ABSTRACT
We report a case of neonatal dural sinus malformation already visible on antenatal ultrasound. This is a rare disease entity in infants and children. Clinical diagnosis was made by demonstrating a cranial murmur on auscultation; macrocrania and signs of progressive cardiac failure. Imaging studies as cerebral ultrasound, postnatal MRI scan and MR angiography demonstrated a large dural sinus malformation originating from the sagittal sinus with extensive arteriovenous fistulae. Due to the extent of the lesion, the existing ischemic brain damage and involvement of the torcular, no therapeutic options were available and the child died of irreversible cardiac failure. The diagnosis was confirmed with autopsy. We discuss the clinical presentation, imaging and neuropathological results and relate our findings to embryological data and the existing literature.
Subject(s)
Central Nervous System Vascular Malformations , Cranial Sinuses/pathology , Central Nervous System Vascular Malformations/diagnostic imaging , Central Nervous System Vascular Malformations/pathology , Central Nervous System Vascular Malformations/physiopathology , Humans , Infant, Newborn , Magnetic Resonance Angiography , Magnetic Resonance Imaging , RadiographyABSTRACT
Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.
Subject(s)
Adaptor Proteins, Vesicular Transport/deficiency , Adaptor Proteins, Vesicular Transport/genetics , Biological Transport , Brefeldin A/pharmacology , Consanguinity , Endoplasmic Reticulum/metabolism , Female , Fibroblasts/drug effects , Fibroblasts/metabolism , Humans , Kinetics , Morocco/ethnology , N-Acetylneuraminic Acid/metabolism , Polysaccharides/metabolismABSTRACT
OBJECTIVE: Local steroid injections are used for treatment for the carpal tunnel syndrome (CTS). Study of changes in neurophysiological parameters after such treatment for idiopathic CTS might be a supportive argument for the effectiveness of steroid treatment. METHODS: Twenty-one patients with CTS were included and evaluated before and at 1, 3 and 6 months after treatment. At the inclusion date patients received a single 1 ml local steroid injection. Various electrophysiological tests were used. For clinical evaluation, we used the Boston Carpal Tunnel Questionnaire (BCTQ) and the General Outcome Score. RESULTS: The mean nerve conduction parameters had significantly improved at 1 month, except the SNAP4 and CMAP. This improvement was still present at 3 months. At 6 months follow-up, the improvement in the SDL4, SNAP4, M-U, DML and CMAP remained significant. In 6 patients (29%), the nerve conduction parameters normalized and remained so until the end of the study. The BCTQ and the General Outcome Score significantly improved as well. However, there was no correlation between the electrophysiological data, the BCTQ and the General Outcome Score. CONCLUSIONS: The improvements of nerve conduction parameters independently support the ideas on effectiveness of steroid injection therapy in CTS.
