Hemiscrotal agenesis: A Novel phenotype of a Rare malformati
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Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe.

A 14-month-old boy was referred for atypical genitalia. Examination of external genitalia revealed absence of scrotal rugae on the right side, ipsilateral cryptorchidism and abnormal external tissue on the right side of the perineum. The right testis was palpable in the inguinal region, the left testis was in the scrotum with intact midline raphe, and his penile length was 4.8 cm (normal for age). Extra-genital examination showed right monodactylous lower limb, normal tone and deep tendon reflexes.

In addition, work-up for associated extra-genital anomalies was done. Skeletal survey showed right monodactylous lower limb (with only a big toe which had 2 phalanges) and normal spine alignment. This limb malformation resulted in motor developmental delay for which he started to stand supported with the help of orthopedic shoes, physical and occupational therapy. Associated intra-abdominal anomalies including renal system abnormalities were excluded by abdominal and pelvic ultrasonography. A previous echocardiography showed a small muscular ventricular septal defect (VSD) that closed on follow-up.

MRI of the brain showed posterior fossa malformation in the form of dysplastic left cerebellar hemisphere with hypoplasia of its antero-superior compartment, total aplasia of its postero-inferior compartment and a small cleft traversing the inferior aspect of the right cerebellar hemisphere. Despite that no seizures were reported, right focal epileptiform activity was detected by electroencephalogram.

Intra-operatively, the patient had his right testis fixed in the right scrotum. Two biopsies were taken; one of them from the scrotal skin and the other from the perineal lesion. The pathological examination of the perineal lesion showed fibro-epithelial polyp (skin tag), with no testicular tissue or atypia.

This is the first case to be reported with hemiscrotal agenesis and ipsilateral cryptorchidism associated with a perineal skin tag, unilateral monodactylous lower limb on the same side, unilateral cerebellar hypoplasia, and VSD.

Source: https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-020-02424-y