Congenital thrombotic thrombocytopenic purpura masquerading as vitamin B12 deficiency.

INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure. CASE REPORT: We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay. CONCLUSION: This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay.

A misdiagnosis of choledochal cyst type IB and recommendation to use gold-standard imaging techniques: A case report.

A choledochal cyst (CC) is a rare congenital dilation of the biliary ductal system that can cause troublesome complications when left untreated. CC in children classically manifests as a rare triad of the right upper quadrant mass, jaundice, and abdominal pain. Here, we report the case of an eight-year-old boy seen in Paediatric Unit I of Dr Ruth K. M. Pfau Civil Hospital Karachi, Pakistan, on October 9, 2019, who was initially misdiagnosed for liver abscess due to the non-specific symptoms and managed appropriately with antibiotics, which failed to improve the symptoms. Moreover, a hydatid cyst was considered based on ultrasonography (USG) which was later ruled out by the negative serology. A definitive diagnosis of CC was established on magnetic resonance cholangiopancreatography (MRCP). In resource-limited countries, USG is always the first line screening tool for biliary duct abnormalities which in some cases is comprehensibly enough for the diagnosis of a rare entity like CC, thus requiring a highly specific imaging test like MRCP to be performed to devise an effective treatment and surgical plan.