Diagnosis: Tuberous sclerosis complex (TSC) with lymphangioleiomyomatosis (LAM)

History: 28 yo woman with history of seizures between 13 months- 12 years of age. Complaints of rare episodes of hemoptysis and 2 previous episodes of pneumothoraces in the same month. Surgical history includes mechanical pleurodesis and kidney embolization. Mother also diagnosed with the same disease.

Findings: 1. Cortical tubers: MRI T2 axial showing high signal cortical lesions; 2. Subependymal tumors: MRI T2 axial showing subependymal calcifications in left and right lateral ventricles 3. Subependymal tumors: MRI T1 sagital showing high signal subependymal nodules. 4. Renal angiomyolipoma: Non-enhanced axial CT of the abdomen showing multiple renal lesions bilaterally; Attenuation equivocal to fat surrounding torso. 5. Small lung cysts (lymphangioleiomyomatosis): A high-resolution axial CT of the chest showing numerous bilateral well defined, thin walled cysts

Ddx: Kidney findings: Polycystic Kidney Disease, Wilm’s tumor, Renal Cell Carcinoma, Angiolipoma Lung Findings: Emphysema, Bronchiectasis, Cystic fibrosis, Skin Findings: Acne, Hypopigmented nevus, Sebaceous adenoma Brain Findings: Ependymoma, Gliomas, Glioblastoma multiforme, Craniopharyngioma, Astrocytoma

Dxhow: Radiologic and cutaneous findings

Exam: Temp 36.4, BP 122/77, P 80, RR 18 at 99% RA. Skin: Multiple facial angiofibromas. Multiple ash-leaf hypo-melanotic maculess on torso and extremities. Nails: Multiple nodular fleshy lesions scattered on digits—adjacent to and underneath nails; Rest of physical exam within normal limits Labs: pending