Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.

Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the RPS19 gene causing Diamond-Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile. After correction of the overlapping diarrhea, metabolic acidosis, and severe anemia (hemoglobin < 3 g/dL), she developed severe persistent sinus bradycardia immediately after mild sedation (before central venous catheter insertion), not attributable to any of the more frequent causes, with a heart rate as low as 49 beats/min on 24 h Holter monitoring, less than the first percentile for age, but with a regular QT interval and no arrhythmia. The echocardiogram was unremarkable, showing a small interatrial communication (patent foramen ovale with left-to-right shunting), mild left ventricular hypertrophy, normal systolic and diastolic function, and mild tricuspid regurgitation. After red cell transfusion and appropriate antibiotic and supportive treatment, the child's general condition improved dramatically but the sinus bradycardia persisted. We consider this a case of well-tolerated sinus bradycardia and foresee a good cardiologic prognosis, while the hematologic prognosis remains determined by future corticoid response, treatment-related complications and risk of leukemia.

[Features of brain stem tumors in children]. / Particularitati evolutive ale tumorilor de trunchi cerebral la copil.

UNLABELLED: Brain stem tumors account for about 10-20% of childhood brain tumors. Peak incidence for these tumors occurs around age 6 to 7 years. AIM: Despite their severity and poor prognosis, brain stem tumors remain an area of intense research with regard to their diagnosis and management. MATERIAL AND METHODS: In the interval 2003-2010, 8 children (4 girls and 4 boys) aged 2-13 years (mean age 6.82), diagnosed with brain stem tumors were followed up. Disease history, onset symptoms, complete physical, laboratory and imaging investigations, and individualized therapeutic approach have been reviewed. Family history was considered to be of particular clinical importance. Monitoring the disease progression was possible until the time of death (when it occurred in hospital) or by information provided by the family and family physician in cases where death occurred at patient's home. RESULTS: Clinical signs and symptoms depend on tumor location, its aggressiveness, and patient's age. Progressive neurological deficits, signs and symptoms caused by increased intracranial pressure, visual disturbances, behavioral disorders, seizures, endocrine disruption, failure to thrive may occur in various combinations. In only 50% of our cases the tumor could be removed. Imaging proved highly suggestive for a brain stem tumor. Histopathological examination diagnosed one pilocytic astrocytoma (grade I), one fibrillary astrocytoma (grade II), one anaplastic astrocytoma (grade III), and one glioblastoma multiforme (grade IV). In the remaining 4 cases imaging was suggestive for glial tumors. Multimodal therapy was used in 2 patients, 7 received adjuvant chemotherapy, and in 1 case no therapy was administered because the tumor rapidly progressed to death. Seven of our patients died on an average of 6.28 months after the diagnosis (range 2 to 9 months). A family history of brain tumors in 2 of our cases supports the hypothesis of genetic factors involvement. CONCLUSIONS: Brain stem tumors are still difficult to investigate, and the results on their long- and medium-term survival remain uncertain.

[Statistical study of the evolution over ten years of the clinical and therapeutic approach in childhood soft tissue sarcoma]. / Studiul statistic clinico-terapeutic si evolutiv pe 10 ani in sarcoamele de tesuturi moi la copii si tineri.

UNLABELLED: Soft tissue sarcoma has a primitive mesenchymal origin and represents a heterogeneous group of malignant entities with a continuous rising frequency in the age range below 18. Rhabdomyosarcoma (RMS) constitutes 5.8% from the whole amount of pediatric solid tumors, taking the fourth place after CNS tumors, neuroblastoma, and Wilms tumors. The other category of non-rhabdomyosarcoma tumors in children and teenagers represents 3% of the solid malignancies under 18 years old. Our study looks at the particularities of the pathological, clinical, therapeutic aspects and the statistical correlation with prognosis. We included in the study a well-known category of soft tissue tumors called of uncertain malignancy. MATERIAL AND METHOD: The study was made between January 1995 and July 2005 in the Pediatric Department of Hematology and Oncology of the "Sf. Maria" Clinical Emergency Hospital Iasi on a group of 58 de patients ranging between 0 and 18 years old. RESULTS: Positive diagnostic confirmation was established on pathological grounds in optic microscopy and immuno-histo-enzymology performed on bioptic samples in Department of Pediatric Surgery and analyzed in Pathology Laboratory of "Sf. Maria" Clinical Emergency Hospital Iasi. Based on histological examination 19 cases (32.75%) were of rhabdomyosarcoma type with following subtypes: alveolar--7 patients, embryonic-- 9 cases, fusiform - 2 cases, bothrioid--1 case), 8 cases were undifferentiated soft tissue sarcomas and one patient had a tumor of pleiomorphic type; 13 children (22.41%) had non-rhabdomyosarcoma soft tissue sarcomas: 6 fibrosarcomas, 2 synovial sarcomas, 1 leiomyosarcoma, 1 Kaposi sarcoma, 1 case of malignant peripheral nerve sheath tumor, 1 case of angioma tumor, one liposarcoma; 16 cases were included in soft tissue tumors of uncertain origin (fibromatosis--6 cases, fibrous histiocytoma--4 cases, hamartoma--cases, myoblastoma--1 case, fibro-xanthoma--1 case, hemangioendothelioma--1 case); 1 PPNET (Askin tumor). CONCLUSIONS: The continuously augmented incidence of soft tissue sarcoma in young ages and the advanced stages initial presentations of tumors require a much more serious and rhythmic survey at general practitioner level. An improvement of diagnostic means is useful, taking into account the limits of optic microscopy. Therapy must be stage and histology adapted; lowering risk toxicity of good prognosis cases and enhancing doses when required are the only reasonable options to avoid over treatment and to have a much better survival rate.