was resected and a total of five anastomoses were performed. A Ladd's procedure was performed for the malrotation with an appendicectomy. The total small bowel length remaining at the end of the operation was 86 cm. She was ventilated for a period of 48 h after birth. Parenteral nutrition was used for 20 d, after which enteral feeds were commenced. She developed conjugated hyperbilirubinaemia in the 2nd week after the operation. Following extensive investigations this appeared to be secondary to TPN cholestasis; bilirubin levels gradually returned to normal.Mobilization of the limbs was started soon after birth, focusing on the flexion deformities of both hips and knees and equinovarus deformities of both feet. There were no fixed deformities in the upper limbs but the left shoulder was held in internal rotation.Magnetic resonance imaging (MRI) of the brain and spinal cord showed signal changes of ischaemia of the brain and atrophy of the upper thoracic cord. MRI of the pelvis and lower limbs showed striking muscle atrophy throughout the pelvis and both lower limbs involving all muscle groups. Erector spinae, psoas and the levators appeared relatively well preserved. Iliacus and obturator internus were grossly atrophic. Both hips were located in the joints. Release of her hip contractures was done at 10 mo of age.Follow-up at 11 mo showed her to be developmentally normal, though her weight and head circumference remain below the 0.4 centile.

The spectrum of brain malformations and disruptions in twins

“…More examples are found in the literature, for example, amyoplasia with gastroschisis, intestinal atresia or transverse terminal limb defects (Collins et al, 1986;Hall et al, 2014;Reid et al, 1986;Shenoy, Marlow, & Stewart, 1999), gastroschisis with SOD or MCDs (Garvin, Sampath, & Karody, 2016;Jordan & Montezuma, 2015;Kamien, Zankl, & Gabbett, 2010;Sullivan, Croitoru, Casella, Hartman, & Edwards, 2018;Curry et al, 2005), SOD with terminal limb defects (Faivre et al, 2002;Harrison, Brosnahan, Phelan, Fitzgerald, & Reardon, 2004;Pagon & Stephan, 1984), and many others. In our view, the many reports of co-occurrence imply that all or most of these phenotypes have shared pathogenesis, and that any proposed mechanisms must account for this phenomenon.…”