Contributed by Amer Heider, MD and Urvashi, Surti, PhD
Published on line in October 2006
1 year-old male, born at 37 weeks gestation for a gravida 2 para 1 aborta 1 twenty-one year-old female, presented with delayed speech.
Pregnancy and birth and history:
Pregnancy was complicated with maternal hemorrhage required hospitalization. Prenatal US showed a multi-cystic hypoplastic left kidney, and a single umbilical cord artery. Because of the history of mental retardation and multiple malformations in her brother with a cryptic unbalanced translocation, Prenatal testing was offered during a genetic counseling session. The mother decided not to have prenatal testing.
The baby was delivered at home via spontaneous vaginal delivery and was transferred to hospital for evaluation of right scrotal mass. Pathologic examination of the placenta showed a single umbilical cord artery. Physical exam at the arrival showed normal vital signs, weight 2.9 kg, head circumference 34.5 cm, and height 47 cm. A right inguinal hernia, hypospadias and torticollis were noted. Hearing screening test failed on the right ear. BUN and creatinine were 5 and 0.8 respectively.
At 2 months of age he had noisy breathing, expiratory prolongation cough and pulmonary infection. He also had GERD, poor weight gain, developmental delay with weight 4.24 kg (3rd - 10th percentile), length 51.5 cm (less than 3rd percentile) and small appearing eyes. He had inguinal hernia repair plus orchiopexy. At 7 months of age he had plagiocephaly (right occipital flattening), macrocephaly with head circumference of 47.5 cm(0.5 cm above the 95th percentile). He also was unable sit with support.
Uncle with mild mental retardation, hearing loss, dysmorphic features, respiratory difficulties, GU abnormalities and neutropenia.
Auditory Brainstem Response supported normal response. Renal US revealed a left multicystic dysplastic kidney with no definitive left ureter, and right-sided, mild to moderate pelvocaliectasis suspicious for partial uretro-pelvic junction obstruction Figs. 1 and 2. Voiding cysto urethero gaphy showed grade II reflux in the right size and left grade I reflex into blind - ending ureter. Head CT scan, at 7monthes, showed prominence of the extraxial space overlying the frontal lobes that may reflect hydrocephalus, Fig. 3
Cytogenetic analysis and fluorescence in situ hybridization were performed and results are shown in Figs. 4, 5 and 6