Cases reported "Vitamin B 12 Deficiency"

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1/8. Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide.

    After exposure to nitrous oxide, an infant with unrecognized cobalamin deficiency developed neurologic deterioration and pancytopenia. Hematologic recovery and partial resolution of his neurologic changes followed repletion of the vitamin. nitrous oxide depletes bioavailable cobalamin and may be a dangerous anesthetic in patients with cobalamin deficiency.
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2/8. Folate and Vitamin B(12) deficiency presenting as pancytopenia in pregnancy: a case report and review of the literature.

    We present a case of extreme pancytopenia in a 27-year-old pregnant woman. The initial picture was compatible with a severe hematological problem in the category of aplastic anemia, paroxysmal nocturnal hemoglobinuria or even acute leukemia. The further biochemical investigations revealed, however, a folate deficiency.Nowadays this is a very rare cause of pancytopenia. Next to this she also had a Vitamin B(12) deficiency due to intrinsic factor failure. The recent literature is discussed.
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3/8. Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period.

    Anew case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. A 28-day-old boy presented with failure to thrive, hypotonia, pancytopenia, and features of HUS (microangiopathic hemolytic anemia, thrombocytopenia, and renal failure). The possibility of the diagnosis of an underlying vitamin B12 disorder was prompted by evidence of megaloblastic changes on the peripheral smear and by finding in the literature a suggested association of neonatal HUS with this cobalamin-related metabolic disorder. Amino acid analysis showed elevated homocysteine levels in the plasma and increased levels of both homocysteine and methyl malonic acid in the urine. Diagnosis of cobalamin C disease was confirmed by complementation studies using skin fibroblasts. Therapy included parenteral hydroxocobalamin, carnitine, and leucovorin calcium (folinic acid). Cobalamin C disease should be considered in the diagnosis of patients presenting with HUS in infancy who have unexplained megaloblastosis, pancytopenia, neurologic impairment, and failure to thrive. early diagnosis and institution of therapy may be effective in improving survival and quality of life.
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4/8. Cases from the Osler Medical Service at Johns Hopkins University.

    A 50-year-old African American woman presented with bilateral lower extremity pain, a history of falls during the past several months, and personality and behavior changes. She had been in good health until approximately 5 months before admission, when she began to fall with increasing frequency, often while going down a flight of stairs. She described these falls as her "legs giving out" and feeling very heavy and unsteady. There was no head trauma or loss of consciousness. Her daughter noticed that her gait had become somewhat unsteady during the last several months. Her family also noted a change in her personality at this time. Previously, she had been a very tidy person who took great care with her appearance, who was working as a customer service representative. However, she had become less social and very withdrawn. She had been observed putting on dirty clothes after showering, as well as eating constantly. The patient denied any fevers, chills, night sweats, headaches, vision changes, or tinnitus. She also denied any rashes, muscle pain, or intolerance to heat or cold. There was no history of seizure disorder or depression. Her past medical history was notable only for hypertension and being a passenger in a motor vehicle crash 1 year before admission. She denied any alcohol, tobacco, or illicit drug use, and had no travel history other than coming to the united states, as she was originally from Trinidad.On physical examination, she was a moderately obese African American woman with a flat affect, psychomotor slowing, and alopecia of the scalp. She was alert and oriented to person, place, and time, but had a score of 26 out of 30 on the Mini-Mental State Examination. She lost points only for recall; she had no difficulty with serial 7s. Her cranial nerves were intact and her speech was fluent, although sparse, and she did not make any paraphasic errors. Her muscle strength was 5/5 in both the upper and lower extremities. Reflexes were 2 in the upper extremities and 1 in the lower extremities, and toes were downgoing bilaterally. She had intact sensation to light touch and pinprick, but markedly diminished proprioception of her lower extremities bilaterally. She had a wide-based gait with a positive Romberg sign and was markedly ataxic. Rectal examination yielded a positive guaiac test with brown stool, normal tone, and no masses. The remainder of the physical examination was normal.Laboratory studies revealed pancytopenia with a hematocrit of 22.7% and a mean corpuscular volume of 118.2 fL. A peripheral smear that was performed on admission, prior to transfusion, revealed macrocytic red cells and hypersegmented neutrophils.
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5/8. A congenital anomaly of vitamin B12 metabolism: a study of three cases.

    The clinical and morphologic findings of three patients with metabolic acidosis, methylmalonic aciduria, and homocystinuria are presented. The clinical evolution of the patients was similar and was characterized in the first weeks of life by failure to thrive, hypotonia, and lethargy associated with pancytopenia and hepatic dysfunction, eventually progressing to severe respiratory insufficiency and renal failure consistent with a hemolytic-uremic syndrome. The patients died at 40, 45, and 75 days of age. Biochemical analyses and complementation studies revealed a congenital anomaly of vitamin B12 metabolism (cobalamin C disease). Postmortem morphologic findings in all three cases were dominated by a thrombotic microangiopathy of the kidneys and lungs, diffuse hepatic steatosis, and megaloblastic changes in the bone marrow. A severe gastritis with striking cystic dysplastic mucosal changes and total absence of parietal and chief cells was a consistent finding in all three cases, the rest of the gastrointestinal tract appearing essentially normal. Cobalamin C disease is an intracellular defect of cobalamin metabolism with possible recessive inheritance that can result in multiorgan failure early in life, with a thrombotic microangiopathy and unusual changes in the gastric mucosa.
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6/8. Vitamin B12 deficiency in a breast fed infant.

    We report the case of a 5 month old breast fed infant who presented with a history of vomiting, pallor, and failure to thrive. Investigations showed severe nutritional vitamin B12 deficiency with a megaloblastic pancytopenia. This deficiency was due to low vitamin B12 concentrations in the maternal breast milk, and subsequent investigations showed maternal pernicious anaemia. Treatment of the infant with vitamin B12 resulted in a rapid clinical and haematological improvement. This case represents an unusual presentation of pernicious anaemia.
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7/8. pancytopenia due to vitamin B12 deficiency associated with Graves' disease.

    pancytopenia has a broad differential diagnosis, which can be narrowed depending on the cellularity of the bone marrow. The authors describe a complex patient with a history of Graves' disease who presented with pancytopenia, initially suspected of being due to aplastic anemia. He was later diagnosed with Vitamin B12 deficiency as a result of pernicious anemia. The potentially striking hematologic effects of cobalamin deficiency and the autoimmune basis for concurrent Graves' disease and pernicious anemia are reviewed.
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8/8. pancytopenia with chromosomal fragility: vitamin B12 deficiency.

    PURPOSE: pancytopenia in children may have many etiologies. Chromosomal abnormalities with pancytopenia is of particular concern because clonal abnormalities indicate a neoplastic process. We describe three children who had vitamin B12 deficiency and who displayed pancytopenia with multiple chromosomal breaks, rearrangements, and deletions consistent with chromosomal fragility. Severe vitamin B12 deficiency is rare in children and should be considered in the differential diagnosis of a child with pancytopenia, dyserythropoiesis, and multiple chromosomal abnormalities. patients AND methods: Three children displayed pancytopenia with dyserythropoiesis in the bone marrow. Routine cytogenetic analyses in all three patients were performed and chromosome breakage study was performed on the peripheral blood of one patient after vitamin B12 supplementation. RESULTS: All three patients had severe vitamin B12 deficiency. Spontaneous chromosomal fragility was seen in routine cytogenetic analyses in all three patients. Vitamin B12 supplementation resolved the pancytopenia in all three patients and spontaneous and diepoxybutane-induced breakage rates in chromosomes were well within normal rates after therapy in one patient. CONCLUSION: The presence of pancytopenia with cytogenetic abnormalities in a child is worrisome. However, careful interpretation of dyserythropoiesis and megaloblastic changes in bone marrow in the aforementioned clinical situation would result in the correct diagnosis of a disorder that is easily cured.
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