Waardenburg Syndrome and hirschsprung Disease in a child: A case report

Introduction: Waardenburg Syndrome (WS) type IV or Waardenburg-Shah Syndrome (WSS) is a genetic disorder characterized by sensorineural hearing loss, pigmentary defects of the hair and skin, heterochromia of the eyes, and Hirschsprung Disease (HD). There are three other forms of WS, none of which include HD. Case presentation: A 7-year-old female born to non-consanguineous parents presented to our clinic with a history of chronic constipation. She had a white forelock on the frontal aspect of the head and multiple depigmented macules on the chest and lower extremities. She also had sensorineural hearing loss. On the physical exam, her abdomen was distended but soft and non-tender. The digital rectal exam was unremarkable. Plain film of the abdomen showed dilated bowel loops. She underwent a contrast enema that showed a narrow rectum and a dilated sigmoid colon. She subsequently underwent a rectal biopsy, which confirmed the diagnosis of HD. The combination of all the features confirmed the diagnosis of WSS. She underwent a laparotomy-assisted trans-anal pull-through, from which she recovered uneventfully. Conclusion: The possibility of WSS must be considered when a patient with HD presents depigmented lesions in the body and hearing loss

Cerebral venous sinus thrombosis with hemorrhagic infarct: A rare presentation in a risk-defying male patient

Cerebral venous sinus thrombosis (CVST) is a rare but critical cerebrovascular condition characterized by clot formation in cerebral veins or sinuses. We present a case of a 30-year-old male with CVST, an atypical presentation of right-sided weakness and sudden loss of consciousness. While CVST typically manifests as severe headaches and neurological deficits, our patient's unique symptoms pose diagnostic challenges. Advanced imaging techniques, including MRI with venography, played a pivotal role in confirming the diagnosis. Treatment involved anticoagulation therapy and resulted in a favorable outcome. This case highlights the importance of considering CVST in patients with unusual neurological symptoms and the crucial role of early diagnosis and intervention. Advances in diagnostic modalities and treatment options have significantly improved outcomes in CVST patients, emphasizing the need for timely recognition and management

Malignant rectal GIST managed with chemotherapy (Imatinib Mesylate): A case report and a comprehensive review

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors involving the gastrointestinal tract, arising from the interstitial cells of Cajal. GIST comprises about 1% of all GI tumors. Rectal GISTs are rare and comprise of approximately 5% of all GISTs and only 0.1% of rectal tumors are found to be GISTs. Rectal GISTs may be diagnosed incidentally or present with symptoms, including defecation problems, bleeding, and/or pain. We report a case of a 46-year-old male with rectal GIST metastasized to the liver and bilateral lung parenchyma managed by Imatinib Mesylate (IM) regimen. Rectal GIST although being rare, must be considered as a differential diagnosis in a patient presenting with defecatory problems with bleeding