Tuberous sclerosis

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Q: What is the diagnosis? show answer

A: This patient has tuberous sclerosis.

Q: How do patients with tuberous sclerosis typically present? show answer

A: 1) Seizures (absent in 1/4 of individuals); 2) mental retardation (up to half of affected individuals have normal intelligence); 3) adenoma sebaceum (present in ~75% of patients). The full triad is only seen in ~30% of patients.

Q: What is the cause of tuberous sclerosis? show answer

A: Spontaneous mutations account for 50-86% of cases, with the remainder inherited as an autosomal dominant condition. In the majority of cases (80%) the mutation has been narrowed down to two tumour suppressor genes: TSC1 (chromosome 9q32-34) and TSC2 (chromosome 16p13.3).

Q: What lesions are the easiest to spot on MRI? show answer

A: Cortical and subcortical tubers are easily seen as regions of increased FLAIR signal.

Q: True or false: Are all subependymal hamartomas calcified? show answer

A: FALSE. The majority are calcified, but this is only true for older children and adults. As with all dystrophic calcification, it takes time, and as such in infants and young children calcification is not evident.

Q: What lesions are common in the kidneys of patients with tuberous sclerosis, and is this likely to be one? show answer

A: Angiomyolipomas are seen in 55-75% of patient with tuberous sclerosis and typically have this appearance - an echogenic nodule.

Q: How do the angiomyolipomas identified in tuberous sclerosis patients differ from those found sporadically in 'normal' patients? show answer

A: They tend to be multiple and bilateral.