Background: Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder involving many organ systems. The frequency of TS is around one per 5000 to 10 000 live births and is caused by mutation in the TSC1 or TSC2 genes. Autoimmune polyglandular syndrome type 2 (APS2) is an endocrinopathy characterized by two or more autoimmune diseases. Several susceptibility genes are known. The prevalence of APS2 is around 1:20 000.
Objective and hypotheses: To provide the first description of concomitant TS and APS2.
Method: Clinical and laboratory work up were done.
Results: The proband was born at term after IVF to a healthy mother and an unrelated father. Family history revealed that maternal grandmother had vitiligo and vitamin B12 deficiency. Pregnancy and neonatal period were uneventful. She had a slightly delay of language development. Due to family history and suspected lesions of vitiligo, her dermatologist had undergone workup revealing increased antithyroglobulin and antimicrosomal auto-antibodies and normal thyroid function tests. Our patient suddenly presented at 4 years of age partial complex epilepsy. On physical examination, she was well proportioned, with weight, height and head circumference in the normal range (9097thP). No goiter was found. She showed depigmented macula 12 mm on back and 5 cm on the leg (right thigh, buttock and calf) compatible with achromic hamartomas. MRI of the brain confirmed pathognomonic lesion of TS. Further work-up revealed increased anti-transglutaminase auto-antibodies and biopsy by gastroduodenoscopy confirmed celiac disease. She had no sign suggesting other autoimmune disease at this time. Genetic testing is in progress.
Conclusion: To our knowledge, this is the first report describing the association of TS and ASP2 in a patient. Due to the relatively high frequency of TS, this finding could be incidental. Long-term follow up is needed for both chronic diseases.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology