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Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

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Published on: March 24, 2023

The ominous sequence in patients with tuberous sclerosis complex.

Hiroshi Yamada¹, Kensuke Akiyoshi¹, Tatsuro Izumi¹

¹Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.

Brain & Development

|May 8, 2013

Summary

A specific sequence of tuberous sclerosis complex (TSC) symptoms, including severe kidney and facial tumors, epilepsy, and intellectual disability linked to TSC2 gene mutations, indicates a poor prognosis.

Keywords:

Angiomyolipomas TSC1 TSC2 Tuberous sclerosis complex West syndrome

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Area of Science:

Genetics
Neurology
Oncology

Background:

Tuberous sclerosis complex (TSC) presents with variable clinical phenotypes and severity, often not solely determined by the primary mutation.
This variability complicates treatment selection and outcome prediction for TSC patients.
Identifying prognostic markers is crucial for managing TSC.

Purpose of the Study:

To evaluate a specific sequence of clinical manifestations and associated gene mutations as potential prognostic indicators in tuberous sclerosis complex.
To correlate specific renal lesions and other clinical features with disease severity and outcomes.

Main Methods:

Patients with TSC were classified based on renal lesions (angiomyolipomas, polycystic disease).
Clinical manifestations including epilepsy, mental retardation, facial angiofibromas, subependymal giant cell astrocytoma, and cortical tubers were reviewed.
Gene mutations were analyzed in seven unrelated patients.

Main Results:

Two patients with multiple, large, proliferative renal angiomyolipomas exhibited poorer clinical outcomes.
These patients also presented with progressively proliferative facial angiofibromas, West syndrome, Lennox-Gastaut syndrome, severe mental retardation, and subependymal giant cell astrocytoma.
These severe cases were associated with TSC2 gene mutations.

Conclusions:

A sequence involving progressively proliferative renal angiomyolipoma, facial angiofibroma, West syndrome, and TSC2 gene mutations appears to be a significant prognostic indicator.
This specific combination of clinical features and genetic mutation may signify an ominous clinical course in TSC.