Seronegative Antiphospholipid Syndrome with Anti-phosphatidylethanolamine Antibody in a Boy.

Antiphospholipid syndrome (APS) is an autoimmune disease caused by antiphospholipid antibodies. At our institution, APS is diagnosed on the basis of the Sapporo criteria, which consist of thrombosis and recurrent pregnancy-related complications and the following laboratory findings: the presence of lupus anticoagulant, anticardiolipin antibody, or anti-ß2 glycoprotein 1 antibody. However, we sometimes treat patients we strongly suspect of having APS but who do not satisfy the laboratory criteria. To accommodate such suspected cases, a subtype of APS termed seronegative APS has been proposed. Here, we report on a man with chronic thromobocytopenic purpura since the age of 3 years and multiple cerebral infarctions since the age of 14 years who finally received a diagnosis of seronegative APS with positive antiphosphatidylethanolamine antibodies.

Hydrocephalus with spontaneous regression in a 14-year-old girl.

We report on a 14-year-old girl with hydrocephalus that underwent spontaneous regression without any specific treatment, such as ventriculoperitoneal shunt surgery. A 14-year-old girl was referred to our hospital with severe headache, dizziness, nausea, and vomiting. Computed tomography and FLAIR-MRI findings on admission showed markedly dilated lateral, third and fourth ventricles with periventricular hyperintensity and downward displacement of the tonsils induced by dilatation of the fourth ventricle. We diagnosed hydrocephalus of unknown etiology. Although no specific treatment for hydrocephalus was performed, the symptoms gradually improved. One year after onset, the patient was completely free of neurological symptoms, and findings of physical examination and magnetic resonance imaging of the brain had returned to normal. The etiology of the spontaneous regression is unclear, but the following mechanisms are discussed: 1) rupture of ventricular diverticulum, 2) head injury causing skull-base fracture with leakage of cerebrospinal fluid, 3) extremely radiosensitive neoplasms diminished by X-p exploration, and 4) cerebrospinal fluid leakage due to lumbar puncture.

Identification of a novel biomarker candidate, a 4.8-kDa peptide fragment from a neurosecretory protein VGF precursor, by proteomic analysis of cerebrospinal fluid from children with acute encephalopathy using SELDI-TOF-MS.

BACKGROUND: Acute encephalopathy includes rapid deterioration and has a poor prognosis. Early intervention is essential to prevent progression of the disease and subsequent neurologic complications. However, in the acute period, true encephalopathy cannot easily be differentiated from febrile seizures, especially febrile seizures of the complex type. Thus, an early diagnostic marker has been sought in order to enable early intervention. The purpose of this study was to identify a novel marker candidate protein differentially expressed in the cerebrospinal fluid (CSF) of children with encephalopathy using proteomic analysis. METHODS: For detection of biomarkers, CSF samples were obtained from 13 children with acute encephalopathy and 42 children with febrile seizure. Mass spectral data were generated by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS) technology, which is currently applied in many fields of biological and medical sciences. Diagnosis was made by at least two pediatric neurologists based on the clinical findings and routine examinations. All specimens were collected for diagnostic tests and the remaining portion of the specimens were used for the SELDI-TOF MS investigations. RESULTS: In experiment 1, CSF from patients with febrile seizures (n = 28), patients with encephalopathy (n = 8) (including influenza encephalopathy (n = 3), encephalopathy due to rotavirus (n = 1), human herpes virus 6 (n = 1)) were used for the SELDI analysis. In experiment 2, SELDI analysis was performed on CSF from a second set of febrile seizure patients (n = 14) and encephalopathy patients (n = 5). We found that the peak with an m/z of 4810 contributed the most to the separation of the two groups. After purification and identification of the 4.8-kDa protein, a 4.8-kDa proteolytic peptide fragment from the neurosecretory protein VGF precursor (VGF4.8) was identified as a novel biomarker for encephalopathy. CONCLUSIONS: Expression of VGF4.8 has been reported to be decreased in pathologically degenerative changes such as Alzheimer's disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and encephalopathy. Thus, the VGF4.8 peptide might be a novel marker for degenerative brain conditions.

Fungal thoracic Spondylodiskitis in an immunocompetent 14-year-old girl.

Fungal spondylodiskitis (inflammation of intervertebral disk tissue and adjacent vertebrae) is rare, particularly in immunocompetent patients. Here, we report a case of fungal and bacterial thoracic spondylodiskitis in a 14-year-old girl with abdominal and back pain. The spondylodiskitis was diagnosed on the basis of the presence of beta-D glucan and the unusual clinical course, although cultures for fungus were negative. We conclude spondylodiskitis must be considered in cases of abdominal pain without clear etiology and in cases of fungal infection with unexplainable findings after standard treatment for bacterial infection, even when fungal cultures are negative.

Acute pancreatitis complicating typhoid fever in a 4-year-old girl.

Pancreatitis represents an extremely rare complication of typhoid fever. Herein we report the case of a 4-year-old Bangladeshi girl with acute pancreatitis caused by Salmonella typhi.

Urinary tract malformation and infection with hyperkalemia and decreased fractional excretion of potassium in an infant.

We describe an uncircumcised male infant treated for urinary tract infection who exhibited multiple hormonal and electrolyte abnormalities consistent with a diagnosis of transient pseudohypoaldosteronism. Successful treatment of the urinary tract infection was accompanied by the resolution of all hormonal and electrolyte abnormalities, including hyperaldosteronemia, hyperreninemia, hyponatremia and hyperkalemia. Radiographic examination revealed marked left dilatation of the renal pelvis and hydroureter but no vesicoureteral reflux. Owing to the possibilities of future renal scarring, decreased renal function, and hypertension, evaluation of urinary tract malformation and appropriate hormonal studies should be performed in infants with urinary tract infection and hyperkalemia.