A case of late orthostatic headache secondary to lumbar hidden dural fistula 20 months after epidural anesthesia.

The clinical recognition of CSF fistula is a clinical challenge. We report the case of a young woman, who presented with a late orthostatic headache 20 months after epidural anesthesia. She developed a lumbar dural fistula of CSF confirmed in myelography CT scanning and treated successfully with epidural blood patch.

Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1.

Glutaric aciduria type 1 is an autosomal recessive disorder caused by deficiency of glutaryl-coenzyme A dehydrogenase, with accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Increased blood glutarylcarnitine levels are the basis for identification of affected infants by newborn screening. Despite the highly variability, this disease usually presents with an acute encephalitis-like encephalopathy in infancy or childhood after a period of normal development. The characteristic neurological sequel is a complex movement disorder due to acute bilateral striatal injury. Frequently, the only abnormality preceding the first episode is a progressive macrocephaly. Although neuroimaging findings are quite variable, the widening of the Sylvian fissures combined with abnormalities of the basal ganglia in a child with macrocephaly should raise the suspicion of this diagnosis. We describe two patients in whom macrocephaly was the only presenting symptom and whose diagnosis was suggested by the brain MRI findings. Our purpose is to illustrate the clinical value of neuroimaging in the diagnosis of glutaric aciduria type 1 even before the onset of neurologic symptoms, which is particularly important if newborn screening is not available.

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive diseases among the Japanese population, due to a founder mutation of the fukutin gene (FKTN). Mutations in FKTN are now being described in an increasing number of non-Japanese patients. We report a Portuguese child with FCMD. The diagnosis was supported by clinical, histological, magnetic resonance imaging (MRI) and genetic studies. Genetic analysis of FKTN by Multiplex Ligation Probe Amplification (MLPA) revealed a homozygous duplication from exon 4 to exon 7. This in-frame duplication was confirmed by cDNA analysis. To our knowledge this is the first report of a FCMD case caused by an intragenic gross exonic duplication in the FKTN gene. This report widens the clinical and mutational spectrum in FCMD and corroborates the importance of screening for large deletions and duplications in CMD patients.

Superficial siderosis of the central nervous system.

Superficial siderosis of the central nervous system (CNS) is a rare entity characterized by the deposition of hemosiderin in the leptomeninges. In most cases it is caused by chronic and recurrent bleeding into the subarachnoid space as a subclinical form and for long periods of time. The cases described in the literature are associated with tumors, aneurysms, arteriovenous malformations, changes in post-surgical, traumatic cervical and brachial plexus injuries. However, the cause of bleeding is unclear in 40-50% of cases. This report describes the case of a 38-year-old man with a history of trauma with a complete lesion of the left brachial plexus. The patient presented progressively worsening gait imbalance, bilateral deafness, tinnitus and memory loss over two years. Neurological examination disclosed bilateral hearing loss, left upper limb plegia with atrophy of muscle mass, spastic paraparesis with pyramidal signs and gait ataxia. The analytical/genetic study was consistent with hereditary hemochromatosis. In addition to typical findings of siderosis, MR disclosed pseudomeningocele while CT angiography and angiography revealed an aneurysm of the internal carotid artery. Although rare, we should be aware of superficial siderosis especially in imaging studies in patients with deafness or ataxia and in those with lesions of the brachial plexus. The imaging signals are subtle and can easily go unrecognized. The radiological investigation must be extensive to find the primary cause.