Diffusion-weighted imaging in Sydenham's chorea.

PURPOSE: The purpose of this study was to determine of caudate nucleus changes in diffusion-weighted magnetic resonance imaging. METHODS: A total of 13 children (four males and nine females) with history of Sydenham's chorea and 13 healthy controls were included in to the study. Diffusion cranial magnetic resonance imaging was performed in all subjects before prednisone treatment. Prednisone (2 mg/kg/day, maximum dose 60 mg/day) was used during 4 weeks and then progressively discontinued (20 % of the initial dose was reduced at each 5 days). Two months later, magnetic resonance imaging was repeated. RESULTS: Before and after 8 weeks of prednisone treatment, apparent diffusion coefficients (ADCs) were calculated for right and left caudate nucleus. The ADC values were significantly different before treatment and 2 months after imaging. For the left caudate nucleus, ADC values before treatment (0.69 ± 0.038) were significantly lower than after treatment (0.95 ± 0.04). For the right caudate nucleus, ADC values before treatment (0.72 ± 0.06 × 10(-3)) were significantly lower than after treatment (0.93 ± 0.04 × 10(-3)). CONCLUSIONS: Although cranial and caudate nucleus magnetic resonance imaging findings were normal, the low ADC value findings in our study support the autoimmune inflammation in basal ganglia of Sydenham's chorea.

Mycophenolate mofetil-induced pseudotumor cerebri in a boy with autoimmune lymphoproliferative disease.

INTRODUCTION: Pseudotumor cerebri (PTC) is a syndrome characterized with increased intracranial pressure, normal cerebrospinal fluid content (CSF), and a normal brain on imaging studies. In this case report, PTC has been linked to mycophenolate mofetil (MMF) that has been used for autoimmune lymphoproliferative syndrome (ALPS). CASE REPORT: A 5-year-old boy, who was using MMF for 4 months because of the ALPS, suffered from occipital headache and vomiting with no other symptom. The initial physical examination was normal expect bilateral papilledema. The patient underwent a lumbar puncture which showed elevated opening pressure (590 mmH2O) but no laboratory abnormalities of the CSF. A diagnosis of PTC was established. MMF was stopped, and the child was started on an acetazolamide treatment for 2 weeks. His symptoms and complaints recovered after this treatment. DISCUSSION: According to our knowledge, we report the first case of MMF-induced PTC in a boy with ALPS. This case illustrates that despite the rarity of MMF-induced PTC, the physicians should be aware of this possibility. Furthermore, in the setting of new-onset headaches or visual changes, early ophthalmologic examination for papilledema is recommended for early diagnosis.

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.

Detection of human parvovirus B19 in children with acute hepatitis.

Parvovirus is a rare cause of acute hepatitis. Two children with non A-E acute hepatitis in whom human parvovirus B19 was detected by PCR are reported.