Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications.

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1 is a 13-year-old girl with bilateral renal AML (angiomyolipoma), multiple fat nodules in the liver, and subependymal nodules with tubers revealed in the brain magnetic resonance imaging (MRI). Case 2 is her brother, a 6-year-old boy, who presented with manifestations of subependymal giant cell astrocytoma (SEGA) and renal AML. TSC must be managed with early diagnosis and intervention due to the risk of hamartoma enlargement. These 2 cases found in siblings underline the varied clinical presentations of TSC and the complexities faced by families with TSC. Early diagnosis is important to avoid TSC-related complications because, as time goes by, the disease will impact the patient's quality of life and increase morbidity and mortality. This case series also highlights the advantages of dermatological screening for the early detection of TSC, family screening, the need for multiple imaging modalities and counseling of family members with TSC, as well as the need for ongoing follow-up of this rare disorder.

Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm.

Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.