Case history
We report on a child who came to our attention because of the presence of increased nuchal translucency () in the first trimester of pregnancy. Second trimester morphology ultrasound revealed right pyelocaliectasis and single umbilical artery. Third trimester ultrasound showed the presence of polydramnios (Amniotic Fluid Index ) and fetal macrocephaly (head circumference > 95° centile). Fetal brain MRI detected enlargement of periencephalic liquoral spaces and mild lateral ventricular asymmetry. Fetal echocardiography registered the presence of supraventricular extrasystoles. Further prenatal ultrasounds revealed ascites and hepatosplenomegaly, and confirmed the presence of abnormal fetal biometric parameters (head circumference > 95° centile, abdominal circumference > 95° centile). The patient was born to non-consanguineous and healthy parents after a spontaneous pregnancy at 39 weeks of gestation by caesarean section. Family history was silent. At birth, she was appropriate for gestational age (AGA), with a birth weight of 3.63 kg, her head circumference was 37.3 cm (> 97°), and her length was 54 cm (> 97° centile). Apgar scores were 9 and 10 at 1 and 5 minutes after birth, respectively. At birth she presented minor facial anomalies: hypertelorism, low-set ears, posterior cleft palate, long fingers and toes, single umbilical artery and axial hypotonia.
Subsequent abdominal ultrasound exams showed the presence of splenomegaly without pyelocaliectasis. Brain MRI, performed at nearly 2 months of age, revealed moderately increased brain volume, mild lateral ventricular asymmetry, thinned dysmorphic corpus callosum and dysmorphic aspects of brain stem (Figure 1).
Electrocardiographic screening for long QT syndrome demonstrated the presence of Wolf-Parkinson-White Syndrome, treated with beta-blockers and anti-arrhythmic drugs.
Soon after birth severe leukocytosis appeared (43950/mm3), although further blood exams revealed normal leucocyte count at 9 months of age.
With regard to psychomotor development, at 10 months of age she was able to smile in the interaction with the adult, vocalize, turn her head to follow objects, reach out and grasp them, sit with anterior support. However, she presented reduced eye movement coordination and lower extremities hypotonia.
We evaluated again the child when she was 16 months old. Physical examination showed macrocephaly, frontal bossing, sparse eyebrows, hypertelorism, exophthalmos, depressed nasal root, low-set and posteriorly rotated ears, ligamentous laxity and hyposthenia (figure 2). Her weight was 11.3 kg (75° centile), her length was 72.5 cm (5° centile), and her occipital‐frontal circumference was 53 cm (>97°centile). She was able to babble and to walk with adult support.