ABSTRACT
UNLABELLED: A new case of tubulo-interstitial nephritis and uveitis (TINU) syndrome in a 14-y-old girl is described. In this patient unilateral mastitis was an associated feature. The aetiology of this rare syndrome, the prognosis for which is usually good, is still unknown. The most common theory supports a cell-mediated immune response induced by infectious/antigenic stimuli. CONCLUSION: The presence of acute unilateral mastitis in this patient may represent an additional localization in TINU syndrome.
Subject(s)
Mastitis/complications , Nephritis, Interstitial/complications , Uveitis/complications , Adolescent , Female , Humans , Mastitis/drug therapy , Nephritis, Interstitial/pathology , Syndrome , Uveitis/drug therapyABSTRACT
The authors present the case of a 14 year old child who was successfully treated by pulmonary decortication with video-assisted thoracoscopy. Thoracoscopy caused less postoperative pain then open thoracoscopy, although it allows visualization of the entire pleural cavity. In our opinion an early use is indicated.
Subject(s)
Lung/surgery , Tuberous Sclerosis/surgery , Adolescent , Empyema/complications , Endoscopy/methods , Epilepsy, Tonic-Clonic/complications , Female , Humans , Radiography, Thoracic , Thoracoscopy , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnostic imaging , Video RecordingABSTRACT
We describe two siblings with Sotos syndrome, probably inherited from their father. The diagnosis was made early in both children, who presented psychomotor delay from early on as well as a strikingly similar phenotype (macrocrania, coarse face, accelerated growth). The prolonged follow-up of both children shows severe but non progressive motor and language developmental delay, followed by improvement with age in the girl. This improvement is also expected for the boy, who shows identical development. The expressive language delay present in both children may be explained by oral apraxia rather than mental handicap. The progressive motor and mental improvement, which can occasionally reach normal level in adults, and the tendency toward phenotypic normalization could explain the difficulty in making a definite diagnosis in adults and thus in defining the pattern of inheritance.
Subject(s)
Gigantism/genetics , Adult , Child , Child, Preschool , Female , Follow-Up Studies , Gigantism/diagnosis , Humans , Infant , Infant, Newborn , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Longitudinal Studies , Male , Phenotype , SyndromeABSTRACT
A case of an 8-year-old boy with recurrent migraine auras without headache, precipitated by minor head trauma, is reported. Aura was characterized, besides other brain-stem signs, by confusional state. An uncommon electroencephalographic pattern recorded during the episodes, characterized by diffuse continuous beta activity, is described. Recognition of this finding may prevent an inappropriate diagnosis of drugs ingestion.
Subject(s)
Electroencephalography , Migraine Disorders/complications , Sensation Disorders/etiology , Sensation Disorders/physiopathology , Child , Craniocerebral Trauma/complications , Humans , Male , RecurrenceABSTRACT
Moyamoya is an obstructive cerebrovascular disease characterized by a cerebral angiographic picture of stenosis or occlusion of main cerebral arteries with an abnormal vascular network at the base of the brain. No definitive cause has been found for this disease and opinion is still divided between a congenital and an acquired etiology. Hemiplegia of sudden onset and epileptic seizures are the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. We report a new case of childhood moyamoya with clinical onset of the neurological symptoms within the 3rd year of life; during the child's illness the maternal grandmother presented with moyamoya disease too. Antiaggregating and calcium-antagonist drugs seem effective in preventing further vascular accidents, while a surgical approach is not possible. Computed tomography, single positron emission computed tomography, and magnetic resonance imaging are very useful in the diagnosis of this rare disease.
Subject(s)
Moyamoya Disease/genetics , Atrophy , Carotid Stenosis/diagnosis , Carotid Stenosis/genetics , Cerebral Angiography , Cerebral Cortex/pathology , Cerebral Infarction/diagnosis , Cerebral Infarction/genetics , Child, Preschool , Humans , Magnetic Resonance Imaging , Male , Moyamoya Disease/diagnosis , Neurologic ExaminationABSTRACT
The determination of glomerular or non-glomerular origin of urinary red blood cells (U-RBC) is an important goal in the management of haematuric children. Morphological changes of glomerular RBC are secondary to cell membrane damage, due, in part, to the hypotonic osmotic stress to which U-RBC are submitted during their passage through tubular segments. This study was performed on 2 urine specimens obtained from 30 patients with a known cause of haematuria. After centrifugation, both sediments were resuspended in two saline solutions (at 200 mosm/l and at 300 mosm/l) where they remained for 90 min. The number of U-RBC per microliters in each (U-RBC 200 and U-RBC 300) was determined by microscopic count in Burker's chamber. The U-RBC 200/U-RBC 300 ratio was calculated for all patients. We found that in non-glomerular haematuria the ratio was near to 1, whereas cases of glomerular origin had lower values. The discriminant threshold between this ratio was 0.76 (p < 0.001). We suggest that determination of osmotic resistance of U-RBC may be a reliable method to differentiate the origin of bleeding in haematuric children.
Subject(s)
Erythrocytes/metabolism , Hematuria/metabolism , Child , Child, Preschool , Hematuria/etiology , Hemorrhage/complications , Humans , In Vitro Techniques , Kidney Diseases/complications , Kidney Glomerulus/blood supply , Osmotic PressureABSTRACT
Two children with extensive ileal resection are reported. They developed gross haematuria of "non-glomerular origin", without stones or nephrocalcinosis. Previous reports indicate that acquired hyperoxaluria is common in children with a variety of intestinal disorders. Our patients had hyperoxaluria. We think that hyperoxaluria may be the cause of haematuria through a pathogenetic mechanism similar to the one ascribed to haematuria secondary to hypercalciuria and hyperuricosuria.
Subject(s)
Hematuria/etiology , Hyperoxaluria/etiology , Adolescent , Child, Preschool , Female , Humans , Hyperoxaluria/complications , Ileum/surgery , Male , Postoperative Complications/etiologyABSTRACT
On the basis of sodium Naproxene plasma wash-out curve a computerized system to obtain pharmacokinetic constants in an open bi-compartment model is described. The system could be used to optimize and enhance drug administration in clinics and anaesthesiology.
Subject(s)
Computer Simulation , Drug Therapy, Computer-Assisted , Pharmacokinetics , Therapy, Computer-Assisted , Models, BiologicalSubject(s)
Heterozygote , Iron/urine , Thalassemia/urine , Adolescent , Adult , Aged , Child , Female , Humans , Iron/blood , Male , Middle Aged , Thalassemia/blood , Thalassemia/geneticsSubject(s)
C-Reactive Protein/urine , Urinary Tract Infections/urine , Child , Child, Preschool , Humans , InfantSubject(s)
Iron/urine , Thalassemia/urine , Adolescent , Child , Child, Preschool , Electrochemistry , Humans , Spectrophotometry, AtomicABSTRACT
After a short review of literature about the few previous reports a case of intussusception associated with Yersinia enterocolitica in a 11 month-old infant is reported. The causal significance of mesenteric lymphoadenomegaly is discussed. Intussusception as the first clinical sign of Yersinia infection is suggested.
Subject(s)
Ileal Diseases/etiology , Intussusception/etiology , Yersinia Infections , Female , Humans , Infant , Yersinia enterocoliticaABSTRACT
The daily urinary output was calculated on the basis of creatininuria, starting from an accepted formula that evaluates ClCr, employing the subject's height and creatininemia. Results are satisfactory. The new formula estimates the daily urinary volume on the basis of the mean of the three creatininuria values of the day.
Subject(s)
Creatinine/urine , Urination , Adolescent , Child , Child, Preschool , Female , Humans , Male , Mathematics , Reference ValuesABSTRACT
Renal clearances of transeferrin, IgG and C'3 were determined by the immunodiffusion method in 51 healthy children. Statistical elaboration shows the great dispersion around the mean values. The results of other Authors in healthy adults are confirmed.