Development Regression, Neurocutaneous Disorders and Tuberous Sclerosis

by Carlo Raj, MD

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    Developmental regression: Loss of previously attained developmental milestone. So we’re going back from that milestone, back towards a primitive type of behavior. Almost always has a bad prognosis, keep that in mind. Onset age, before 2. Here, you might be thinking about mitochondrial disorders including your mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms. Hypothyroidism, cretinism. Neurocutaneous disorders such as neurofibromatoses. And gray matter disorder. Remember, bad prognosis. Onset before age of two. White matter disorder, metachromatic leukodystrophy. Amino acid metabolism such as PKU or phenylketonuria. And enzymatic disorders. These are developmental regression. Clinical pearl, bad prognosis, here, referring to those differentials before the age of 2. The neurocutaneous disorders that we’ll walk through quickly. It’s called tuberous sclerosis complex. Not tuberculosis, but tuberous sclerosis. This is an inherited, hereditary issue. Neurofibromatosis, specially we have neurofibromatosis type 1, which is known as your neurofibromin protein or neurofibromin 1 protein. And with this, you’ve heard of Café au lait spots and so on and so forth. Sturge-Weber. In vascular pathology, with Sturge-Weber, you’ve talked about port wine syndrome. Remember with Sturge-Weber, it’s a problem with the leptomeningeal blood vessels, and therefore may result in new onset seizure in this patient. Familial telangiectasia or you’ve heard of hereditary, hemorrhagic telangiectasia, Osler–Weber–Rendu. Von Hippel-Lindau disease. Remember with Von Hippel-Lindau disease, you could have bilateral renal cell carcinoma in a very young patient. Along with this, there could be hemangioblastomas of the cerebellum and the retina. And we have incontinentia pigmenti. And ataxia telangiectasia. Let’s talk about tuberous sclerosis. Autosomal dominant disorder To begin with, please understand that this has nothing to do with an infection. Incidence: 1 in 10,000. There are two gene loci. You have TSC1 on chromosome 9. Please memorize hamartin. Now, with hamartin, you can play with that a little bit...

    About the Lecture

    The lecture Development Regression, Neurocutaneous Disorders and Tuberous Sclerosis by Carlo Raj, MD is from the course Pediatric Neuropathology. It contains the following chapters:

    • Developmental Regression
    • Neurocutaneous Disorders
    • Tuberous Sclerosis

    Author of lecture Development Regression, Neurocutaneous Disorders and Tuberous Sclerosis

     Carlo Raj, MD

    Carlo Raj, MD

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