PMC9329137_01
First case: (
A, B
) Clinical examination of the perineum (at the age of 7 months) demonstrates the caudally displaced hypospadiac phallus (black arrow), single "central" perineal orifice, and perineal lipoma (asterisk). Note: empty right scrotal compartment. (
C
) Contrast X-ray study: injection of contrast through distal colostomy demonstrating the rectum (R) that was not communicating with the urinary bladder (UB); the latter was opacified through separate contrast injection through perineal orifice. (
D
) Axial T2-weighted imaging (T2WI; pelvic magnetic resonance imaging [MRI]) demonstrating perineal lipoma (asterisk). Note the characteristic bending of the corpora cavernosa of the penis (thick white arrow), and the atrophy of the skeletal muscles of the hypoplastic right lower limb. (
E
) Axial T2WI (pelvic MRI) with fat suppression confirming the lipomatous nature of the perineal swelling (asterisk). Note: thick white arrow is pointing to corpora cavernosa of the penis.
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Perineal examination revealed a caudally positioned hypospadiac phallus with severe penoscrotal transposition ( Fig. 1A and B ). Distal colostogram demonstrated no communication with the urinary tract (imperforate anus without fistula) ( Fig. 1C ). A perineal swelling was located just beside the central perineal orifice which proved to be a lipoma on magnetic resonance imaging (MRI) ( Fig. 1D and E ). This case had other associated major anomalies: renal and testicular agenesis on the right side as well as poor lower limb development on the same side ( Fig. 1D ), asymmetrical lower vertebral dysplasia, and lipomyelomeningocele.
The second case: (
A, B
) Clinical examination of the perineum demonstrates the caudally displaced hypospadiac phallus and perineal swelling. Note: The presence of a single "central" perineal orifice anterior to the predestined site of the normal anus (double arrowhead line). (
C
) Contrast X-ray study: injection of contrast through distal colostomy demonstrating the rectum (R) communicating with the urethra to form a common perineal exit. (
D
) Mid sagittal T2-weighted imaging (pelvic magnetic resonance imaging) demonstrating the urinary bladder (UB) and rectum (R). Note the funneling and descent of the bladder neck in the pelvis down to the level of the lower end of pubic symphysis; also, the measured distance at which the rectum joins with the urethra is approximately 15 mm below the bladder neck. (
E, F
) Operative photos for posterior sagittal anorectoplasty and excision of perineal swelling (white arrow is pointing to stump after excision of perineal swelling).
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Perineal examination revealed similar anatomical derangement ( Fig. 2 ): single perineal orifice, caudally positioned hypospadiac phallus, severe penoscrotal transposition, in addition to a perineal swelling covered with mucous membrane. However, the urethral segment was too short (like the female urethra); and the bladder neck was still wide and was located at a lower level in the pelvis opposite the distal end of the pubic symphysis ( Fig. 2D ). At the age of 18 months, posterior sagittal anorectoplasty was performed to mobilize the rectum and reposition it backward within the sphincter muscle complex, in addition to excision of the perineal swelling ( Fig. 2E , F ).
Histopathological examination of the excised perineal swelling (case 2): (
A
) Polypoid lesion covered by keratinized stratified squamous epithelium with many anal ducts lined by transitional epithelium which are opening on the surface. The core contains multicystic spaces lined by different types of epithelium (
B
), mucin secreting glands, (
C
) with disorganized bundles of smooth muscles in between (
D
). Hematoxylin and eosin; original magnification: a and b (x40), c (x100) and d (x200).
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Histopathological examination of excised perineal swelling was compatible with hamartomatous polyp ( Fig. 3 ).