Vitamin B12 Deficiency Disguised As Hemolytic Anemia: A Case Presentation.

This case report describes an 18-month-old male presenting with hemolytic anemia and lethargy, who was ultimately diagnosed with severe vitamin B12 deficiency. The child exhibited global developmental delays, including a lack of speech and walking skills. Initially suspected as intravascular hemolytic anemia, the normal reticulocyte count led to further investigation, which revealed low cobalamin (vitamin B12) levels. The patient received vitamin B12 injections, resulting in normalized cobalamin levels. Additional evaluations ruled out metabolic disorders and other etiologies for his anemia. Follow-up laboratory testing showed improved hemoglobin levels, and the patient was discharged with plans for close monitoring. The case emphasizes the importance of considering vitamin B12 deficiency in children, particularly those with developmental delays and anemia. Early diagnosis and treatment are crucial for preventing long-term neurological consequences associated with severe and prolonged cobalamin deficiency. Healthcare professionals should be aware of the impact of nutrient deficiencies on growth, development, and brain maturation in pediatric populations.

An unusual presentation of a pediatric patient with mixed phenotypic acute leukemia with PICALM::MLLT10 gene rearrangement.

Mixed phenotype leukemia (MPAL) is a rare type of acute leukemia with blasts that co-express antigens of more than one lineage on the same cell or that have separate populations of blasts of different lineages. Here, we report a five-year-old male with inguinal lymphadenopathy diagnosed with MPAL-T/Myeloid MPAL-T/M. The clone demonstrated lineage and immunophenotypically distinct blast populations in the bone marrow and lymph nodes. Bone marrow cytogenetic studies confirmed a rare PICALM::MLLT10 gene fusion. Patients with this fusion gene have been found to have high risk features and poor survival rates in several small case series. Our case report highlights an unusual presentation in medullary and extramedullary sites, within a pediatric patient. At the time of submission of this case report, the patient has shown good response to chemotherapy and continues to be in remission.

Prenatal presentation of an adrenocortical tumor.

BACKGROUND: Prenatally identified suprarenal masses are most often found to be adrenal hemorrhage. The most common tumor in this situation is neuroblastoma. CASE PRESENTATION: We report the case of a rare adrenocortical tumor found prenatally on ultrasound. While most patients with adrenocortical tumors present with virilizing symptoms, our patient did not have evidence of virilization and was presumed to have neuroblastoma. CONCLUSION: Following a period of observation, our patient underwent surgical resection due to tumor growth revealing the unexpected diagnosis.

Delay in surgical treatment and survival after breast cancer diagnosis in young women by race/ethnicity.

IMPORTANCE: Breast cancer in women between the ages of 15 and 39 years (adolescents and young adults [AYAs]) constitutes 5% to 6% of all breast cancer cases in the United States. Breast cancer in AYA women has a worse prognosis than in older women. Five-year survival rates are lowest for AYA women, and only a few studies have examined the impact of delay in treatment, race/ethnicity, and other socioeconomic factors on survival in AYA women. OBJECTIVE: To examine the impact of treatment delay time (TDT), race/ethnicity, socioeconomic status, insurance status, cancer stage, and age on the survival from breast cancer among AYA women. DESIGN, SETTING, AND PARTICIPANTS: This is a retrospective case-only study of 8860 AYA breast cancer cases diagnosed from 1997 to 2006 using the California Cancer Registry database. EXPOSURE: Treatment delay time was defined as the number of weeks between the date of diagnosis and date of definitive treatment. Kaplan-Meier estimation was used to generate survival curves, and a multivariate Cox proportional hazards regression model was performed to assess the association of TDT with survival while accounting for covariates (age, race/ethnicity, socioeconomic status, insurance status, cancer stage [American Joint Committee on Cancer], tumor markers, and treatment). MAIN OUTCOMES AND MEASURES: Five-year survival rates for breast cancer as influenced by host factors, tumor factors, and TDT. RESULTS: Treatment delay time more than 6 weeks after diagnosis was significantly different (P < .001) between racial/ethnic groups (Hispanic, 15.3% and African American, 15.3% compared with non-Hispanic white, 8.1%). Women with public or no insurance (17.8%) compared with those with private insurance (9.5%) and women with low socioeconomic status (17.5%) compared with those with high socioeconomic status (7.7%) were shown to have TDT more than 6 weeks. The 5-year survival in women who were treated by surgery and had TDT more than 6 weeks was 80% compared with 90% (P = .005) in those with TDT less than 2 weeks. In multivariate analysis, longer TDT, estrogen receptor negative status, having public or no insurance, and late cancer stage were significant risk factors for shorter survival. CONCLUSIONS: AND RELEVANCE: Young women with breast cancer with a longer TDT have significantly decreased survival time compared with those with a shorter TDT. This adverse impact on survival was more pronounced in African American women, those with public or no insurance, and those with low SES.

Association between insurance and socioeconomic status and risk of advanced stage Hodgkin lymphoma in adolescents and young adults.

BACKGROUND: Hodgkin lymphoma (HL) is one of the most common types of cancer among adolescents and young adults (AYAs) in the United States. Unfortunately, a greater percentage of AYAs are presenting with an advanced stage of disease at the time of diagnosis compared with their younger counterparts. METHODS: The objective of the current study was to examine the association between possible barriers and characteristics (including gender, race, birthplace, marital status, socioeconomic status [SES], and insurance status) that may increase the risk of advanced stage HL at the time of diagnosis in a large cohort of AYA patients with HL from the California Cancer Registry (7343 incident cases of HL diagnosed from 1988-2006, between ages 15 years-40 years). RESULTS: AYAs with advanced stage HL were more likely to be male, of Hispanic or black race/ethnicity, foreign born, single, of lower SES, and uninsured or to have only public health insurance (P < .05). Multivariate logistic regression analysis demonstrated that there was a significant increase in the odds of having advanced HL in males (odds ratio [OR], 1.57; 95% confidence interval [95% CI], 1.42-1.74 [P < .0001]), those with the lowest SES (OR, 1.47; 95% CI, 1.23-1.75 [P = .0003]), those without health insurance (OR, 1.76; 95% CI, 1.34-2.31 [P < .0001]), and those with public health insurance (OR, 1.45; 95% CI, 1.23-1.71 [P < .0001]). CONCLUSIONS: A strong association was found between male gender, lower SES, and lack of health insurance and advanced stage HL at the time of diagnosis in AYAs (See editorial on pages 000-000, this issue.).

Cerebral glucose metabolism in obsessive-compulsive hoarding.

OBJECTIVE: Compulsive hoarding and saving symptoms, found in many patients with obsessive-compulsive disorder (OCD), are part of a discrete clinical syndrome that includes indecisiveness, disorganization, perfectionism, procrastination, and avoidance and has been associated with poor response to medications and cognitive behavior therapy. The authors sought to identify cerebral metabolic patterns specifically associated with the compulsive hoarding syndrome using positron emission tomography (PET). METHOD: [(18)F]Fluorodeoxyglucose PET scans were obtained for 45 adult subjects who met DSM-IV criteria for OCD (12 of whom had compulsive hoarding as their most prominent OCD symptom factor) and 17 normal comparison subjects. All subjects had been free of psychotropic medication for at least 4 weeks. Regional cerebral glucose metabolism was compared between the groups. RESULTS: In relation to the comparison subjects, the patients with compulsive hoarding syndrome had significantly lower glucose metabolism in the posterior cingulate gyrus and cuneus, whereas the nonhoarding OCD patients had significantly higher glucose metabolism in the bilateral thalamus and caudate. In relation to nonhoarding OCD patients, compulsive hoarders had significantly lower metabolism in the dorsal anterior cingulate gyrus. Across all OCD patients, hoarding severity was negatively correlated with glucose metabolism in the dorsal anterior cingulate gyrus. CONCLUSIONS: OCD patients with the compulsive hoarding syndrome had a different pattern of cerebral glucose metabolism than nonhoarding OCD patients and comparison subjects. Obsessive-compulsive hoarding may be a neurobiologically distinct subgroup or variant of OCD whose symptoms and poor response to anti-obsessional treatment are mediated by lower activity in the cingulate cortex.

Attenuation of cue-induced cigarette craving and anterior cingulate cortex activation in bupropion-treated smokers: a preliminary study.

In untreated smokers, exposure to cigarette-related cues increases both the intensity of cigarette craving and relative glucose metabolism of the perigenual/ventral anterior cingulate cortex (ACC). Given that treatment with bupropion HCl reduces overall cigarette craving levels in nicotine dependent subjects, we performed a preliminary study of smokers to determine if bupropion HCl treatment attenuates cue-induced cigarette craving and associated brain metabolic activation. Thirty-seven, otherwise healthy smokers (20 untreated and 17 who had received open-label treatment with bupropion HCl) underwent two (18)F-fluorodeoxyglucose positron emission tomography scanning sessions in randomized order--one when presented with neutral cues and the other when presented with cigarette-related cues. Bupropion-treated smokers had smaller cigarette cue-induced increases in craving scores on the Urge to Smoke (UTS) Scale and less activation of perigenual/ventral ACC metabolism from the neutral to the cigarette cue scan than untreated smokers. Thus, in addition to its known effects on spontaneous cigarette craving and withdrawal symptoms, bupropion HCl diminishes cue-induced cigarette craving and appears to attenuate cigarette cue-induced ACC activation. These results are consistent with the known effects of bupropion HCl, including its enhancement of catecholaminergic neurotransmission.

Differences between smokers and nonsmokers in regional gray matter volumes and densities.

BACKGROUND: Magnetic resonance imaging (MRI) studies have demonstrated large-scale brain abnormalities in cigarette smokers, such as ventricular enlargement and atrophy. Converging lines of evidence point to functional differences between smokers and nonsmokers in specific brain regions, namely the lateral prefrontal cortex (PFC), anterior cingulate cortex (ACC), ventral striatum, and thalamus. Using MRI, we examined these regions for differences in gray matter between smokers and nonsmokers. METHODS: Thirty-six otherwise healthy adults (19 smokers and 17 nonsmoking control subjects) underwent three-dimensional Fourier-transform spoiled-gradient-recalled acquisition MRI of the brain. Both hand-drawn regions of interest and the computer program voxel-based morphometry were used to assess group differences in regional gray matter volumes and densities, respectively. RESULTS: Smokers had smaller gray matter volumes and lower gray matter densities than nonsmokers in the PFC bilaterally, along with smaller volumes in the left dorsal ACC and lower gray matter densities in the right cerebellum. Smokers also had negative associations between pack-year smoking history and PFC gray matter densities. CONCLUSIONS: Smokers and nonsmokers differed in regional gray matter in brain areas previously linked with nicotine dependence. These findings might reflect effects of chronic smoking, predisposing traits that lead to smoking, or some combination of these factors.