Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.

Corpus callosal agenesis (CCA) is a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, a structure crucial for interhemispheric communication. CCA can occur in isolation or be associated with other anomalies such as heterotopia, holoprosencephaly, cerebellar hypoplasia, coloboma, and hydrocephalus. The prevalence of CCA ranges from 0.020% to 0.025%, though some reports suggest higher rates. This case report describes a 1-year-old male with developmental delays and no significant antenatal or family history. MRI revealed a complete absence of the corpus callosum, asymmetrically dilated lateral ventricles, subependymal gray matter nodules suggestive of gray matter heterotopia, and bilateral posterior globe defects with vitreous herniation, indicating severe ocular anomalies. The child received supportive care including physical therapy and special education services, with regular follow-ups for developmental and ophthalmologic evaluation. This case report details the rare occurrence of CCA, accompanied by gray matter heterotopia and bilateral posterior eye coloboma in a pediatric patient. The combination of these congenital anomalies presents unique diagnostic and management challenges requiring multidisciplinary care. We discuss the clinical presentation, radiological findings, and implications for supportive care and improving the prognosis.

Retrocaval ureter presenting with hydronephrosis: A case report of rare entity in Nepal.

Hydronephrosis, characterized by the dilation of the renal pelvis and calyces, often results from obstructive uropathy, commonly due to ureterolithiasis. However, rare congenital anomalies, such as a retrocaval ureter (RCU)-where the ureter passes behind the inferior vena cava- can also cause hydronephrosis. This case report describes an 11-year-old male presenting with right-sided flank pain and hematuria. Initial ultrasonography and noncontrast CT revealed right hydronephrosis without ureteral stones. Subsequently, contrast-enhanced CT urography found an abnormality in the course of the right ureter behind the inferior vena cava. He was diagnosed with right retrocaval ureter with hydronephrosis, and managed by surgical resection of the retrocaval segment and uretero-ureteral anastomosis. The postoperative course was uneventful. RCU usually presents in the third or fourth decade of life, however, it should be in the differential diagnosis of hydronephrosis in the pediatric population. The diagnosis of RCU is often delayed and missed till advanced imaging like CT urography is sought for unexplained hydronephrosis. If left untreated, it may lead to chronic renal failure. Therefore, emphasis should be placed on timely diagnosis and management of retrocaval ureter.

Uncommon presentation of Rosai-Dorfman disease: Nasal and nasopharyngeal involvement: A case report and discussion.

This study presents a rare case of Rosai-Dorfman disease (RDD) with nasal and nasopharyngeal involvement, illustrating the complexities in diagnosing this enigmatic histiocytic disorder. RDD, characterized by massive, painless cervical lymphadenopathy, poses diagnostic challenges due to its diverse clinical presentations. In this case, a 38-year-old woman presented with a year-long history of neck swellings, nasal congestion, headaches, and sinusitis-like symptoms. Radiological imaging and histopathological examination revealed RDD involvement in the nasopharynx and paranasal sinuses. RDD diagnosis was confirmed through immunohistochemistry. The patient's unique symptoms emphasize the importance of considering RDD in the differential diagnosis of sinonasal masses with recurrent or unusual complaints. This case underscores the need for increased awareness, multidisciplinary management, and further research to enhance understanding and treatment of RDD, especially in extranodal presentations.

Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of corpus callosum (AVID) - case report.

AVID (Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of corpus callosum) spectrum is a rare phenomenon as such in its whole and the defects are not exclusive to the condition. Each may occur in isolation or together and have characteristic clinical and imaging findings. The vast array of mimics coexisting with the condition makes it a harder diagnosis to make and requires a great length of experience and observation which may explain the limited recordings of AVID. Sonography and fetal magnetic resonance imaging goes a long way and provide accurate diagnosis ruling out the mimics and aiding in prenatal visualization of the defects. Accurate diagnosis aids in effective management and counseling regarding outcomes and the potential timeline of the severity of the symptoms. In its rarity, this case report of AVID is one of the first report of its kind reported from Nepal.