scholarly journals Atypical presentation of metastatic disease in patients with stage 4S neuroblastoma of the observation group: description of the clinical case

2020 ◽  
Vol 7 (3) ◽  
pp. 125-131
Author(s):  
L. A. Smirnova ◽  
D. Yu. Kachanov ◽  
A. P. Shcherbakov ◽  
D. G. Akhaladze ◽  
M. V. Teleshova ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Metastatic Disease ◽  
Malignant Tumor ◽  
Clinical Case ◽  
Favorable Outcome ◽  
First Year ◽  
Atypical Presentation ◽  
Observation Group ◽  
Atypical Metastasis ◽  
First Year Of Life

The most common extracranial solid malignant tumor of childhood – neuroblastoma (NB) is characterized by the presence of two metastatic forms (stages 4 and 4S). Stage 4S is described to have metastatic spread to the liver, skin, and minimal bone marrow invasion. Certain rare localisations of NB metastases (pleura, testicles, and others) may not worsen the prognosis in children of the first year of life in the absence of severe bone marrow invasion and metastases to the skeletal bones. The article describes a clinical case of retroperitoneal NB with atypical metastasis to the pleura in a child of the first months of life with a favorable outcome with a minimum amount of chemotherapy.

scholarly journals A Neonate with Down’s Syndrome and Transient Abnormal Myelopoiesis: Serial Blood and Bone Marrow Studies

Blood ◽  
1970 ◽  
Vol 36 (4) ◽  
pp. 443-447 ◽  
Author(s):  
TAKESHI NAGAO ◽  
BEATRICE C. LAMPKIN ◽  
GEORGE HUG
Keyword(s):  
Bone Marrow ◽  
Marrow Cell ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Male Infant ◽  
First Year ◽  
Electron Microscopic ◽  
Transient Abnormal Myelopoiesis ◽  
Microscopic Studies ◽  
First Year Of Life

Abstract Observations were made of the blood and bone marrow of a male infant with Down’s syndrome during the first year of life. At 4 days of age there were 36,500 myeloblasts/cu.mm. in the blood and 10.8 per cent myeloblasts in the marrow. Initially it appeared the patient had acute myeloblastic leukemia. However, the clinical course and kinetic and electron microscopic studies of his bone marrow cell population indicate he did not have acute leukemia.

A Girl with Farber Disease Treated with Bone Marrow Transplantation

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Elham Farasat ◽  
Elnaz Sheikhpour
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Central Nervous System Involvement ◽  
Signs And Symptoms ◽  
First Year ◽  
Farber Disease ◽  
Subcutaneous Nodules ◽  
Exon 11 ◽  
First Year Of Life

Background: Farber disease is a very rare autosomal recessive disease of lipid metabolism caused by deficient activity of lysosomal acid ceramidase. Symptoms can begin in the first year of life by a triad of painful and swollen joints and subcutaneous nodules, progressive hoarseness and variable central nervous system involvement.   Case Report: A 5 months old girl with subcutaneous nodules in limbs, pain and swelling in her fingers, Knees, elbow and hoarseness was referred to our clinic. She had neurodevelopment delay in walking and talking. Genetic analysis was reported homozygosity for a c.830C>A mutation in exon 11 of N-Acylsphingosine Amidohydrolase 1 (ASAH1) gene. She diagnosed with Farber disease and treated with bone marrow transplantation. After that her signs and symptoms were improved and she could to walk.   Conclusion: Farber disease is associated with characteristics including swollen joints, subcutaneous nodules, progressive hoarseness and variable CNS involvement. Moreover, bone marrow transplantation improved these symptoms.

Unusual Bone Marrow Findings in a Patient with Congenital Amegakaryocytic Thrombocytopenia.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1109-1109
Author(s):  
Melissa J. Rose ◽  
Kathleen K. Nicol ◽  
Thomas G. Gross ◽  
Bryce A. Kerlin
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Aspirate ◽  
Bone Marrow Failure ◽  
Amino Acid Position ◽  
First Year ◽  
Normal Numbers ◽  
Bone Marrow Failure Syndrome ◽  
Platelet Counts ◽  
Morphological Findings ◽  
First Year Of Life

Abstract BACKGROUND: Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare bone marrow failure syndrome that presents with isolated thrombocytopenia within the first year of life. Classic diagnostic bone marrow findings reveal absent or significantly decreased megakaryocytes with otherwise normal marrow cellularity. We present a case of a newborn with CAMT whose initial bone marrow aspirate showed an appropriate number of megakaryocytes. CASE: A caucasian male presented on day-of-life (DOL) 1 with petechiae and a platelet count of 13,000/mcL. Physical exam, WBC count and hemoglobin were otherwise normal. Alloimmune thrombocytopenia evaluation and CMV serology were negative. Platelet transfusions were required almost daily to maintain platelet counts >100,000/mcL in the neonatal period. Tibial bone marrow aspirate performed on DOL 21 revealed normocellular marrow with a normal number of immature megakaryocytes. Figure Figure Cytogenetics were normal and DNA breakage studies were negative. Beyond 1-month-of-age, platelet counts were maintained >25-30,000/mcL with 1–2 transfusions per week. Repeat bone marrow aspirate and biopsy on DOL 102, from the iliac crest, again was normocellular, but was now significant for marked megakaryocytic hypoplasia. Number of Megakaryocytes Found on Serial Bone Marrow Aspirates Age Patient Age-Matched Control 4 slides per aspiration site were examined at the feathered edge at 40× magnification. Data is expressed in average number of megakaryocytes/10 hpf 21 days 3 1.6 102 days 0 2.1 Mutation analysis of the gene responsible for the thrombopoietin receptor MPL was notable for a homozygous point mutation in exon 3, resulting in a substitution of proline for arginine at amino acid position 102. This missense mutation has been previously associated with CAMT. CONCLUSION: This is the third reported case of normal megakaryocyte numbers found on the initial bone marrow aspirate, in a patient who was later diagnosed with CAMT. CAMT should not be excluded from the differential diagnosis of persistent thrombocytopenia within the first year of life, solely based on normal numbers of megakaryocytes on the initial bone marrow. The presence of immature megakaryocytes may represent early morphological findings in CAMT.

Atypical Presentation of Infantile Hepatic Hemangioma: A Case Study

2017 ◽  
Vol 36 (6) ◽  
pp. 374-379
Author(s):  
Ashley Sartori ◽  
Gayle Leary Omansky ◽  
Steven Ringer
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Multidisciplinary Team ◽  
First Year ◽  
Hepatic Hemangioma ◽  
Atypical Presentation ◽  
Team Care ◽  
First Year Of Life ◽  
High Output

AbstractInfantile hepatic hemangioma (IHH) is the most common benign hepatic tumor of infancy. It is characterized by rapid proliferation in the first year of life, followed by slow involution during childhood. Presentation can range from asymptomatic to severe, high-output congestive heart failure (CHF). The purpose of this article is to review the case of an infant with an atypical presentation of IHH. It also addresses pathophysiology, diagnosis, management, and multidisciplinary team care.

scholarly journals Case of infant botulism

2020 ◽  
Vol 19 (2) ◽  
pp. 64-66
Author(s):  
A. A. Andreeva ◽  
I. A. Kutishcheva ◽  
G. P. Martynova ◽  
N. A. Vlasova ◽  
T. S. Kartel ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Result ◽  
Clinical Case ◽  
Laboratory Research ◽  
First Year ◽  
Infant Botulism ◽  
First Year Of Life

Presents a clinical case, demonstrating the complexity of differential diagnosis of botulism of a child on the first year of life. The tactic of laboratory research, the therapy and the clinical result of the treatment was described.

scholarly journals An Infant with Splenohepatomegaly: A Rare Cause

2014 ◽  
Vol 4 ◽  
pp. 48
Author(s):  
Kathiravan Kalyanasundaram ◽  
Podhini Jegadeesan ◽  
Sibi Chakravarthy Mohan ◽  
Vinoth N Ponnurangam
Keyword(s):  
Bone Marrow ◽  
Bone Resorption ◽  
Cranial Nerve ◽  
Early Life ◽  
Growth Failure ◽  
Extramedullary Hematopoiesis ◽  
Marrow Transplant ◽  
First Year ◽  
Rare Congenital Disorder ◽  
First Year Of Life

Osteopetrosis is a rare congenital disorder of bone resorption, caused by failure of osteoclasts to reabsorb immature bone. Malignant infantile osteopetrosis presents in early life with generalized osteosclerosis and decreased bone marrow spaces, resulting in anemia, splenohepatomegaly due to extramedullary hematopoiesis, cranial nerve compression, and growth failure. It is a fatal condition with death occurring within the first year of life. Bone marrow transplant remains the only curative treatment. We present a report of an infant with splenohepatomegaly, who was diagnosed with malignant infantile osteopetrosis.

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature

2020 ◽  
Vol 33 (11) ◽  
pp. 1487-1499
Author(s):  
Engin Kose ◽  
Ozge Besci ◽  
Elif Gudeloglu ◽  
Suzan Suncak ◽  
Yesim Oymak ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Failure To Thrive ◽  
First Year ◽  
Laboratory Findings ◽  
Case Presentation ◽  
Optimal Outcomes ◽  
Novel Variant ◽  
First Year Of Life ◽  
Cobalamin Metabolism ◽  
Transcobalamin Ii

AbstractObjectivesTranscobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene.Case presentation4-month-old twins were admitted with fever, respiratory distress, vomiting, diarrhea, and failure to thrive. Physical examination findings revealed developmental delay and hypotonia with no head control, and laboratory findings were severe anemia, neutropenia, and hypogammaglobulinemia. Despite normal vitamin B12 and folate levels, homocysteine and urine methylmalonic acid levels were elevated in both patients. Bone marrow examinations revealed hypocellular bone marrow in both cases. The patients had novel pathogenic homozygous c.241C>T (p.Gln81Ter) variant in the TCN2 gene. In both cases, with intramuscular hydroxycobalamin therapy, laboratory parameters improved, and a successful clinical response was achieved.ConclusionsIn infants with pancytopenia, growth retardation, gastrointestinal manifestations, and immunodeficiency, the inborn error of cobalamin metabolism should be kept in mind. Early diagnosis and treatment are crucial for better clinical outcomes. What is new? In literature, to date, less than 50 cases with TC deficiency were identified. In this report, we presented twins with TCN2 gene mutation. Both patients emphasized that early and aggressive treatment is crucial for achieving optimal outcomes. In this report, we identified a novel variation in TCN2 gene.

scholarly journals Outcomes of atopic dermatitis manifesting in the first year of life

2021 ◽  
Vol 66 (5) ◽  
pp. 168-171
Author(s):  
Kh. M. Vakhitov ◽  
I. N. Serdinskaya ◽  
T. G. Malanicheva
Keyword(s):  
Allergic Rhinitis ◽  
Atopic Dermatitis ◽  
Complete Remission ◽  
Bronchial Asthma ◽  
Favorable Outcome ◽  
First Year ◽  
Severe Atopic Dermatitis ◽  
Clinical Forms ◽  
First Year Of Life

For 10 years the authors analyzed 165 clinical cases of children with atopic dermatitis, which manifested in the first year of life. According to the 10-year follow-up, the authors revealed different outcomes of the disease, depending on the severity of the course, clinical forms of dermatitis and the timing of its onset. Favorable outcome with complete remission was observed in 30.9% of cases and was more common in children with a mild course of atopic dermatitis, acute exudative forms and with the onset of the disease at the age over 6 months. The transition to chronic forms was noted in 14.5% of cases and more often took place in children with a moderate severe course of the disease, erythematous-squamous forms and the onset of the disease at the age of 4–6 months. The development of respiratory forms of allergy (allergic rhinitis and bronchial asthma) was noted in 54.6% of cases and was more often detected in patients with a moderate severe and severe atopic dermatitis, erythematous-squamous forms and exudative forms with lichenification and onset of the disease in the first 3 months of life.

scholarly journals Clinical Case of Fetal Lymphangioma

2021 ◽  
pp. 77-80
Author(s):  
Aurika Sukhanova ◽  
Olena Karlova ◽  
Nataliia Bankovska ◽  
Olena Kuzminska
Keyword(s):  
Clinical Case ◽  
Color Doppler ◽  
Region Growing ◽  
Color Doppler Imaging ◽  
Doppler Imaging ◽  
First Year ◽  
Fetal Ultrasound ◽  
Axillary Region ◽  
System Tumor ◽  
First Year Of Life

Lymphangioma is a benign lymphatic system tumor, often congenital, mainly affecting lymph nodes in various anatomic localizations. Postnatally mostly common lymphangioma manifestation occurs during the first year of life. Today it can be readily diagnosed prenatally. Diagnosis is based on non-invasive visualization, such as sonography and computed tomography. The objective: is to present clinical case of manifest fetal lymphangioma diagnosed during pregnancy. Fetal ultrasound (US) was performed at 28, 32, 34 weeks of gestation. As a result fetus was diagnosed with hypoechogenic mass in right axillary region, growing in dynamics gradually from 34×28 mm, 38×34 mm to 49×37 mm. Mass had clear even contours, hyperechogenic capsule with fine dispersed suspension content. Color doppler imaging showed avascular mass character. After delivery at 37–38 weeks of gestation (planned Cesarean section) at newborn examination we visualized asymmetric soft elastic consistency protrusion along right midclavicular and anterior axillary region. Described clinical case of fetal lymphangioma is a good illustration of dynamic prenatal and postnatal dynamic observation and its US interpretation.

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