mixed movement disorders revealing an atypical form of creatine deficiency syndrome.

Mixed movement disorders revealing an atypical form of creatine deficiency syndrome

Fahmi Nasrallah, Hanene Benrhouma, Ichraf Kraoua, Gilbert Briand, Souheil Omar, Ilhem Turki Ben Youssef, Naziha Kaabachi 1 Department of Biology, School of Medicine, Laboratory of Biochemistry, Rabta Hospital, Jebbari, 1007 Tunis, Tunisia 2 Department of Child and Adolescent Neurology, School of Medicine, Mongi Ben Hmida Institute of Neurology, 1700 Tunis, Tunisia 3 Department of Biochemistry a...

Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

Movement Disorders Restless Legs Syndrome

The pathogenesis of idiopathic restless legs syndrome (iRLS) is not well established, but the most important hypothesis suggests dopaminergic dysfunction and iron deficiency. However, recent reports suggest a possible role for several neurotransmitters or neuromodulators, such as aspartate, glutamate, gamma-hydroxybutyric acid (GABA) and opiates, as well as relation with vitamin D deficiency. I...

An outbreak of atypical dermatophilosis mixed by Pseudomonas aeruginosa in a sheep herd after dipping

Dermatophilosis is a bacterial skin infection and wet conditions like, raining and dipping predispose sheep to it. A great economic loss can be caused by this disease because of its effect on the quality of wool. In Iran (near Saveh), there was an outbreak of the disease in a herd and the clinical manifestation was different from that of typical dermatophilosis. Diffuse wide alopecic area accom...

Creatine metabolism and disease Primary creatine metabolism disorders- Cerebral Creatine Deficiency Syndromes Cerebral Creatine Deficiency Syndromes (CCDS) are a group of disorders consisting of defects in proteins involved in creatine biosynthesis, AGAT and GAMT, and in its transporter, SLC6A8

The movement disorders of Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there shou...