A child presented to the emergency depament with seizures. On examination oval hypopigmented macules were noted on the trunk, along with sub-normal IQ. What is the probable diagnosis?
Essentials of Diagnosis & Typical Features of Tuberous sclerosis: Facial angiofibromas or subungual fibromas. Often hypomelanotic macules, gingival fibromas. Retinal hamaomas. Coical tubers or subependymal glial nodules, often calcified. Renal angiomyolipomas. Seizures are the most common presenting symptom. Up to 20% of patients with infantile spasms (a serious epileptic syndrome) have tuberous sclerosis. Ninety-six percent of patients have one or more hypomelanotic macules, facial angiofibromas, ungual fibromas, or shagreen patches. Adenoma sebaceum, the facial skin hamaomas, may first appear in early childhood, often on the cheek, chin, and dry sites of the skin where acne is not usually seen. Mental retardation occurs in up to 50% of patients referred to teiary care centers; the incidence is probably much lower in randomly selected patients. Patients with seizures are more prone to mental retardation or learning disabilities. Diagnostic studies: More helpful is MRI or CT scanning; the latter can show the viually pathognomonic subependymal nodular calcifications and sometimes widened gyri or tubers and brain tumors. Contrast material may show the often classically located tumors near the interventricular foramen. Hypomyelinated lesions may be seen with MRI. Ref: Bernard T.J., Knupp K., Yang M.L., Kedia S., Levisohn P.M., Moe P.G. (2012). Chapter 25. Neurologic & Muscular Disorders. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
Neurofibromatosis
Sturge Weber
Tuberous sclerosis
Incontinentia Pigmenti