ESPE Abstracts (2014) 82 P-D-3-3-647

Autoimmune Disease and Arnold Chiari Syndrome: Any Correlation?

Federica Ortolania, Albina Tummolob, Stefania Fedelea, Maristella Masciopintoa, Sabino Pescea, Francesco Papadiaa, Domenica Cornacchiac, Arianna Labbatec, Marcella Vendemialec & Elvira Piccinnoc


aMetabolic Diseases, Clinical Genetics and Diabetology, Pediatric Hospital Giovanni XXIII, Bari, Italy; bUOC Hereditary Metabolic Diseases, Azienda Ospedaliera Policlinico di Padova, Padova, Italy; cClinical Psychology, Pediatric Hospital ‘Giovanni XXIII’, Bari, Italy


Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.

Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. Healthy father, mother diagnosed with type 1 Arnold Chiari at 41 years old and Hashimoto’s thyroiditis treated with levothyroxina, 25-year-old brother with Raynaud syndrome and type 1 Arnold Chiari, 19-year-old sister with celiac disease, Raynaud syndrome and type 1 Arnold Chiari. Reported parental familiarity with type 1 diabetes mellitus. Since the age of 11, M.V. complained frontal-occipital headache, nausea, photophobia, sonophobia, tinnitus, hypoglycemic episodes, cervical pain, hand paresthesia, lumbalgias irradiating into both thighs, diplopia, and equilibrium problems. NMR confirmed herniation of cerebellar tonsils and rise of the medullary cone between L1 and L2. Like her mother, brother and sister, M.V. underwent section of the filum terminale at ‘Institut Chiari e Siringomielia e Escoliosis De Barcelona’. Total relief of symptoms following surgery. After few months polyuria, polydipsia, 3 kg weight loss. Diagnosis of type 1 diabetes mellitus (HbA1c 13.2%, positive GAD). Negative serology for celiac disease (homozygous DR3-DQ2). Normal thyroid function, negative thyroid autoantibodies. Actually good metabolic control (HbA1c ≤6.1%), multiple daily insulin injections.

Case 2 description: D.H., on term first born, caesarean section, non complicated pregnancy. Healthy parents and younger sister. Not reported familiarity for any autoimmune disease. Diagnosed with autoimmune thyroiditis and type 1 diabetes mellitus at the age of 10 years, actually in good metabolic control. Brain NMR performed few months earlier for persistent headache underlined type 1 Arnold Chiari malformation.

Conclusion: In literature there are still no clear evidences about a correlation between Arnold Chiari and autoimmune diseases, but we really think it is important to focus our attention on this.

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