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 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.

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.

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.

scholarly journals Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report

2021 ◽  
pp. 429-433
Author(s):  
Salma A. Alshammari ◽  
Fouad A. Alghamdi ◽  
Rami Alhazmi ◽  
Shaikhah Aldossary
Keyword(s):  
Incidental Finding ◽  
Molecular Genetic ◽  
Cerebellar Atrophy ◽  
Failure To Thrive ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
First Year ◽  
Pathogenic Variants ◽  
Clinical Presentations ◽  
First Year Of Life

MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life. Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease. Diagnosis is confirmed by the elevation of and concentrations of 3-MG acid and 3-methylglutaric acid in the urine or by identification of bi-allelic SERAC1 pathogenic variants on molecular genetic testing. Different pathological variants of SERAC1 have been identified in MEGDEL syndrome to date. Here, we report a case of a child with MEGDEL syndrome due to SERAC1 mutation. The child presented with accidental finding by CT showing hypodensity on bilateral symmetric anterior putamen and caudate abnormal. Neurological examination was unremarkable. This report presents a new neuroimaging finding by CT of MEGDEL syndrome.

scholarly journals A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

2018 ◽  
Vol 5 (4) ◽  
pp. 1685
Author(s):  
Meenakshi S. Kushwah ◽  
Ajay Gaur
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Rare Case ◽  
Genetic Disorder ◽  
Failure To Thrive ◽  
First Year ◽  
Extra Copy ◽  
Edwards Syndrome ◽  
Rare Case Report ◽  
First Year Of Life

Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.

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.

scholarly journals Cyst of Canal of Nuck in a 62-Year-Old Woman: Case Report of a Rare Disease

2020 ◽  
pp. 1-5
Author(s):  
Livia Bressan ◽  
Barbara Pozzetto ◽  
Bussani Rossana ◽  
Livia Bressan ◽  
Marina Bortul ◽  
...  
Keyword(s):  
Spermatic Cord ◽  
Inguinal Canal ◽  
Rare Condition ◽  
Round Ligament ◽  
First Year ◽  
Female Development ◽  
Prolene Mesh ◽  
Case Presentation ◽  
Canal Of Nuck ◽  
First Year Of Life

Introduction: Cyst of Nuck in women is a rare development disorder corresponding to hydrocoele of the spermatic cord in males; it can be associated with inguinal hernia in 30-40% of cases. Only 400 cases have been described in literature and in there are no older than 50. Case Presentation: A 62-year-old presented a right aching inguinal swelling. On physical examination the mass was not reducible, without signs of incarceration or strangulation. On ultrasound the lesion was mostly hypoechoic. CT saw an over liquid lesion, confirmed on MRI as a lesion hypointense in T1 and hyperintense in T2. The patient underwent open surgery: the cyst was separated from the round ligament and excised in mass and the defect was repaired with a prolene mesh. The histopathological exam confirmed the hydrocoele (calretinin positive, mesothelial cells on the inner surface). Discussion: The canal of Nuck is a small evagination of the parietal peritoneum that accompanies the round ligament into the inguinal canal during the first year of female development and is normally obliterated in the first year of life. Failure of obliteration of Nuck canal results in a hydrocoele that could develop intraabdominal or extra – abdominal or both. Ultrasound shows a thin walled, well defined, echo free cystic structure but the perfect diagnosis is given by MRI. Therapy is surgical and it can be open or, more recently, laparoscopic, depending on the expertise of the surgeon. Conclusion: A cyst of Nuck is a rare condition but it should always be considered in differential diagnosis of cystic inguinal lumps in women. Most of the reported cases concern children and young men. To our knowledge this is the only case regarding a more than 50-year-old.

Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients

2001 ◽  
Vol 14 (8) ◽  
Author(s):  
Merih Berberoglu ◽  
Zehra Aycan ◽  
Gönül Öcal ◽  
Martine Begeot ◽  
Danielle Naville ◽  
...  
Keyword(s):  
High Serum ◽  
First Year ◽  
Laboratory Findings ◽  
Genetic Studies ◽  
Acth Receptor ◽  
Acth Concentration ◽  
Glucocorticoid Deficiency ◽  
Low Cortisol ◽  
First Year Of Life ◽  
Serum Acth

AbstractFamilial glucocorticoid deficiency (FGD) or unresponsiveness to ACTH at the receptor level is a rare autosomal recessive hereditary syndrome characterized by a low cortisol level despite high serum ACTH concentration. Aldosterone levels are normal. The clinical entity generally presents in the first year of life with skin hyperpigmentation and hypoglycemic convulsions. Cortisol response to exogenous ACTH is also absent. Unresponsiveness to ACTH may be due to a mutation in the ACTH receptor; sometimes no mutation is found. We discuss the clinical and laboratory findings and genetic studies in six patients with a diagnosis of FGD. A homozygous V142L mutation was detected in three of the patients and a homozygous D103N mutation was detected in two patients.

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