Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
AACE Clin Case Rep ; 10(5): 174-178, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39372827

RESUMEN

Background/Objective: We present an adolescent male with Noonan syndrome (NS) and celiac disease (CD) who attained normal adult height with growth hormone (GH) treatment and gluten-free diet (GFD). Case Report: A 15 ½ year old healthy male presented with short stature and delayed puberty. His mother and maternal grandmother were short with heights 142.2 cm and 147.3 cm, respectively. Examination showed bilateral epicanthal folds and down slanting eyes like his mother, fifth finger clinodactyly, height 147.5 cm (<1%; standard deviation score, -2.96), growth velocity 2.5 cm/y, weight 48.2 kg (11%; standard deviation score, -1.24), Tanner 2 pubic hair and Tanner 1 genitalia. Midparental target height was 169.1 cm. He had normal screening studies for GH deficiency and thyroid disorders, prepubertal gonadotropins and testosterone levels, and normal total immunoglobulin A, and elevated antitissue transglutaminase immunoglobulin A 134.7units/mL (0-20). Bone age was 13 years. Genetic evaluation revealed heterozygous missense variant of BRAF gene in him and his mother confirming a diagnosis of NS. He was diagnosed with CD by intestinal biopsy. Patient was started on GH therapy and a GFD with subsequent improvement in growth velocit (6.8-12.3 cm/y) and advancement of puberty. The patient stopped GH therapy at 17 ½ years with a height 165.9 cm. Discussion: Coexistence of NS caused by BRAF missense variant and CD has not been previously reported. Our patient attained normal adult height with GH therapy and GFD. Conclusion: NS and CD can co-occur and addressing both these disorders can help patients attain normal height potential.

2.
AACE Clin Case Rep ; 10(4): 132-135, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39100627

RESUMEN

Background/Objective: Individuals with heterozygous familial hypobetalipoproteinemia (h-FHBL) due to loss-of-function mutation in the apolipoprotein B gene are typically asymptomatic with mild liver dysfunction, which is often detected incidentally. About 5% to 10% of those with h-FHBL develop steatohepatitis which occasionally progress to cirrhosis especially in the presence of alcohol use, excess calorie consumption, or liver injury. We report 3 patients with hypobetalipoproteinemia, 2 with confirmed h-FHBL, and 1 with suspected h-FHBL. Case Report: Three asymptomatic adolescents presented with low lipid levels detected on screening laboratory studies. Patient 1, a 13 6/12-year-old male and patient 2, a 15 9/12-year-old female, were siblings. Patient 3 was a 12 6/12-year-old female. All had total cholesterol ranging from 61 to 87 mg/dL, low-density lipoprotein cholesterol 10 to 28 mg/dL, and triglycerides 19 to 36 mg/dL. Aspartate transaminase and alanine transaminase levels were normal in patients 1 and 3 and were elevated in patient 2. Liver ultrasounds of patients 2 and 3 showed hepatic steatosis. Molecular testing identified pathogenic variant of apolipoprotein B gene in patients 1 and 2, c.133C>T(p.Arg.45Ter) confirming the diagnosis of h-FHBL. Discussion: More studies are needed in children with h-FHBL and other forms of hypobetalipoproteinemia to improve awareness of these disorders and to develop guidelines for monitoring and risk reduction in affected patients. Conclusion: Health care providers should be aware that persistent hypolipidemia may indicate h-FHBL, which can be a risk factor for liver dysfunction. Youth with h-FHBL should be counseled about lifestyle modifications and screened for the development of metabolic dysfunction-associated steatotic liver disease.

3.
JCEM Case Rep ; 2(9): luae152, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39193092

RESUMEN

We report growth hormone (GH) deficiency due to presumed GH releasing hormone (GHRH) resistance in an adolescent with pseudohypoparathyroidism type 1B (PHP1B) due to paternal uniparental disomy of chromosome 20 (patUPD20). A male patient aged 11 years 10 months with obesity and mild developmental delay was found to have hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone level. History included muscle cramps and leg pain with activity. Examination showed round facies, short stature, and obesity. He was in puberty and bone age was advanced by > 2 years. Detailed genetic workup, including nucleotide sequence analysis of GNAS exons 1-13 and STX16, methylation-sensitive multiplex ligation-dependent probe amplification and analysis of several microsatellite markers for chromosome 20, established the diagnosis of PHP1B due to patUPD20. Muscle cramps and hypocalcemia resolved with calcium carbonate, ergocalciferol, and calcitriol treatment. He was short with linear growth deceleration at around age 13 years. Peak GH concentration was insufficient following stimulation testing. Growth velocity improved with human GH treatment. Although rare, resistance to GHRH can occur in PHP1B and patients with this disorder should be evaluated for GH insufficiency if they present with short stature and reduced growth velocity. Treatment with recombinant human GH may improve growth velocity in such patients.

4.
Artículo en Inglés | MEDLINE | ID: mdl-39040013

RESUMEN

The gut microbiota (GM), comprising trillions of microorganisms in the gastrointestinal tract, is a key player in the development of obesity and related metabolic disorders, such as type 2 diabetes (T2D), metabolic syndrome (MS), and cardiovascular diseases. This mini-review delves into the intricate roles and mechanisms of the GM in these conditions, offering insights into potential therapeutic strategies targeting the microbiota. The review elucidates the diversity and development of the human GM, highlighting its pivotal functions in host physiology, including nutrient absorption, immune regulation, and energy metabolism. Studies show that GM dysbiosis is linked to increased energy extraction, altered metabolic pathways, and inflammation, contributing to obesity, MS, and T2D. The interplay between dietary habits and GM composition is explored, underscoring the influence of diet on microbial diversity and metabolic functions. Additionally, the review addresses the impact of common medications and therapeutic interventions like fecal microbiota transplantation on GM composition. The evidence so far advocates for further research to delineate the therapeutic potential of GM modulation in mitigating obesity and metabolic diseases, emphasizing the necessity of clinical trials to establish effective and sustainable treatment protocols.

5.
AACE Clin Case Rep ; 10(2): 52-54, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38523857

RESUMEN

Background/Objective: Type 1 diabetes (T1D) and myasthenia gravis (MG) are autoimmune conditions that rarely co-occur. Here, we report a child with MG who subsequently developed T1D. Case report: An 11-year-old girl with seropositive MG diagnosed at 4 years of age presented with muscle pain, cramps, and weight loss of 3.5 kg over 4 months. Her MG was in remission on daily pyridostigmine. She denied polyuria, polydipsia, recent illnesses, or other medications. She was prepubertal and had stable vitals with normal systemic examination. Initial work up for a probable diagnosis of rhabdomyolysis showed hyperglycemia and glucosuria. She had ketosis without acidosis. Diabetes autoantibodies were positive (anti-glutamic acid decarboxylase antibody 113.5 IU/mL (reference range < 5 IU/mL), anti-zinc transporter 8 antibody > 500 U/mL (reference range < 15 IU/mL)). Screening for autoimmune thyroid disease and celiac disease was negative. Patient was diagnosed with T1D and was started on subcutaneous insulin. Discussion: The co-existence of MG and T1D is rare. All the 4 prior reported patients from Europe were diagnosed with T1D prior to or concurrently with MG. In contrast, our patient was first diagnosed with MG and subsequently diagnosed with T1D 7 years later. Conclusions: Consider screening for T1D in patients with MG and offering treatment to those above 8 years and older with stage 2 T1D to delay its onset. Along with other causes, T1D should also be considered when patients with MG present with nonspecific symptoms such as fatigue and weight loss.

6.
Horm Res Paediatr ; 2024 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-38295777

RESUMEN

INTRODUCTION: Agranulocytosis is a rare, but serious complication of methimazole (MMI) use for Graves' disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few reports exist about the optimal alternative treatment regimens for the management of thyrotoxicosis in these medically complex patients in the pediatric population. CASE REPORT: We report prolonged saturated solution of potassium Iodide (SSKI) use (29 days) in a 17-year-old female with GD and MMI-induced agranulocytosis, who presented with septic shock. Her treatment course also included beta-blockade, cholestyramine, and granulocyte colony stimulating factor. We performed a review of the literature on the use of SSKI in the management of thyrotoxicosis, as well as best practices from the view of endocrinology, infectious disease, hematology, surgery, and intensivists, for the evaluation and management of MMI-induced agranulocytosis. DISCUSSION: The management of MMI-induced agranulocytosis and associated sequelae require subspecialty input and intensive evaluation and monitoring. Alternative treatments to manage hyperthyroidism and control symptoms of thyrotoxicosis during agranulocytosis are a bridge to definitive therapy, and include beta-blockade, SSKI, cholestyramine, steroids, lithium, and plasmapheresis.

8.
J Pediatr Endocrinol Metab ; 36(11): 1109-1113, 2023 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-37791799

RESUMEN

OBJECTIVES: Hypercalcemia has been reported as an uncommon complication of the ketogenic diet (KD). Here we present a toddler whose hypercalcemia persisted for 2 months after stopping the KD. CASE PRESENTATION: A 2 year 11-month-old child with global developmental delay, infantile spasms, neuromuscular weakness with limited mobility, tracheostomy and ventilator dependence, and oropharyngeal dysphagia with G-tube dependence presented with hypercalcemia in the setting of recurrent vomiting. At presentation, the patient was adherent to a KD and taking topiramate since infancy for intractable seizures. His laboratory parameters at presentation showed hypercalcemia (11.9 mg/dL), hypercalciuria, acute renal failure, low alkaline phosphatase (76 IU/L [110-302 IU/L]), parathyroid hormone (PTH) <6 pg/mL (18-80 pg/mL), normal thyroid function, cortisol and vitamin D level. The patient's hypercalcemia persisted post-discontinuation of the KD and topiramate. PTH-related protein was mildly elevated at 15.3 pmol/L. Follow-up laboratory and imaging studies ruled out malignancy. He was managed with calcitonin 4 u/kg/dose Q12H × 1 day and 8 u/kg/dose Q8H × 1 day, hydration and low-calcium formula. Post-discontinuation of the KD, normalization of alkaline phosphatase levels preceded the normalization of calcium on day 55 and PTH on day 85. CONCLUSIONS: Hypercalcemia may persist for an extended period after weaning from a KD; lab parameters may mimic that of hypophosphatasia as previously described in the literature. Normalization of alkaline phosphatase, a marker of bone turnover, indicates recovery from the adynamic state induced by the KD and typically precedes the normalization of calcium and PTH.


Asunto(s)
Dieta Cetogénica , Hipercalcemia , Hipofosfatasia , Masculino , Humanos , Lactante , Hipercalcemia/diagnóstico , Hipercalcemia/etiología , Calcio , Hipofosfatasia/diagnóstico , Hipofosfatasia/complicaciones , Fosfatasa Alcalina , Dieta Cetogénica/efectos adversos , Topiramato/efectos adversos , Hormona Paratiroidea , Calcio de la Dieta
9.
Case Rep Pediatr ; 2023: 3588196, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37901796

RESUMEN

Background: Symptomatic hypocalcemia secondary to vitamin D deficiency (VDD) is rare among adolescents without underlying medical disorders, but its prevalence is higher in known risk populations. We report on three adolescent males with low nutritional intake of vitamin D and calcium and limited sun exposure who presented with hypocalcemic tetany and muscle cramps due to VDD during the COVID-19 pandemic. Case Reports. Three adolescent males (age range 14 to 16 years) presented with symptomatic hypocalcemia: paresthesia, carpopedal spasms, and muscle cramps. All reported limited dairy intake and sun exposure. Laboratory studies showed mean ionized calcium (iCa) 2.73 mg/dl (range 2.69-2.8), mean phosphorus 4.17 mg/dl (range, 3-5.4), mean parathyroid hormone (PTH) 431.67 pg/mL (range, 320-527), and mean 25-hydroxyvitamin D (25(OH)D) 7.37 ng/mL (range 5.3-10.8). All the patients presented during the COVID-19 pandemic, and one had COVID-19 infection. All were treated with oral calcium and high dose ergocalciferol. Patients 2 and 3 were also treated with intravenous calcium gluconate infusion and oral calcitriol. Conclusion: Severe VDD with symptomatic hypocalcemia can occur among adolescents without underlying medical diagnoses due to dietary and behavioral habits that limit nutritional intake and sun exposure. Risk factors of the patients may have been potentiated by pandemic-related behaviors such as more time indoors at home related to social distancing, as well as diets with limited nutrient intake. Adolescents presenting with nonspecific musculoskeletal symptoms should be screened for VDD and hypocalcemia. Appropriate treatment and preventive measures can stop immediate and long-term complications.

10.
Endocr Pract ; 29(12): 980-985, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37683825

RESUMEN

OBJECTIVE: Due to a perceived rise in hyperinsulinemic hypoglycemia (HH) cases over time, notably during the COVID-19 pandemic, institutional experiences between 2013 and 2021 were reviewed to evaluate trends, characteristics, and outcomes in children with HH. METHODS: Charts of all children diagnosed with HH during the study period and evaluated by Pediatric Endocrinology were reviewed. HH was defined per Pediatric Endocrine Society guidelines. Regression analysis compared rates of change in HH cases and maternal risk factors over time. RESULTS: The incidence of HH began to rise in April 2016 and became significant in March 2017 (P < .001), with a more rapid rate of rise during the first year of the COVID-19 pandemic (P < .001). Seventy-four children with HH were identified over 9 years; 43% (n = 32) were diagnosed in 2020-2021. Maternal hypertensive disorders demonstrated longitudinal association with hyperinsulinism cases (P < .001). CONCLUSION: While HH diagnoses were on the rise for much of the 9-year study period, nearly half of all infants were diagnosed during the COVID-19 pandemic in 2020 to 21. The trends in HH diagnoses correlated with maternal hypertensive disorders. More studies exploring the roles of maternal health, hypertension, and stress and development of HH in offspring are needed.


Asunto(s)
COVID-19 , Hiperinsulinismo , Hipertensión Inducida en el Embarazo , Hipoglucemia , Lactante , Femenino , Embarazo , Humanos , Niño , Hipoglucemia/epidemiología , Incidencia , Salud Materna , Pandemias , Hiperinsulinismo/complicaciones , Hiperinsulinismo/epidemiología , COVID-19/epidemiología , COVID-19/complicaciones
11.
Indian J Public Health ; 67(2): 284-291, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37459026

RESUMEN

The coronavirus disease 2019 (COVID-19) pandemic has changed the epidemiology of respiratory syncytial virus (RSV) infection which accounts for most bronchiolitis and viral pneumonias in infants. This systematic review and meta-analysis aimed to quantitatively assess the effect of the COVID-19 pandemic on RSV-associated bronchiolitis among hospitalized infants. The study protocol was registered in the PROSPERO database (CRD42022314000) and was designed based on Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines updated in May 2020. The meta-analysis component was modified appropriately to synthesize the pooled proportion of infants having RSV-associated bronchiolitis before the COVID-19 pandemic in 2019 and during the pandemic with 95% confidence interval (CI). We identified and screened 189 articles and systematically reviewed 50 full texts. Eight qualified studies from Europe and China, including 109,186 symptomatic cases of bronchiolitis before the pandemic in 2019 and 61,982 cases in 2020-2021 were pooled by random-effects meta-analysis. The quantitative analysis included laboratory-confirmed RSV infection in 7691 infants with bronchiolitis reported before the pandemic in 2019. Meanwhile, during the pandemic, 4964 bronchiolitis cases were associated with RSV infection. The pooled proportion of RSV-associated bronchiolitis cases before the pandemic in 2019 was 16.74% (95% CI 11.73, 22.43%, 95% prediction interval 0.032, 34.16). The pooled proportion of confirmed RSV cases during the pandemic in 2020/2021 was 19.20% (95% CI 12.01, 27.59%, 95% prediction interval 0.046, 42.35). There was an increase in RSV activity after the relaxation of stringent public health measures during the COVID-19 pandemic.


Asunto(s)
Bronquiolitis , COVID-19 , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Infecciones del Sistema Respiratorio , Lactante , Humanos , Pandemias , COVID-19/epidemiología , India , Bronquiolitis/epidemiología , Bronquiolitis/complicaciones , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/complicaciones , Infecciones del Sistema Respiratorio/epidemiología
12.
AACE Clin Case Rep ; 9(3): 74-76, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37251969

RESUMEN

Background/Objective: We present a boy with McCune-Albright syndrome (MAS)-associated precocious puberty (PP) who achieved normal adult height without treatment. Case Report: The patient presented at 10 years of age with PP and fibrous dysplasia of the right humerus. Examination showed a height 148.7 cm, Tanner 2 pubic hair and 12-15 cc testes. The Bone age (BA) was 13 years with a predicted adult height of 175 cm vs. mid parental target height of 173 cm. Laboratory parameters were as follows: luteinizing hormone (LH) 0.745 mIU/mL (0.2-4.9 mIU/mL), follicle stimulating hormone (FSH) 0.933 mIU/mL (1.8-3.2 mIU/mL), testosterone 42 ng/dL (18-150 ng/dL), inhibin B 436.6 pg/mL (41-238 pg/mL) and AMH 36.1 ng/mL (45.26-191.34 ng/mL). The DNA testing result of tissue from the right humerus was positive for GNAS p. R201C mutation confirming a diagnosis of MAS. Pubertal progression with growth spurt occurred over the next 3 years: growth velocity (GV) 12 cm/y, testosterone 116 ng/dL, LH 0.715 mIU/mL and FSH 1.3 mIU/mL at 10.6 years; GV 10.3 cm/y, BA 13 to 13.6 years, testosterone 450 ng/dL, LH 1.7 mIU/mL and FSH 1.4 mIU/mL at 11.7 years; and GV 3.8 cm/y, BA 17 years, Testosterone 668 ng/dL and LH 4.2 µIU/mL at 13.3 years. Height was 171.2 cm. Discussion: PP is reported in approximately 15% of boys with MAS. PP leads to BA advancement and reduction in final adult height. Our patient achieved normal adult height without treatment in the absence of excess growth hormone. Conclusion: Boys with MAS and PP with slow BA advancement may achieve normal adult height without treatment even in the absence of excess growth hormone.

13.
Diabetes Care ; 46(5): 953-958, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-36637859

RESUMEN

OBJECTIVE: To describe the evolving impact of the coronavirus disease 2019 pandemic on the incidence and presentation of new-onset pediatric type 2 diabetes. RESEARCH DESIGN AND METHODS: Retrospective medical record review of youth with new-onset type 2 diabetes comparing the prepandemic period (1 January 2017-29 February 2020) with the first (1 March 2020-31 December 2020) and second pandemic year (1 January 2021-31 December 2021). RESULTS: The annualized incidence of type 2 diabetes increased nearly threefold during the pandemic versus prior, with a 61% increase in the 2nd versus 1st year. BMI increased during the pandemic versus prior (129% of 95th percentile vs. 141%, P = 0.02). In the 1st year, patients were younger (12.9 years vs. 14.8, P < 0.001), with higher incidence of diabetic ketoacidosis and/or hyperglycemic hyperosmolar syndrome (20% vs. 3.5%, P = 0.02) versus prior. CONCLUSIONS: Providers should be aware of the escalating incidence of youth-onset type 2 diabetes to avoid delays in diagnosis and inform educational programs to combat the continued impact of the pandemic on health outcomes.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 2 , Cetoacidosis Diabética , Humanos , Niño , Adolescente , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , COVID-19/epidemiología , COVID-19/complicaciones , Pandemias , Estudios Retrospectivos , Incidencia , Cetoacidosis Diabética/epidemiología , Cetoacidosis Diabética/etiología , Cetoacidosis Diabética/diagnóstico
14.
Case Rep Endocrinol ; 2022: 7235102, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36387937

RESUMEN

Acquired hypothyroidism due to iodine deficiency is extremely rare in the United States due to the introduction of table salt iodization in the 1920s (Leung et al., 2012). We present the case of an adolescent male with a history of mild autism spectrum disorder and an extremely restrictive diet who was found to have iodine deficiency as the etiology for his rapidly enlarging goiter and antibody-negative hypothyroidism. Thyroid-stimulating hormone (TSH) was 416 µIU/mL (0.350-5.500 µIU/mL), free thyroxine (T4) was <0.1 ng/dL (0.80-1.80 ng/dL), and triiodothyronine (T3) was 41 ng/dL (82-213 mg/dL) at diagnosis. The patient's 24-hour urinary iodine was undetectable. He was started on iodine supplementation with rapid visible improvement of goiter within two weeks and normalization of thyroid function tests within four weeks. Thorough dietary history and nutritional screening are important in cases of acquired hypothyroidism and/or goiter. Alternatively, diets that are low in iodized salt, dairy, bread, and seafood should raise concern for iodine deficiency, and patients with suspected or proven iodine deficiency should be screened for hypothyroidism.

15.
J Pediatr Endocrinol Metab ; 35(11): 1433-1436, 2022 Nov 25.
Artículo en Inglés | MEDLINE | ID: mdl-36100365

RESUMEN

OBJECTIVES: Iodine deficiency goiter can develop in children on a restrictive diet and most have normal thyroid function. We report a 6-year-old girl with iodine deficiency goiter with thyroid function studies mimicking thyroid hormone resistance alpha. Thyroid hormones mediate its effects through thyroid hormone receptors alpha and beta. Biochemical picture of low/low-normal T4 and high/high-normal T3 levels, variably reduced reverse T3 and normal TSH is characteristic of thyroid hormone resistance alpha. CASE PRESENTATION: A 6-year-old girl, born out of non-consanguineous marriage presented with goiter of 1.5 years duration. She was without symptoms of thyroid dysfunction. The patient was evaluated at one year of age for macrocephaly with cranial ultrasound which was normal. She had normal growth and development. Patient was vegan and was not on any medications or supplements. Laboratory work up showed TSH 5.03 uIU/mL (0.34-5.5), FT4 0.3 ng/dL (0.58-1.2), FT3 5.3 pg/mL (2.5-3.9), total T3 258 ng/dL (94-241), reverse T3 <5.0 ng/dL (8.3-22.9) and negative thyroglobulin antibody and thyroid peroxidase antibody. Thyroglobulin level was 1,098.8 ng/mL (<13 ug/L), and urine iodine 15.8 ug/L (<100 ug/L) confirming a diagnosis of iodine deficiency goiter. Patient was started on iodine supplements, 150 ug daily and repeat work up 3 months later were TSH: 2.717 uIU/mL, T3, total 182 ng/dL, T4, total 9.3 ug/dL, FT 4 2.1 ng/dL. CONCLUSIONS: Iodine deficiency goiter may present with low FT 4, elevated T3 and normal TSH mimicking thyroid hormone resistance alpha and should be considered in children on restrictive diet.


Asunto(s)
Bocio Endémico , Bocio , Hipotiroidismo , Yodo , Desnutrición , Síndrome de Resistencia a Hormonas Tiroideas , Niño , Femenino , Humanos , Pruebas de Función de la Tiroides , Tiroglobulina , Tirotropina , Tiroxina , Triyodotironina
16.
J Dev Behav Pediatr ; 43(8): 461-464, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35943373

RESUMEN

BACKGROUND: Decrease in sunlight exposure during periods of social distancing during the COVID-19 pandemic increased the risk of severe manifestations of vitamin D deficiency (VDD) in a particular "high-risk" population. Our objective was to highlight the importance of vitamin D screening in youth with autism spectrum disorder (ASD) and restrictive eating. CASE PRESENTATION: We describe 3 adolescent male patients with ASD who developed severe manifestations of VDD and hypocalcemia in late 2020 during the COVID-19 pandemic. All spent less time outdoors than in prior years because of isolation at home during the pandemic. Presenting symptoms included seizures and atraumatic fractures. All 3 were found to have hypocalcemia and severe VDD. Limited sun exposure because of isolation indoors during the COVID-19 pandemic was a likely contributing factor to the severity of VDD. All 3 were treated with intravenous calcium acutely, followed by oral calcium and vitamin D. Laboratory tests performed post-treatment showed biochemical resolution of hypocalcemia and VDD. CONCLUSION: These cases highlight the importance of screening "at-risk" youth for VDD. Clinicians should be cognizant that children and adolescents with ASD and restricted eating can have severe manifestations of hypocalcemia and VDD. Decreased sun exposure because of isolating indoors during the COVID-19 pandemic increased their risk for this.


Asunto(s)
Trastorno del Espectro Autista , COVID-19 , Hipocalcemia , Deficiencia de Vitamina D , Adolescente , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , COVID-19/epidemiología , Calcio , Niño , Humanos , Hipocalcemia/complicaciones , Hipocalcemia/etiología , Masculino , Pandemias , Vitamina D , Deficiencia de Vitamina D/diagnóstico , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/etiología
17.
J Pediatr ; 251: 51-59.e2, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-35985535

RESUMEN

OBJECTIVES: To evaluate the frequency and severity of new cases of youth-onset type 2 diabetes in the US during the first year of the pandemic compared with the mean of the previous 2 years. STUDY DESIGN: Multicenter (n = 24 centers), hospital-based, retrospective chart review. Youth aged ≤21 years with newly diagnosed type 2 diabetes between March 2018 and February 2021, body mass index ≥85th percentile, and negative pancreatic autoantibodies were included. Demographic and clinical data, including case numbers and frequency of metabolic decompensation, were compared between groups. RESULTS: A total of 3113 youth (mean [SD] 14.4 [2.4] years, 50.5% female, 40.4% Hispanic, 32.7% Black, 14.5% non-Hispanic White) were assessed. New cases of type 2 diabetes increased by 77.2% in the year during the pandemic (n = 1463) compared with the mean of the previous 2 years, 2019 (n = 886) and 2018 (n = 765). The likelihood of presenting with metabolic decompensation and severe diabetic ketoacidosis also increased significantly during the pandemic. CONCLUSIONS: The burden of newly diagnosed youth-onset type 2 diabetes increased significantly during the coronavirus disease 2019 pandemic, resulting in enormous strain on pediatric diabetes health care providers, patients, and families. Whether the increase was caused by coronavirus disease 2019 infection, or just associated with environmental changes and stressors during the pandemic is unclear. Further studies are needed to determine whether this rise is limited to the US and whether it will persist over time.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Cetoacidosis Diabética , Niño , Adolescente , Humanos , Femenino , Masculino , Pandemias , COVID-19/epidemiología , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Estudios Retrospectivos , Cetoacidosis Diabética/complicaciones
18.
R I Med J (2013) ; 105(5): 46-50, 2022 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-35617042

RESUMEN

OBJECTIVE: To compare the frequency, severity of presentation and initial presentations of new onset diabetes mellitus (DM) in youth in Rhode Island during the early phase of the COVID-19 pandemic compared to the same time frame in 2018 and 2019. METHODS: A retrospective cohort study of youth treated for new onset DM at Hasbro Children's Hospital between March 1 and May 15, 2020, compared to those diagnosed in the same period in 2018 and 2019. RESULTS: Fewer youth were diagnosed with new onset DM in Spring 2020 and the percentage of youth with DKA at time of DM diagnosis was higher in Spring 2020 compared to prior years (p=0.048). Age, gender, and DKA complications did not differ by year. CONCLUSION: Nearly 50% fewer youth were diagnosed with DM at the start of the COVID-19 pandemic compared to years prior, and those diagnosed with new onset DM in Spring 2020 were more likely to present with DKA. Delays in both initial health care evaluation and the recognition of DM symptoms may have contributed to the decline in overall DM diagnoses and the more severe presentations. Identification of DM symptoms is essential, especially during future surges of COVID-19 or other events that impact the healthcare system, to reduce the risk of DM complications including DKA.


Asunto(s)
COVID-19 , Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Adolescente , COVID-19/epidemiología , Niño , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Cetoacidosis Diabética/diagnóstico , Cetoacidosis Diabética/epidemiología , Humanos , Pandemias , Estudios Retrospectivos
19.
Br J Clin Pharmacol ; 88(9): 4217-4219, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35285056

RESUMEN

Pseudotumour cerebri is a manifestation of intracranial hypertension in an otherwise normal individual. We hereby report phenytoin-induced pseudotumour cerebri in a 9-year-old boy who received phenytoin as a prophylactic anticonvulsant following surgical removal of unifocal Langerhans cell histiocytosis involving the right frontal bone. The child was evaluated for headache and diplopia after starting phenytoin and on evaluation was found to have bilateral sixth nerve palsy. The only abnormality detected was an elevated cerebrospinal fluid pressure. Withdrawal of phenytoin resulted in complete resolution of symptoms. Despite meticulous literature search, we found only 1 other report of phenytoin induced pseudotumour cerebri. We report this case to highlight the need to consider this entity whenever a patient presents with new onset or persistent headache and visual symptoms soon after starting a medication since a high degree of suspicion is needed to arrive at the diagnosis and to take appropriate steps before it progresses to harmful complications such as vision loss.


Asunto(s)
Hipertensión Intracraneal , Seudotumor Cerebral , Niño , Cefalea/inducido químicamente , Humanos , Masculino , Fenitoína/efectos adversos , Seudotumor Cerebral/inducido químicamente , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/diagnóstico , Trastornos de la Visión/complicaciones
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA