This is a 30-year-old woman referred to our unit at 32 weeks, due to polyhydramnios and uterine contraction. The maternal abdomen was slightly tense and the patient was complaining of discomfort, frequent contractions and difficulty to sleep. The previous scans at 13 and 22 weeks were normal. The nuchal translucency and triple test were both normal. There was no family history of genetics disorders, malformations or relevant obstetrical past history.

In our unit, the ultrasound examination at 32 weeks revealed polyhydramnios (amniotic fluid index = 38 cm). The fetal movements seemed decreased (confirmed by the mother). The following findings were also observed in the scan:

• Different segments of the umbilical cord were thickened
• There was a strange secretion near the nose and coming from the left nostril
• The mouth did not show movements during the ultrasound examination

No other malformations were seen. The umbilical Doppler showed absent diastolic flow. The uterine artery resistance was normal. In order to relief the patient, an decompression amniocentesis was programmed, but twelve hours after the scan, the patient underwent an emergency cesarean, because the fetus showed acute fetal distress.

After birth, the newborn could not swallow and had few respiratory movements. The newborn increasingly had apnea, bradycardia and a severe hypotonia. Despite subsequent respiratory treatment and antibiotics, the newborn showed progressive respiratory insufficiency due to hypoventilation and was therefore transferred to the neonatal intensive care unit. Physical examination revealed a hypotonic neonate without facial abnormalities. There were no limb abnormalities. A neurological examination revealed weak tendon reflexes. Chest radiography showed no abnormalities. No signs of infection and metabolic disease were found. They were no external anomalies.

The baby required nasal oxygen therapy and feeding assistance during all the neonatal hospitalization. Intubation was performed fourth times. The baby had a bronchial congestion. A tracheotomy was done. A gastrostomy was done at fourth month of life. An anti-reflux gastroplasty was performed.

Note the strange secretion near the nose.

Note the cord cyst.

Left image: The umbilical artery with absent diastole flow. Right image: The uterine artery with normal flow.

Postnatal view. Note the secretion coming from the nose of the newborn.

At 10 months of life, the baby had no deglutition and he was still hypotonic. He began to have a peripheric motricity. He required constant oxygenation therapy (FI 30%). Cerebral transfontanellar sonography, CT, MRI (including brainstem) and EEG were normal. The baby and the parents electromyogram were normal. Steinert dystrophia was eliminated by DNA analysis.  The Prader Willi syndrome was also eliminated. The karyotype was normal (46 XY). Finally, a muscular biopsy was done and the enzymologic studies suggested Nemaline myopathy.  The electronic microscopic study confirmed the diagnosis.