Table 2.
Differential diagnosis table of neuroimaging features of Oculocerebrorenal syndrome of Lowe (OCRL).
| Cloacal Exstrophy | Bladder Exstrophy | Omphalocele | Gastroschisis | |
|---|---|---|---|---|
| X-ray | Markedly wide pubic diastasis. Markedly increased iliac wing angle. |
Wide pubic diastasis. Increased iliac wing angle. |
N/A | N/A |
| US | Possible hydronephrosis due to VUR. | Possible hydronephrosis due to VUR. | N/A | N/A |
| CT | Exposed bladder plate and gut. GU and GI abnormalities. Neurospinal defects. |
Exposed bladder plate. GU and GI abnormalities. |
Extruded gut | Extruded gut |
| MRI (T1) | GU and GI abnormalities. Neurospinal defects. Abnormal pelvic floor musculature. |
GU Abnormalities. Abnormal pelvic floor musculature. |
N/A | N/A |
| MRI (T2) | GU and GI abnormalities. Neurospinal defects. Abnormal pelvic floor musculature. |
GU Abnormalities. Abnormal pelvic floor musculature. |
N/A | N/A |
| Pattern of Contrast Enhancement | Contrast is not necessary in the evaluation of this congenital anomaly. | Contrast is not necessary in the evaluation of this congenital anomaly. | Contrast is not necessary. | Contrast is not necessary in the evaluation of this congenital anomaly. |
Abbreviations: (CBC) Complete Blood Count; (FLAIR) Fluid attenuated inversion recovery; (CK) creatine kinase; (NAA) N-acetyl aspartate; (VLCFA) very long chain fatty acid