ABSTRACT
X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms such as yes/yes head tremor, scanning dysarthria, pronounced dysmetria and intention tremor, without any abnormalities of the cerebellum in MRI, in addition to XRI proven by molecular genetics. Furthermore, the patient suffered from anxiety disorder, depression, and a male pattern baldness. One of the patient' s brothers and a nephew showed a similar clinical presentation. Because of the fact that several members of the patient's family suffered from similar symptoms, we consider a syndromic link between XRI and cerebellar disorder to be possible.
Subject(s)
Cerebellar Ataxia/complications , Cerebellar Ataxia/psychology , Ichthyosis, X-Linked/complications , Ichthyosis, X-Linked/psychology , Mental Disorders/complications , Mental Disorders/psychology , Alopecia/etiology , Anxiety/etiology , Anxiety/psychology , Blood Chemical Analysis , Cerebellar Ataxia/genetics , Depression/etiology , Depression/psychology , Diabetes Mellitus, Type 2/complications , Humans , Ichthyosis, X-Linked/genetics , Intellectual Disability/genetics , Intellectual Disability/psychology , Magnetic Resonance Imaging , Male , Mental Disorders/genetics , Middle Aged , Pedigree , Tremor/etiologyABSTRACT
We report on a 19-year-old patient without any immunodeficiency and without a history of significant diseases in whom two seizure attacks as symptoms of meningoencephalitis occurred after he had suffered from abdominal symptoms for a week. Later, we could observe frequent polymorphic ventricular extrasystoles. A massive production of anti-Yersinia IgM, IgG and IgA as a sign of an acute infection could be found, although we were not able to detect the microbe itself with culturing methods. After targetted antibiotic treatment, the patient fully recovered within two weeks and could be discharged from hospital without clinical abnormalities and an almost normalised cell count in the cerebrospinal fluid. Possible ways of infection are mice which the patient kept as pets and his work in the sewer system. The present case reminds us to think of uncommon infectious agents even in young patients without a predisposition but unusual symptoms and/or potentially relevant anamnestic data.