ABSTRACT
A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. The clinically suspected diagnosis of pulmonary alveolar microlithiasis (PAM) supported by pathognomonic radiological abnormalities was confirmed by genetic analysis. The clinical presentation of PAM is illustrated by a case and review of the current literature on this subject: you only see what you know.
Subject(s)
Calcinosis/diagnostic imaging , Lithiasis/diagnostic imaging , Lung Diseases/diagnostic imaging , Pulmonary Alveoli/diagnostic imaging , Bronchoalveolar Lavage , Calcinosis/genetics , Calcinosis/pathology , Child , Female , Humans , Lithiasis/genetics , Lithiasis/pathology , Lung Diseases/genetics , Lung Diseases/pathology , Pulmonary Alveoli/pathology , RadiographyABSTRACT
Vitamin K deficiency bleeding (VKDB) in infants still occurs despite worldwide use of prophylaxis. Clinical manifestations can be dramatic with over 50% of patients presenting with intracranial haemorrhage and a mortality rate of 20% in late vitamin K deficiency bleeding. Special attention should be given to infants with a high risk profile (preterm, breast feeding, cholestasis, malabsorption). A tentative diagnosis can be made observing quick normalisation of some easy-to-perform haemostatic parameters (PT, aPTT) after administration of vitamin K. Nowadays, VKDB can still be the first clinical sign of diseases causing malabsorption of fat-soluble vitamins. In this case report, VKDB led to the diagnosis of cystic fibrosis, the most common fatal autosomal recessive disease among Caucasian people.
Subject(s)
Blood Coagulation Factors/metabolism , Cystic Fibrosis , Enzyme Replacement Therapy , Vitamin K Deficiency Bleeding , Vitamin K , Age of Onset , Breast Feeding , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/drug therapy , Cystic Fibrosis/metabolism , Cystic Fibrosis/physiopathology , Drug Administration Routes , Exocrine Pancreatic Insufficiency/etiology , Exocrine Pancreatic Insufficiency/metabolism , Exocrine Pancreatic Insufficiency/physiopathology , Exocrine Pancreatic Insufficiency/therapy , Failure to Thrive/etiology , Failure to Thrive/metabolism , Failure to Thrive/therapy , Female , Humans , Infant , Liver Function Tests , Malabsorption Syndromes/etiology , Malabsorption Syndromes/metabolism , Malabsorption Syndromes/physiopathology , Malabsorption Syndromes/therapy , Risk Factors , Treatment Outcome , Vitamin K/administration & dosage , Vitamin K/metabolism , Vitamin K Deficiency Bleeding/drug therapy , Vitamin K Deficiency Bleeding/epidemiology , Vitamin K Deficiency Bleeding/etiology , Vitamin K Deficiency Bleeding/metabolism , Vitamin K Deficiency Bleeding/physiopathology , Vitamins/administration & dosage , Vitamins/metabolismABSTRACT
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare disease characterized by osteocartilaginous overgrowth involving single or multiple epiphyses on the medial or the lateral side of an affected limb. DEH usually becomes clinically evident in childhood. Imaging has a major role in the diagnosis of DEH. Typical location and radiographical features, together with a distinct distribution usually permit diagnosis. Magnetic resonance imaging (MRI) is often used as an additional imaging modality to evaluate the lesion. Whole-body MR imaging (WBMRI) currently has become a relatively fast imaging method having good sensitivity to detect lesions in the larger bones of the skeleton. In Trevor's disease, WBMRI can demonstrate (clinically and radiographically unsuspected) additional lesions throughout the affected limb without use of ionizing radiation, revealing the typical distribution pattern of DEH. We propose to add WBMRI to the routine MRI examination performed to evaluate the lesion itself. WBMRI may have a clear therapeutic advantage: if a distribution pattern typical of DEH is found, it constitutes a strong argument in favor of Trevor's disease which may avoid the need to perform biopsy.
Subject(s)
Bone Diseases, Developmental/diagnosis , Magnetic Resonance Imaging/methods , Whole Body Imaging , Diagnosis, Differential , Female , Femur/abnormalities , Humans , Infant , Tibia/abnormalitiesABSTRACT
A 7-year-old boy developed renal tubular dysfunction and hypophosphatemic rickets following treatment for relapsed embryonal rhabdomyosarcoma. Multi-agent chemotherapy included ifosfamide; the child received a total of 108 g/m2. The complete Fanconi syndrome which ensued, including excessive loss of calcium, resolved spontaneously and progressively 18 months after the last dose of ifosfamide. The patient had no further symptoms of rickets and radiological signs had almost completely normalized. Further follow-up was not possible as, despite further treatment, the child died of progressive disease.
Subject(s)
Fanconi Syndrome/chemically induced , Ifosfamide/adverse effects , Abdominal Neoplasms/drug therapy , Child , Humans , Ifosfamide/therapeutic use , Male , Neoplasm Recurrence, Local/drug therapy , Radiography , Rhabdomyosarcoma/drug therapy , Wrist/diagnostic imagingABSTRACT
131I-Meta-iodobenzylguanidine has proved to be useful for the diagnosis of different kinds of neoplasms of neuroectodermal origin. The value of this scintigraphic method as a complementary technic to conventional diagnostic tests for staging in a child with neuroblastoma is described. In another child an ontogenetically related tumor, a mediastinal ganglioneuroma, was also visualized.
