Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND Implementation of the Haemophilus influenzae type b (Hib) conjugate vaccine brought about a reduction in the number of cases and morbidity from type B but increase in nontypeable strain infections. CASE REPORT We had 3 cases of invasive non type Hemophilus influenzae (NTBHI) in immunocompromised children. The first was a fully vaccinated 2-year-old male with a history of pseudomonas sepsis who presented with 1 day of lethargy, fever, vomiting, and diarrhea. Blood culture was positive for Haemophilus influenzae e and cerebrospinal fluid (CSF) confirmed meningitis. Immune deficiency and genetic testing revealed X-linked agammaglobulinemia. The second case was a 4-year-old male, status post liver transplantation, who presented with pneumonia, with positive blood culture for H. influenzae. The last case was of a 2-year-old male with H. influenzae biotype VI in both blood and CSF cultures, who on follow-up was confirmed to have hypogammaglobulinemia. CONCLUSIONS For children diagnosed with an invasive disease caused by NTBHI, a workup for immunodeficiency could be warranted. With the appearance of nontype b serotypes, more studies are needed to determine epidemiology and virulence of these types, and their clinical relevance - perhaps developing a new vaccine to cover nontype b stereotypes, especially for immunodeficient patients.
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PMID:Case Report: Invasive Non Type b Haemophilus influenzae in Immunocompromised Children. 3227 70

Objectives Transcobalamin 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 presentation 4-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. Conclusions In 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.
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PMID:Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. 3284 Nov 61