Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

Isolated sulfite oxidase deficiency is a rare genetic neurometabolic disease. The first symptoms of this disorder (similar to symptoms of ischemic events) may lead to misdiagnosis and to subsequent birth of affected children in these families. This study characterizes the magnetic resonance (MR) imaging and (for the first time, to our knowledge) the MR spectroscopy features of isolated sulfite oxidase deficiency to provide a means for early and correct diagnosis. Three patients with isolated sulfite oxidase deficiency are studied who manifested intractable seizures and severe hypotonia in the immediate postnatal period with an unknown diagnosis, despite extensive workup. MR imaging and proton MR spectroscopy examinations were performed early in the neonatal period in 2 infants and after 5 months in the third infant. The prominent MR features were early cystic white matter damage, accompanied by profound cerebral atrophy in the third infant. Compared with hypoxic-ischemic disorder, MR findings in isolated sulfite oxidase deficiency demonstrate a more severe condition, without subsequent recovery. The MR spectroscopy studies indicate early onset of energetic and metabolic imbalance. Urine stick findings demonstrated high sulfite levels in 2 patients, and the final diagnosis was subsequently made based on molecular, biochemical, and genetic findings. Magnetic resonance imaging and MR spectroscopy measurements may help differentiate isolated sulfite oxidase deficiency from hypoxic-ischemic condition in patients in whom this diagnosis is not clinically suspected and may lead to further genetic antenatal inquiry that might prevent the birth of other infants affected with this severe and incurable congenital disease.

Meningismus is a commonly overlooked finding in tension-type headache in children and adolescents.

At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study population comprised 1738 patients aged 5 to 17 years who were examined in an outpatient neurologic clinic over a 6-year period. Particular attention was paid to examination of meningeal signs, including nuchal rigidity, Kernig's sign, Brudzinski's three signs (upper, middle, and lower), the "tripod" sign, and Guillain's and facial signs; the presence of these signs was regarded as meningismus syndrome. Some meningeal signs were found in 12% of 1007 children suffering from migraine, whereas 97% of 731 children with tension-type headaches had the whole set of meningeal signs. This suggested that meningismus is the major clinical syndrome in chronic tension-type headaches in children and adolescents. Chronic mild sterile (possibly autoimmune) inflammation of meninges (dura mater) can be caused by a preceding infection, as well as minor trauma of the head and/or back. Prolonged rest in a recumbent position usually resulted in relief or complete disappearance of both headache and meningeal signs. Monitoring of the meningeal signs is helpful for evaluation of the patient's condition in the course of treatment.

Neurofibromatosis diagnosed on CT with MR correlation.

We report a young man with asymptomatic neurofibromatosis type-1 initially diagnosed on CT. CT demonstrated the typical lesions of this disorder: extensive cervical, thoracic, abdominal and pelvic masses and spinal alterations. The symmetrical distribution and the location of the lesions as well as their attenuation are characteristic of NF-1 and may be considered diagnostic for this disease.